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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,  BKCa,  Slo

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 gait Kcnma1em1(IMPC)H HOM Early adult 4.05×10-26
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
abnormal locomotor behavior Kcnma1em1(IMPC)H HOM Early adult 1.68×10-07
tremors Kcnma1em1(IMPC)H HOM Early adult 1.37×10-06
increased circulating alkaline phosphatase level Kcnma1em1(IMPC)H HOM Early adult 3.14×10-08

Download data as:  TSV  XLS

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Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Kcnma1 mutations

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

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

The table below shows human diseases associated to Kcnma1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cerebellar Atrophy, Developmental Delay, And Seizures
EEG abnormality OMIM:617643
Liang-Wang Syndrome
Dystonia, Ataxia OMIM:618729
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Chorea, Paroxysmal dyskinesia, EEG with spike-wave complexes (>3.5 Hz) ORPHA:79137
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Multifocal epileptiform discharges, Paroxysmal dyskinesia OMIM:618596
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
EEG with spike-wave complexes (>3.5 Hz), Paroxysmal dyskinesia OMIM:609446
Zimmermann-Laband Syndrome
Sensorineural hearing impairment, Thickened ears, Large fleshy ears ORPHA:3473

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Danubian Endemic Familial Nephropathy
Nephropathy OMIM:124100
Spastic Paraplegia 72A, Autosomal Dominant
Spastic paraplegia, Spasticity, Tip-toe gait, Urinary bladder sphincter dysfunction, Impaired vib... OMIM:615625
Spastic Paraplegia 83, Autosomal Recessive
Spastic paraplegia, Paresthesia, Gait ataxia, Myalgia, Babinski sign, Unsteady gait, Dysphagia, U... OMIM:619027
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Elevated circulating creatine kinase concentration, Babi... OMIM:160120
Spastic Paraplegia 19, Autosomal Dominant
Spastic paraplegia, Urinary incontinence, Urinary bladder sphincter dysfunction, Impaired vibrati... OMIM:607152
Spastic Paraplegia 12, Autosomal Dominant
Spastic paraplegia, Urinary incontinence, Urinary bladder sphincter dysfunction, Impaired vibrati... OMIM:604805
Spastic Paraplegia 37, Autosomal Dominant
Spastic paraplegia, Urinary incontinence, Impaired vibration sensation in the lower limbs, Ankle ... OMIM:611945
Autosomal Dominant Spastic Paraplegia Type 13
Spastic paraplegia, Urinary incontinence, Hearing impairment, Urinary bladder sphincter dysfuncti... ORPHA:100994
Deafness, Autosomal Recessive 25
Abnormal vestibular function, Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Deafness, Autosomal Recessive 2
Vertigo, Abnormal vestibular function, Sensorineural hearing impairment OMIM:600060
Deafness, Autosomal Dominant 11
Vertigo, Abnormal vestibular function, Bilateral sensorineural hearing impairment OMIM:601317
Spastic Paraplegia 13, Autosomal Dominant
Spastic paraplegia, Urinary incontinence, Urinary bladder sphincter dysfunction, Impaired vibrati... OMIM:605280
Autosomal Recessive Spastic Paraplegia Type 27
Spastic paraplegia, Sensorineural hearing impairment, Babinski sign, Spastic/hyperactive bladder,... ORPHA:101007
Deafness-Oligodontia Syndrome
Vertigo, Abnormality of the inner ear, Sensorineural hearing impairment ORPHA:3230
Spastic Paraplegia 8, Autosomal Dominant
Spastic paraplegia, Urinary incontinence, Urinary bladder sphincter dysfunction, Impaired vibrati... OMIM:603563
Deafness, Autosomal Dominant 85
Cochlear nerve hypoplasia, Sensorineural hearing impairment OMIM:620227
Deafness, Autosomal Recessive 31
Absent vestibular function, Sensorineural hearing impairment OMIM:607084
Deafness, Autosomal Recessive 89
Vestibular hypofunction, Sensorineural hearing impairment OMIM:613916
Deafness, Autosomal Recessive 84B
Vestibular hypofunction, Sensorineural hearing impairment OMIM:614944
Deafness, Autosomal Recessive 18B
Vestibular hypofunction, Sensorineural hearing impairment OMIM:614945
Deafness, Autosomal Recessive 67
Bilateral sensorineural hearing impairment, Abnormal vestibular function, Sensorineural hearing i... OMIM:610265
Deafness, Autosomal Recessive 94
Bilateral sensorineural hearing impairment, Abnormal vestibular function OMIM:618434
Deafness, Autosomal Dominant 40
Abnormal vestibular function, Sensorineural hearing impairment OMIM:616357
Deafness, Autosomal Dominant 74
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618140
Deafness, Autosomal Recessive 117
Abnormal vestibular function, Sensorineural hearing impairment OMIM:619174
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 66
Abnormal vestibular function, Sensorineural hearing impairment OMIM:616969
Deafness, Autosomal Dominant 71
Abnormal vestibular function, Sensorineural hearing impairment OMIM:617605
Deafness, Autosomal Recessive 113
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618410
Deafness, Autosomal Dominant 81
Abnormal vestibular function, Sensorineural hearing impairment OMIM:619500
Deafness, Autosomal Recessive 99
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618481
Deafness, Autosomal Recessive 7
Abnormal vestibular function, Sensorineural hearing impairment OMIM:600974
Deafness, Autosomal Dominant 53
Abnormal vestibular function, Sensorineural hearing impairment OMIM:609965
Deafness, Autosomal Dominant 25
Abnormal vestibular function, Sensorineural hearing impairment OMIM:605583
Spastic Paraplegia 10, Autosomal Dominant
Spastic paraplegia, Urinary incontinence, Urinary bladder sphincter dysfunction, Impaired vibrati... OMIM:604187
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Progressive cerebellar ataxia, Spasticity, Impaired vibration sensation in the lower limbs, Head ... ORPHA:352641
Auditory Neuropathy, Autosomal Dominant 2
Abnormal speech discrimination, Sensorineural hearing impairment OMIM:620384
Spastic Paraplegia, Ataxia, And Impaired Intellectual Development
Spastic paraplegia, Urinary incontinence, Urinary bladder sphincter dysfunction, Impaired vibrati... OMIM:607565
Deafness, Autosomal Recessive 30
Progressive sensorineural hearing impairment, Progressive hearing impairment OMIM:607101
Spastic Paraplegia 18A, Autosomal Dominant
Paresthesia, Ankle clonus, Loss of ambulation, Babinski sign, Gait disturbance, Lower limb spasti... OMIM:620512
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Limb ataxia, Gait ataxia, Urinary bladder sphincter dysfunction ORPHA:284282
