Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
spectrin beta, non-erythrocytic 4
Synonyms:
dyn,  SpbIV,  neuroaxonal dystrophy,  5830426A08Rik,  ROSA62,  nmf261,  1700022P15Rik,  Spnb4

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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 Sptbn4 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 Sptbn4 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Peripheral axonal neuropathy, Sensorineural he... OMIM:617519

The table below shows human diseases predicted to be associated to Sptbn4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spinal Arachnoiditis
Spastic paraparesis OMIM:182950
Deafness, Aminoglycoside-Induced
Aminoglycoside-induced hearing loss OMIM:580000
Deafness, Autosomal Dominant 17
High-frequency hearing impairment OMIM:603622
Deafness, Autosomal Dominant 7
High-frequency hearing impairment OMIM:601412
Deafness, Autosomal Dominant 2B
High-frequency hearing impairment OMIM:612644
Deafness, Autosomal Recessive 91
Progressive hearing impairment OMIM:613453
Deafness, Autosomal Dominant 65
Progressive hearing impairment OMIM:616044
Deafness, Autosomal Recessive 112
Progressive hearing impairment OMIM:618257
Deafness, Autosomal Recessive 102
Profound hearing impairment OMIM:615974
Deafness, Autosomal Dominant 18
Progressive hearing impairment OMIM:606012
Deafness, Autosomal Dominant 73
Hearing impairment OMIM:617663
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Recessive 89
Hearing impairment OMIM:613916
Deafness, Autosomal Dominant 74
Hearing impairment OMIM:618140
Deafness, Autosomal Recessive 74
Hearing impairment OMIM:613718
Deafness, Autosomal Recessive 33
Hearing impairment OMIM:607239
Deafness, Autosomal Dominant 56
Hearing impairment OMIM:615629
Deafness, Autosomal Dominant 54
Hearing impairment OMIM:615649
Deafness, Autosomal Dominant 52
Hearing impairment OMIM:607683
Deafness, Autosomal Recessive 88
Hearing impairment OMIM:615429
Deafness, Autosomal Recessive 106
Hearing impairment OMIM:617637
Deafness, Autosomal Recessive 107
Hearing impairment OMIM:617639
Deafness, Autosomal Dominant 15
Hearing impairment OMIM:602459
Deafness, Autosomal Recessive 70
Hearing impairment OMIM:614934
Deafness, Autosomal Recessive 18B
Hearing impairment OMIM:614945
Deafness, Autosomal Recessive 65
Hearing impairment OMIM:610248
Deafness, Autosomal Recessive 86
Hearing impairment OMIM:614617
Deafness, Autosomal Dominant 