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Urinary incontinence, Urinary bladder sphincter dysfunction, 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
High-frequency hearing impairment, Sensorineural hearing impairment OMIM:300066
Deafness, Autosomal Recessive 13
Hearing impairment, Sensorineural hearing impairment OMIM:603098
Deafness, Autosomal Recessive 29
Hearing impairment, Sensorineural hearing impairment OMIM:614035
Deafness, Autosomal Recessive 20
Hearing impairment, Sensorineural hearing impairment OMIM:604060
Deafness, Autosomal Recessive 15
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Sensorineural hearing ... OMIM:601869
Spastic Paraplegia 36, Autosomal Dominant
Spastic paraplegia, Urinary incontinence, Impaired vibration sensation in the lower limbs, Babins... OMIM:613096
Spastic Paraplegia 4, Autosomal Dominant
Spastic paraplegia, Urinary incontinence, Urinary bladder sphincter dysfunction, Impaired vibrati... OMIM:182601
Deafness, Autosomal Recessive 100
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618422
Deafness, Autosomal Recessive 63
Abnormal vestibular function, Congenital sensorineural hearing impairment OMIM:611451
Deafness, Autosomal Dominant 20
Bilateral sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:604717
Deafness, Autosomal Dominant 6
Low-frequency sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:600965
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
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 79
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:613307
Usher Syndrome, Type Ic
Congenital sensorineural hearing impairment, Vestibular hypofunction OMIM:276904
Autosomal Recessive Spastic Paraplegia Type 76
Functional abnormality of the bladder, Limb ataxia, Gait ataxia, Ankle clonus, Babinski sign, Low... ORPHA:488594
Autosomal Dominant Spastic Paraplegia Type 73
Urinary incontinence, Progressive spastic paraplegia, Progressive spastic paraparesis, Difficulty... ORPHA:444099
Autosomal Dominant Spastic Paraplegia Type 4
Spasticity, Urinary bladder sphincter dysfunction, Ankle clonus, Babinski sign, Lower limb spasti... ORPHA:100985
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Hearing impairment, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculomo... OMIM:617145
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Spastic Paraplegia 76, Autosomal Recessive
Spastic paraplegia, Difficulty walking, Gait ataxia, Dysmetria, Distal sensory impairment, Babins... OMIM:616907
Well-Differentiated Liposarcoma
Abnormal renal physiology ORPHA:99971
Deafness, Autosomal Recessive 35
Abnormal ear morphology, Sensorineural hearing impairment OMIM:608565
Deafness, Autosomal Dominant 76
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618787
Autosomal Dominant Spastic Paraplegia Type 8
Urinary incontinence, Progressive spastic paraplegia, Difficulty walking, Impaired vibration sens... ORPHA:100989
Autosomal Dominant Spastic Paraplegia Type 9A
Urinary incontinence, Falls, Impaired vibration sensation in the lower limbs, Lower limb pain, Tr... ORPHA:447753
Spastic Paraplegia 48, Autosomal Recessive
Spastic paraplegia, Broad-based gait, Spastic paraparesis, Urinary incontinence, Tip-toe gait, Dy... OMIM:613647
Spastic Paraplegia 3, Autosomal Dominant
Spastic paraplegia, Urinary incontinence, Urinary bladder sphincter dysfunction, Impaired vibrati... OMIM:182600
Deafness, Autosomal Dominant 4B
Abnormal vestibular function, Sensorineural hearing impairment OMIM:614614
Fragile X-Associated Tremor/Ataxia Syndrome
Hypotension, Memory impairment, Urinary bladder sphincter dysfunction, Gait ataxia, Intention tre... ORPHA:93256
Deafness, Autosomal Recessive 57
Abnormal vestibular function, Hearing impairment, Sensorineural hearing impairment OMIM:618003
Deafness, Autosomal Recessive 101
Bilateral sensorineural hearing impairment, Abnormal vestibular function OMIM:615837
Autosomal Dominant Spastic Paraplegia Type 36
Urinary incontinence, Progressive spastic paraplegia, Impaired temperature sensation, Babinski si... ORPHA:320365
Autosomal Recessive Spastic Paraplegia Type 48
Urinary incontinence, Broad-based gait, Progressive spastic paraplegia, Urinary bladder sphincter... ORPHA:306511
Spastic Paraplegia 7, Autosomal Recessive
Spastic paraplegia, Urinary incontinence, Hearing impairment, Upper limb hypertonia, Lower limb h... OMIM:607259
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Spastic paraplegia, Postural tremor, Babinski sign, Gait disturbanc... ORPHA:100988
Autosomal Spastic Paraplegia Type 72
Memory impairment, Urinary bladder sphincter dysfunction, Postural tremor, Rigidity, Spastic gait... ORPHA:401849
Spastic Paraplegia 31, Autosomal Dominant
Spastic paraplegia, Distal sensory impairment, Ankle clonus, Babinski sign, Lower limb spasticity... OMIM:610250
Spinocerebellar Ataxia 48
Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Cachexia, Ataxia, Urinary in... OMIM:618093
Pudendal Neuralgia
Scrotal pain, Paresthesia, Paroxysmal rectal pain, Neuralgia, Pollakisuria, Allodynia, Dyspareuni... ORPHA:60039
Spastic Paraplegia 27, Autosomal Recessive
Spastic paraplegia, Babinski sign, Lower limb spasticity, Spastic/hyperactive bladder, Impaired v... OMIM:609041
Spastic Paraplegia 46, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Urinary incontinence, Hearing impairment, Hand ... OMIM:614409
Spinocerebellar Ataxia 42
Urinary incontinence, Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spa... OMIM:616795
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Ataxia, Urinary incontinence, Hearing impairment, Fasciculations, Incoordination, Difficulty walk... OMIM:616688
Deafness, Autosomal Dominant 3B
Adult onset sensorineural hearing impairment OMIM:612643
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
Spastic gait, Spastic paraplegia, Urinary urgency OMIM:613364
Autosomal Dominant Spastic Paraplegia Type 12
Urinary incontinence, Male sexual dysfunction, Progressive spastic paraplegia, Female sexual dysf... ORPHA:100993
Spastic Paraplegia 11, Autosomal Recessive
Spastic paraplegia, Urinary incontinence, Tip-toe gait, Urinary bladder sphincter dysfunction, Im... OMIM:604360
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 37
Sensorineural hearing impairment OMIM:618533
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 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, 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
Neuropathy, Hereditary Motor And Sensory, With Deafness, Impaired Intellectual Development, And Absent Sensory Large Myelinated Fibers
Sensorineural hearing impairment OMIM:214370
Deafness, Autosomal Recessive 114
Sensorineural hearing impairment OMIM:618456
Deafness, Autosomal Recessive 115
Sensorineural hearing impairment OMIM:618457
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 Dominant 12
Sensorineural hearing impairment OMIM:601543
Deafness, Autosomal Recessive 16
Sensorineural hearing impairment OMIM:603720
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
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 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
Autosomal Recessive Spastic Paraplegia Type 46
Broad-based gait, Hearing impairment, Reduced sperm motility, Difficulty walking, Infertility, He... ORPHA:320391
Autosomal Recessive Spastic Paraplegia Type 9B
Spasticity, Tip-toe gait, Urinary retention, Impaired continence, Postural tremor, Babinski sign,... ORPHA:447760
Spinocerebellar Ataxia 17
Broad-based gait, Chorea, Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetria, Rigidity, M... OMIM:607136
Deafness, Autosomal Recessive 119
Sensorineural hearing impairment OMIM:619615
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... OMIM:620049
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Limb dysmetria, Tremor, Rigidity, Parkinsonism, Abnormal pyramidal sign, Gait disturbance... OMIM:213600
Deafness, Autosomal Recessive 116
Sensorineural hearing impairment OMIM:619093
Fragile X Tremor/Ataxia Syndrome
Poor fine motor coordination, Resting tremor, Bowel incontinence, Hearing impairment, Postural tr... OMIM:300623
Cerebellar Ataxia And Neurosensory Deafness
Sensorineural hearing impairment OMIM:212850
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Deafness, Autosomal Recessive 37
Abnormal vestibular function, Sensorineural hearing impairment OMIM:607821
Adult Polyglucosan Body Disease
Spasticity, Urinary bladder sphincter dysfunction, Distal sensory impairment, Abnormality of extr... ORPHA:206583
Spastic Paraplegia 16, X-Linked
Spastic paraplegia, Shuffling gait, Urinary bladder sphincter dysfunction, Babinski sign, Lower l... OMIM:300266
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533
Sandhoff Disease, Juvenile Form
Acroparesthesia, Failure to thrive, Fasciculations, Incoordination, Abnormality of extrapyramidal... ORPHA:309162
Autosomal Recessive Spastic Paraplegia Type 35
Enuresis nocturna, Spastic paraplegia, Mental deterioration, Generalized dystonia, Difficulty wal... ORPHA:171629
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Myoclonus, Rigidity, Disinhibition, Babinski sign, Aggressive behavior, G... OMIM:600795
Spastic Paraplegia 85, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Upper limb spasticity, Impaired temperature sen... OMIM:619686
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, A... OMIM:614561
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Nephrotic Syndrome, Type 24
Focal segmental glomerulosclerosis, Renal cortical hyperechogenicity, Steroid-resistant nephrotic... OMIM:619263
Spastic Paraplegia 5A, Autosomal Recessive
Spastic paraplegia, Urinary incontinence, Impaired vibration sensation in the lower limbs, Postur... OMIM:270800
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ankle cl... OMIM:616053
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo... OMIM:615861
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Impaired vibratory sensation, Spasticity, Difficulty walking, Gait ataxia, Dysmetria, Impaired ta... ORPHA:98
Arthrogryposis, Distal, Type 6
Sensorineural hearing impairment OMIM:108200
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Spastic Paraplegia 44, Autosomal Recessive
Spastic paraplegia, Urinary incontinence, Dysmetria, Distal sensory impairment, Sensorineural hea... OMIM:613206
Spinocerebellar Ataxia Type 19/22
Broad-based gait, Difficulty walking, Limb ataxia, Cogwheel rigidity, Ataxia, Urinary incontinenc... ORPHA:98772
Interstitial Cystitis
Functional abnormality of the bladder, Abnormality of the urethra, Urinary bladder inflammation, ... ORPHA:37202
Lipoprotein Glomerulopathy
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Autosomal Dominant Spastic Paraplegia Type 3
Hyperesthesia, Impaired vibratory sensation, Tip-toe gait, Rigidity, Ankle clonus, Babinski sign,... ORPHA:100984
Spastic Paraplegia 29, Autosomal Dominant
Impaired vibratory sensation, Spastic paraplegia, Urinary hesitancy, Sensorineural hearing impair... OMIM:609727
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Spastic paraplegia, Difficulty walking, Urinary urgency, Dysmetria, Ankle clonus, Babinski sign, ... OMIM:612319
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy, Sensorineural hearing impairment OMIM:136600
Acquired Central Diabetes Insipidus
Polydipsia, Weight loss, Pollakisuria ORPHA:95626
3-Methylglutaconic Aciduria, Type I
Spasticity, Failure to thrive, 3-Methylglutaconic aciduria, Self-mutilation, Ataxia, Urinary inco... OMIM:250950
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait ORPHA:401840
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:616893
Spinocerebellar Ataxia 10
Incoordination, Limb ataxia, Gait ataxia, Limb fasciculations, Dysmetria, Distal sensory impairme... OMIM:603516
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... OMIM:609129
Spinocerebellar Ataxia 37
Unsteady gait, Frequent falls, Tremor, Ataxia OMIM:615945
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Gait ataxia, Loss of ambulation, Babinski sign, Urinary incontinence, Spastic tetraparesis, Dysph... OMIM:249900
Sandhoff Disease, Adult Form
Spasticity, Fasciculations, Gait ataxia, Tremor, Elevated circulating creatine kinase concentrati... ORPHA:309169
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits ORPHA:69063
Spinocerebellar Ataxia Type 31
Spasticity, Gait ataxia, Hearing impairment, Tremor ORPHA:217012
Renal Dysplasia, Cystic, Susceptibility To
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... OMIM:601331
Glutathionuria
Action tremor, Tremor, Glutathionuria, Urinary incontinence, Gray matter heterotopia, Dysdiadocho... OMIM:231950
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Spasticity, Gait ataxia, Dysmetria, Spastic ataxia, Bilateral sensorineural hearing impairment, S... ORPHA:314603
Adrenoleukodystrophy
Spastic paraplegia, Hearing impairment, Urinary bladder sphincter dysfunction, Incoordination, Hy... OMIM:300100
Syringomyelia, Noncommunicating Isolated
Neck pain, Paresthesia, Gait ataxia, Babinski sign, Lower limb spasticity, Urinary incontinence, ... OMIM:186700
Deafness, Autosomal Dominant 75
Abnormal cochlea morphology, Sensorineural hearing impairment OMIM:618778
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome OMIM:616220
Deafness, Autosomal Recessive 121
Vestibular hypofunction, Sensorineural hearing impairment OMIM:620551
Chiari Malformation Type I
Hearing impairment, Neck pain, Paresthesia, Gait ataxia, Tinnitus, Babinski sign, Lower limb spas... OMIM:118420
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Tremor, Rigidity, Gait disturbance, Ataxia, Urinary incontinence OMIM:603472
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Spasticity, Fasciculations, Urinary bladder sphincter dysfunction, ... OMIM:183090
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
3-Methylglutaconic Aciduria, Type Ix
3-Methylglutaric aciduria, Spasticity, Failure to thrive, 3-Methylglutaconic aciduria, Aggressive... OMIM:617698
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:301028
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Elevated circulating creatine kinase concentration, Tremor, Fasciculations OMIM:615048
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Polyglucosan Body Neuropathy, Adult Form
Spastic paraplegia, Tetraparesis, Paresthesia, Distal sensory impairment, Gait disturbance, Neuro... OMIM:263570
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Truncal ataxia, Nonprogressive cerebellar ataxia, Intention tremor ORPHA:94122
Spinocerebellar Ataxia Type 25
Impaired pain sensation, Gait ataxia, Distal sensory impairment, Babinski sign, Episodic abdomina... ORPHA:101111
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:85292
Spinocerebellar Ataxia 43
Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor, Ataxia OMIM:617018
Lower Urinary Tract Obstruction, Congenital
Vesicoureteral reflux, Urinary incontinence, Pollakisuria, Congenital posterior urethral valve, U... OMIM:618612
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Tremor, Babinski sign, Cognitive impairment, Ataxia OMIM:611105
Huntington Disease-Like 3
Spasticity, Chorea, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... OMIM:604802
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Spinocerebellar Ataxia Type 13
Hearing impairment, Difficulty walking, Limb ataxia, Gait ataxia, Myoclonus, Clumsiness, Dysphagi... ORPHA:98768
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Mental deterioration, Falls, Resting tremor, Ur... OMIM:617225
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Spasticity, Pachygyria, Myoclonus, Ataxia, Urinary incontinence OMIM:620094
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Cerebroretinal Microangiopathy With Calcifications And Cysts 3
Inability to walk, Urinary incontinence OMIM:620368
Intellectual Developmental Disorder, X-Linked 29
Urinary incontinence, Babinski sign, Sensorineural hearing impairment OMIM:300419
Roussy-Lévy Syndrome
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Impaired pain sensation,... ORPHA:3115
Huntington Disease-Like 3
Broad-based gait, Spasticity, Extrapyramidal muscular rigidity, Chorea, Abnormality of extrapyram... ORPHA:157946
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Urinary incontinence, Spasticity, Bro... ORPHA:206448
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Urinary bladder sphincter dysfunction, Dysmetria, Ankle clonus, Babinski sign... OMIM:610357
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria OMIM:617783
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Spastic Paraplegia 80, Autosomal Dominant
Spastic paraplegia, Mental deterioration, Limb ataxia, Dystonia, Babinski sign, Gait disturbance,... OMIM:618418
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Spastic Paraplegia 9B, Autosomal Recessive
Spastic paraplegia, Spasticity, Urinary retention, Pseudobulbar paralysis, Tremor, Babinski sign,... OMIM:616586
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Spasticity, Progressive spastic paraplegia, Difficulty walking, Obesity, Sensorineural hearing im... ORPHA:464282
Autosomal Dominant Spastic Paraplegia Type 19
Male sexual dysfunction, Progressive spastic paraplegia, Female sexual dysfunction, Difficulty wa... ORPHA:100999
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Pain, Hematuria, Abnormality of urine... ORPHA:93600
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Mildly elevated creatine kinase, Hearing impairment, Tremor OMIM:614369
3-Methylglutaconic Aciduria Type 9
Spasticity, Failure to thrive, Slender build, 3-Methylglutaconic aciduria, Aggressive behavior, C... ORPHA:505216
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Tip-toe gait, Abnormal EKG, Inability to walk, Reduced left ventricular ejection fraction, Chorea... ORPHA:268
Multiple Sclerosis, Susceptibility To
Spasticity, Incoordination, Urinary hesitancy, Paresthesia, Urinary incontinence OMIM:126200
Spastic Paraplegia 15, Autosomal Recessive
Spastic paraplegia, Urinary incontinence, Urinary bladder sphincter dysfunction, Paraplegia, Urin... OMIM:270700
Glomerulopathy With Fibronectin Deposits 2
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... OMIM:601894
Spinocerebellar Ataxia Type 8
Impaired vibratory sensation, Spasticity, Limb ataxia, Gait ataxia, Rigidity, Unsteady gait, Dysp... ORPHA:98760
Deafness, Autosomal Dominant 44
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:607453
Deafness, Autosomal Dominant 86
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:620280
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca... OMIM:618013
Mitochondrial Membrane Protein-Associated Neurodegeneration
Spasticity, Spastic paraparesis, Shuffling gait, Hand tremor, Rigidity, Babinski sign, Parkinsoni... ORPHA:289560
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Memory impairment, Difficulty walking, Impaired vibration sensation in the lo... ORPHA:251282
Hydrocephalus, Normal-Pressure, 1
Urinary incontinence, Gait disturbance, Bowel incontinence OMIM:236690
Spinocerebellar Ataxia Type 38
Difficulty walking, Gait ataxia, Tremor ORPHA:423296
Adult Neuronal Ceroid Lipofuscinosis
Mental deterioration, Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function... ORPHA:79262
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Polymicrogyria, Inability to walk, Gait ataxia, Myoclonus, Tremor, Rig... OMIM:618877
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Segawa Syndrome, Autosomal Recessive
Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Charcot-Marie-Tooth Disease, Type 4B3
Loss of ambulation, Urinary incontinence, Gait disturbance, Distal sensory impairment OMIM:615284
Foix-Alajouanine Syndrome
Functional abnormality of the bladder, Somatic sensory dysfunction, Urinary retention, Progressiv... ORPHA:79093
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... OMIM:603965
Spinocerebellar Ataxia Type 37
Falls, Limb dysmetria, Myoclonus, Cogwheel rigidity, Sensorineural hearing impairment, Tremor, Ga... ORPHA:363710
Non-Syndromic Genetic Deafness
Prelingual sensorineural hearing impairment, Conductive hearing impairment, Progressive sensorine... ORPHA:87884
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Spasticity, Dysmetria, Rigidity, Abnormality of extrapyramidal motor function, Babinski sign, Low... OMIM:600142
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
X-Linked Spastic Paraplegia Type 16
Functional abnormality of the bladder, Tetraplegia ORPHA:100997
Dystonia 23
Head tremor, Limb dystonia, Myoclonus, Axial dystonia, Gait disturbance, Torticollis, Writer's cramp OMIM:614860
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Memory impairment, Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Cognitive impairment, Ataxi... ORPHA:401901
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Myoclonus, Progressive gait ataxia, Bilateral sensorineural hearing impairment, Intention tremor,... ORPHA:2589
N-Acetylaspartate Deficiency
Broad-based gait, Self-mutilation, Decreased body weight, Truncal ataxia, Unsteady gait, Motor st... OMIM:614063
Glomerulopathy With Fibronectin Deposits 1
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... OMIM:137950
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:618176
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Spinocerebellar Ataxia Type 42
Upper limb postural tremor, Urinary incontinence, Resting tremor, Head tremor, Gait ataxia, Babin... ORPHA:458803
C3 Glomerulopathy 3
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... OMIM:614809
Ataxia, Deafness, And Cardiomyopathy
Sensorineural hearing impairment OMIM:208750
Autosomal Dominant Spastic Paraplegia Type 37
Progressive spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower lim... ORPHA:171612
Epilepsy, Progressive Myoclonic 7
Mental deterioration, EEG with generalized epileptiform discharges, Myoclonus, Tremor, Ataxia OMIM:616187
Primary Progressive Freezing Gait
Shuffling gait, Difficulty walking, Postural tremor, Gait imbalance, Restless legs, Rigidity, Bab... ORPHA:75567
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Spasticity, Shuffling gait, Resting tremor, Akinesia, Gait ataxia, Intention tremor, Rigidity, Ba... ORPHA:247234
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome... OMIM:618594
Spastic Paraplegia 79B, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Myotonia, Tetraparesis, Fasciculations, Postura... OMIM:615491
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Myoclonus, Morning myoclonic jerks, EEG with polyspike wave complexes, Ataxia, Demen... ORPHA:308
Siddiqi Syndrome
Urinary incontinence, Sensorineural hearing impairment OMIM:618635
Baralle-Macken Syndrome
Inability to walk, Urinary incontinence, Spasticity, Obesity OMIM:619255
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... OMIM:619201
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Focal Segmental Glomerulosclerosis 6
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,... OMIM:614131
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Scissor gait, Park... OMIM:260300
Nephrotic Syndrome, Type 15
Hypoalbuminemia, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5... OMIM:617609
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Inappropriate behavior, Myoclonus, Disinhibition, Babinski sign, Apraxia, Gait distur... OMIM:221770
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero... OMIM:256370
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Somatic sensory dysfunction, Impaired pain sensation, Hand tremor, ... ORPHA:101085
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Abnormal pyramidal sig... ORPHA:101110
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Gait ataxia, Cogwheel rigidity, Dyst... OMIM:128230
Spastic Paraplegia 9A, Autosomal Dominant
Impaired vibratory sensation, Spastic paraplegia, Urinary incontinence, Resting tremor, Gait atax... OMIM:601162
Amyotrophic Lateral Sclerosis 2, Juvenile
Spasticity, Difficulty walking, Abnormal exteroceptive sensation, Spasticity of facial muscles, O... OMIM:205100
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Motor stereotypy, Pachygyria OMIM:606053
Nephronophthisis 7
Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis OMIM:611498
Dystonia 16
Bradykinesia, Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis,... ORPHA:210571
Spinocerebellar Ataxia Type 12
Bradykinesia, Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Gai... ORPHA:98762
Marchiafava-Bignami Disease
Tetraparesis, Gait ataxia, Hemiparesis, Rigidity, Aggressive behavior, Apraxia, Abnormal pyramida... ORPHA:221074
Hyperprolinemia, Type I
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Aggressive behavior, Hyperactivity, Ataxia, Motor... OMIM:239500
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Urocanase Deficiency
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Urocanic aciduria, Aggressive behavior, ... OMIM:276880
Unilateral Focal Polymicrogyria
Spastic hemiparesis, Hemiparesis, Aggressive behavior, Attention deficit hyperactivity disorder, ... ORPHA:268947
Autosomal Recessive Spastic Paraplegia Type 15
Impaired vibratory sensation, Spasticity, Spastic paraplegia, Functional abnormality of the bladd... ORPHA:100996
Deafness, Autosomal Dominant 50
Sensorineural hearing impairment, Tinnitus, Progressive sensorineural hearing impairment, Progres... OMIM:613074
Juvenile Amyotrophic Lateral Sclerosis
Urinary incontinence, Tip-toe gait, Difficulty walking, Inability to walk, Chorea, Spastic dipleg... ORPHA:300605
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Inflexible adherence to routines, Truncal ataxia, Unsteady gait, Motor ster... OMIM:608636
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia OMIM:612437
Migraine, Familial Hemiplegic, 1
Confusion, Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Xq28 (MECP2) duplication
Functional abnormality of the bladder, Failure to thrive, Inability to walk, Gait ataxia, Motor s... DECIPHER:45
Deafness, Autosomal Dominant 77
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment OMIM:618915
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... OMIM:220100
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tetraparesis, Myoclonus, Hypertriglyceridemia, Tremor, Abnormal pyramidal sign, Ataxi... OMIM:615924
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Scissor gait, Parkinsonism, ... ORPHA:521406
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Myoclonus, Tremor, Elevated circulating creatine kinase concentration, Loss o... OMIM:614018
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Cognitive impairment, Truncal ataxi... OMIM:615768
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Babinski sign, Clonus, Urinary incontinence, Dysphagia, Bowel incontinence, Progressive cerebella... OMIM:618868
Spastic Paralysis, Infantile-Onset Ascending
Spastic paraplegia, Babinski sign, Tetraplegia, Urinary incontinence, Dysphagia, Spastic tetraplegia OMIM:607225
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Difficulty walking, Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Unsteady gait, D... ORPHA:423275
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Failure to thrive in infancy, Speech a... OMIM:613670
Nephronophthisis 20
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... OMIM:617271
Nephrotic Syndrome, Type 12
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616892
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency OMIM:607832
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Dystonia 28, Childhood-Onset
Spasticity, Tip-toe gait, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dyston... OMIM:617284
Stxbp1-Related Encephalopathy
EEG with abnormally slow frequencies, Spasticity, Inability to walk, Tremor, Hypsarrhythmia, Atax... ORPHA:599373
Cyanide-Induced Parkinsonism-Dystonia
Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Rigidity, Parkinsonism, Brad... ORPHA:306692
Spinocerebellar Ataxia 38
Limb ataxia, Myoclonus, Gait ataxia, Tremor, Ataxia OMIM:615957
Enuresis, Nocturnal, 1
Enuresis nocturna OMIM:600631
Enuresis, Nocturnal, 2
Enuresis nocturna OMIM:600808
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Posterior Column Ataxia With Retinitis Pigmentosa
Broad-based gait, Recurrent urinary tract infections, Impaired vibration sensation in the lower l... OMIM:609033
Spastic Paraplegia 89, Autosomal Recessive
Spastic paraplegia, Functional abnormality of the bladder, Ataxia OMIM:620379
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Focal dystonia, Chorea, Limb dystonia, Tremor, Rigidity, Clumsiness, Parkinsonism, Ab... ORPHA:216873
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... ORPHA:99657
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, T... ORPHA:276193
Spinocerebellar Ataxia, Autosomal Recessive 7
Truncal titubation, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Dysm... OMIM:609270
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Truncal ataxia, Unsteady gait, Spastic dysarthria, Frequent falls, Int... ORPHA:314978
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Spastic Paraplegia 26, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Tip-toe gait, Difficulty walking, Dysmetria, Ba... OMIM:609195
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Palmoplantar Keratoderma-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2202
Glut1 Deficiency Syndrome 2
Splenomegaly, Reticulocytosis, Tremor, Reduced haptoglobin level, Ataxia, Dystonia, Hemolytic ane... OMIM:612126
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Peroxisome Biogenesis Disorder 14B
Loss of ambulation, Urinary incontinence, Hypertonia, Progressive hearing impairment OMIM:614920
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Falls, Bruxism, Chorea, Inappropriate laughter, Motor stereotypy, Aggressive behavior, Ataxia, Po... OMIM:619150
Spastic Ataxia 3, Autosomal Recessive
Spasticity, Hearing impairment, Gait ataxia, Dysmetria, Loss of ambulation, Spastic ataxia, Neuro... OMIM:611390
Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax... ORPHA:454887
Autosomal Recessive Ataxia, Beauce Type
Impaired vibratory sensation, Spasticity, Urinary incontinence, Fasciculations, Dysmetria, Ankle ... ORPHA:88644
Lower Motor Neuron Syndrome With Late-Adult Onset
Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Elevated circulating creatine k... ORPHA:276435
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Difficulty walking, Myocl... OMIM:613608
Autosomal Recessive Frontotemporal Pachygyria
Urinary incontinence, Pachygyria ORPHA:329329
Nephrotic Syndrome, Type 7
Thickened glomerular basement membrane, Hypoalbuminemia, Acute kidney injury, Stage 5 chronic kid... OMIM:615008
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Progressive extrapyramidal muscular rigidity, Hemiplegia, Chorea, Gait ataxia, Ba... ORPHA:225147
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Fasciculations, Gait ataxia, Myoclonus, Tremor, Babinski sign, Abnormal pyramidal sig... OMIM:607317
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Mental deterioration, Confusion, Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal mo... OMIM:615362
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Dementia, Interictal EEG abnormality, Chorea, Myoclonus, Dysmetria, Tremor, Dystonia,... ORPHA:79263
Amyotrophic Lateral Sclerosis 5, Juvenile
Spasticity, Fasciculations, Babinski sign, Abnormal pyramidal sign, Urinary incontinence OMIM:602099
Hyperphenylalaninemia, Bh4-Deficient, D
Transient hyperphenylalaninemia, Hypertonia, Tremor, Hyperphenylalaninemia OMIM:264070
Pandas
Abnormal fear-induced behavior, Chorea, Encopresis, Obsessive-compulsive trait, Oppositional defi... ORPHA:66624
Phenylketonuria
Short attention span, Tremor, Phenylalaninuria, Lower limb spasticity, EEG abnormality, Ataxia, D... ORPHA:716
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Somatic sensory dysfunction, Urinary bladder sphincter dysfu... ORPHA:320401
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Gait disturbance, Parkinso... ORPHA:314632
Amyloidosis, Hereditary Systemic 1
Spasticity, Spastic paraparesis, Hearing impairment, Paraplegia, Limb ataxia, Positive Romberg si... OMIM:105210
Spinocerebellar Ataxia, Autosomal Recessive 22
Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal ataxia, Unsteady gait,... OMIM:616948
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Cryofibrinogenemia, Familial Primary
Hematuria, Transient nephrotic syndrome OMIM:123540
Intellectual Developmental Disorder, Autosomal Recessive 70
Urinary incontinence, Severe temper tantrums, Attention deficit hyperactivity disorder OMIM:618402
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Attention deficit hyperactivity disorder, Motor stereotypy, At... OMIM:618709
Neutropenia-Monocytopenia-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2690
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Handgrip myotonia, Myotonia, Tetraparesis, Impaired vibration sensation in the lower limbs, Limb ... ORPHA:324442
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Gait d... OMIM:616710
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Stage ... OMIM:615573
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Cognitive imp... ORPHA:98763
Autosomal Recessive Spastic Paraplegia Type 77
Detrusor sphincter dyssynergia, Neuromuscular dysphagia, Progressive spastic paraplegia, Myoclonu... ORPHA:466722
Dystonia 12
Bradykinesia, Tremor, Parkinsonism, Torticollis, Unsteady gait, Dystonia OMIM:128235
Renal Failure, Progressive, With Hypertension
Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuria OMIM:161900
Urocanic Aciduria
Broad-based gait, Gait ataxia, Action tremor, Ataxia, Abnormal circulating histidine concentratio... ORPHA:210128
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady gait, Intention tremor OMIM:302500
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Macrotia, Decreased body weight, Hyperkinetic movements, Ataxia, Urinary incontinence, Truncal at... OMIM:300243
X-Linked Charcot-Marie-Tooth Disease Type 6
Hand tremor, Difficulty walking, Elevated circulating creatine kinase concentration, Sensorineura... ORPHA:352675
Spinocerebellar Ataxia Type 28
Spasticity, Memory impairment, Head tremor, Limb ataxia, Gait ataxia, Limb dystonia, Rigidity, Dy... ORPHA:101109
Hsd10 Disease
Spastic paraparesis, Elevated urinary 3-hydroxybutyric acid, Abnormal urinary acylglycine profile... ORPHA:391417
Spastic Paraparesis And Deafness
Spastic paraparesis, Hearing impairment, Tremor OMIM:312910
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ... OMIM:611302
Parkinson Disease 17
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the urinary system, Somatic sensory dysfunction, Inability to walk, Limb fascicula... ORPHA:90117
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Progressive spastic paraparesis, Incoordination, Urinary bladder sph... ORPHA:43
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Gait ataxia, Tremor, Dysmetria, Elevated circulating creatine kinase concentration, Steppage gait... OMIM:618387
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy, Choreoathetosis, Spastic di... OMIM:617270
Spastic Paraplegia 84, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Tip-toe gait, Difficulty walking, Ankle clonus,... OMIM:619621
Tremor, Hereditary Essential, 6
Kinetic tremor, Postural tremor, Head tremor, Vocal tremor OMIM:618866
Metachromatic Leukodystrophy, Late Infantile Form
Spasticity, Tip-toe gait, Gait ataxia, Progressive gait ataxia, Babinski sign, Clumsiness, Urinar... ORPHA:309256
Parkinson Disease 19A, Juvenile-Onset
Shuffling gait, Spasticity, Pill-rolling tremor, Rigidity, Loss of ambulation, Dystonia, Parkinso... OMIM:615528
Deafness, Autosomal Recessive 77
Tinnitus, Abnormal vestibular function, Bilateral sensorineural hearing impairment OMIM:613079
Chromosome 3Q29 Deletion Syndrome
Low-set ears, Failure to thrive, Gait ataxia, Motor stereotypy, Aggressive behavior, Hyperactivit... OMIM:609425
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Shuffling gait, Myotonia, Fasciculations, Tremor, Loss of ambulation, Waddling gait ORPHA:209335
Adult-Onset Distal Myopathy Due To Vcp Mutation
Fasciculations, Difficulty walking, Myalgia, Tremor, Back pain, Parkinsonism, Urinary incontinenc... ORPHA:329478
Spinocerebellar Ataxia 18
Tremor, Dysmetria, Progressive gait ataxia, Babinski sign, Dysdiadochokinesis OMIM:607458
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hypertrophic cardiomyopathy, Limb dystonia, Tremor, Ataxia, Intermittent diarrhea OMIM:620270
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Hearing impairment, Difficulty walking, Impaired vibration sensation in the lower limbs, Tremor, ... ORPHA:137898
Spinocerebellar Ataxia 12
Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dementia, Dysdiadochokinesis... OMIM:604326
Conductive Deafness-Malformed External Ear Syndrome
Low-set ears, Conductive hearing impairment, Stenosis of the external auditory canal, Overfolded ... ORPHA:3216
Proteinuria, Chronic Benign
Proteinuria, Albuminuria, Renal insufficiency OMIM:618884
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Gait ataxia, Cogwheel rigid... OMIM:600116
Deafness, X-Linked 2
Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari... OMIM:304400
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Action tremor, Rigidity, Impaired tandem gait, Parkinsonism, Gait disturbance,... OMIM:300423
Epilepsy, Progressive Myoclonic, 10
Spasticity, Myoclonus, Spastic ataxia, Ataxia, Urinary incontinence, Spastic tetraplegia, Progres... OMIM:616640
Ochoa Syndrome
Urethral obstruction, Polydipsia, Recurrent urinary tract infections, Vesicoureteral reflux, Rena... ORPHA:2704
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Attention deficit hyperactivity disorder, Bradykinesia, Lower limb spasticity, Urinary urgency OMIM:618878
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,... OMIM:600995
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ... OMIM:600791
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Hand tremor, Gait ataxia, Recurrent hand flapping, Dysphagia, Motor stereotypy OMIM:617862
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Mental deterioration, Spasticity, Decreased motor nerve conduction velocity, Distal sensory impai... OMIM:609260
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema... OMIM:613237
Intellectual Developmental Disorder, Autosomal Recessive 48
Inability to walk, Tremor, Macrotia, Waddling gait OMIM:616269
Spastic Paraplegia Type 7
Somatic sensory dysfunction, Impaired vibration sensation in the lower limbs, Lower limb pain, Ba... ORPHA:99013
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dementia, Dystonia, Urinary urgency OMIM:605909
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Undetectable visual evoked potentials, Arm dystonia, Episodic ataxia, Incoordination, Gait ataxia... OMIM:601338
Ceroid Lipofuscinosis, Neuronal, 5
Abnormal nervous system electrophysiology, Myoclonus, Dysmetria, Loss of ambulation, Clumsiness, ... OMIM:256731
Spinocerebellar Ataxia 25
Impaired pain sensation, Hearing impairment, Babinski sign, Oculomotor apraxia, Ataxia, Abolished... OMIM:608703
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Impaired pain sensation, Tremor, Gait disturbance, Ataxia ORPHA:101075
Paramyotonia Congenita Of Von Eulenburg
Handgrip myotonia, Myotonia, Periodic hypokalemic paresis, Percussion myotonia, Myotonia of the f... ORPHA:684
Developmental And Epileptic Encephalopathy 97
Inability to walk, Hypsarrhythmia, Tremor OMIM:619561
Autosomal Dominant Spastic Paraplegia Type 10
Spastic paraparetic gait, Hearing impairment, Paresthesia, Distal sensory impairment, Ankle clonu... ORPHA:100991
Metachromatic Leukodystrophy
Addictive behavior, Tip-toe gait, Hearing impairment, Incoordination, Impaired continence, Limb p... ORPHA:512
Lichtenstein-Knorr Syndrome
Limb ataxia, Gait ataxia, Action tremor, Dysmetria, Sensorineural hearing impairment, Ataxia, Dys... OMIM:616291
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Dysmetria, Elevated circulating creatine kinase concentration, Ataxia, Unsteady gait, Inc... OMIM:619405
Epilepsy, Familial Adult Myoclonic, 1
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... OMIM:601068
Indifference To Pain, Congenital, Autosomal Recessive
Pain insensitivity, Painless fractures due to injury, Impaired temperature sensation, Paresthesia... OMIM:243000
Friedreich Ataxia
Spasticity, Falls, Decreased motor nerve conduction velocity, Cardiomyopathy, Urinary bladder sph... ORPHA:95
Spinocerebellar Ataxia 23
Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Bab... OMIM:610245
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Shuffling gait, Involuntary movements, Resting tremor, Inability to... ORPHA:391411
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,... OMIM:610725
Intellectual Developmental Disorder, X-Linked 98
Failure to thrive, Bulimia, Bruxism, Stereotypical body rocking, Recurrent hand flapping, Stereot... OMIM:300912
Episodic Ataxia Type 1
Tip-toe gait, Myotonia, Clumsiness, Hypertonia, Nausea, Poor coordination, Choreoathetosis ORPHA:37612
Spastic Paraplegia Type 2
Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Spastic/hyperactive blad... ORPHA:99015
Amyotrophic Dystonic Paraplegia
Urinary incontinence, Spastic paraplegia, Bowel incontinence OMIM:105300
Spinocerebellar Ataxia 7
Mental deterioration, Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor ... OMIM:164500
Spinocerebellar Ataxia Type 10
Gait imbalance, Gait ataxia, Intention tremor, Dysmetria, Urinary urgency, Babinski sign, Kinetic... ORPHA:98761
Immunoneurologic Disorder, X-Linked
Spastic paraplegia, Functional abnormality of the bladder, Small for gestational age OMIM:300076
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Developmental And Epileptic Encephalopathy 56
Broad-based gait, EEG with polyspike wave complexes, Action tremor, Attention deficit hyperactivi... OMIM:617665
Adrenomyeloneuropathy
Urinary incontinence, Spasticity, Urinary retention, Male sexual dysfunction, Progressive spastic... ORPHA:139399
Childhood Disintegrative Disorder
Urinary incontinence, Motor stereotypy, Bowel incontinence ORPHA:168782
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Tremor, Hypertonia, Progressive neurologic deterioration, Dystonia, Dysphagia, Choreoa... OMIM:261630
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus ... OMIM:607876
Metachromatic Leukodystrophy
Chorea, Babinski sign, Gait disturbance, Tetraplegia, Ataxia, Urinary incontinence, Spastic tetra... OMIM:250100
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
X-Linked Charcot-Marie-Tooth Disease Type 4
Impaired pain sensation, Decreased nerve conduction velocity, Tremor, Gait disturbance, Ataxia ORPHA:101078
Late-Infantile/Juvenile Krabbe Disease
Mental deterioration, Spastic paraparesis, Difficulty walking, Impaired tactile sensation, Loss o... ORPHA:206443
Optic Atrophy 3, Autosomal Dominant
Hearing impairment, Tremor, Abnormality of extrapyramidal motor function OMIM:165300
X-Linked Charcot-Marie-Tooth Disease Type 3
Spastic paraparesis, Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Diff... ORPHA:101077
Adult-Onset Autosomal Dominant Leukodystrophy
Spasticity, Tetraparesis, Action tremor, Distal sensory impairment, Abnormal pyramidal sign, Clon... ORPHA:99027
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the urethra, Urinary retention, Amenorrhea, Oligomenorrhea, Urinary incontinence, ... ORPHA:2795
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, Stage 5 c... OMIM:614196
Deafness-Infertility Syndrome
Sensorineural hearing impairment ORPHA:94064
Dystonia 11, Myoclonic
Myoclonus, Writer's cramp, Tremor, Torticollis OMIM:159900
Multiple System Atrophy 1, Susceptibility To
Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia, Urinary incontinence, Bradykinesia, Impote... OMIM:146500
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Neurodegeneration With Brain Iron Accumulation 7
Dysmetria, Tremor, Loss of ambulation, Lower limb spasticity, Ataxia, Increased circulating very ... OMIM:617916
Intellectual Developmental Disorder, Autosomal Recessive 50
Sensorineural hearing impairment OMIM:616460
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Polycythemia, Increased total iron binding capacity, Tremor, Rigidity, Dysto... OMIM:613280
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Short attention span, Tremor, Dysmetria, Impaired tandem gait, Lower limb spasticity, ... OMIM:619028
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, EEG with spike-wave complexes, Myoclonus, Gait ataxia, Tremor, EEG with polyspike wave co... OMIM:618587
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Tremor, Aggressive behavior, Hyperactivity, Spastic tetraparesis, Motor stereot... OMIM:619470
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Mental deterioration, Neuromuscular dysphagia, Falls, Memory impairment, Tremor, Rigidity, Dyston... ORPHA:240085
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Spasticity, Limb ataxia, Gait ataxia, Splenomegaly, ... OMIM:616719
Episodic Ataxia, Type 2
Myotonia, Episodic ataxia, Paresthesia, Dystonia, Progressive cerebellar ataxia OMIM:108500
Ataxia With Vitamin E Deficiency
Mental deterioration, Hypertrophic cardiomyopathy, Dysmetria, Hemiplegia/hemiparesis, Tremor, Arr... ORPHA:96
Spinocerebellar Ataxia 19
Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Myoclonus, Cognitive impairment, Tr... OMIM:607346
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Hearing impairment, Abnormality of the liver, Tremor, Biliary tract ... ORPHA:79234
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, High-frequency sensorineural hearing impairment, Difficulty walking, Inability to... ORPHA:2590
Progressive Supranuclear Palsy-Corticobasal Syndrome
Mental deterioration, Involuntary movements, Memory impairment, Somatic sensory dysfunction, Limb... ORPHA:240103
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Urinary incontinence, Spasticity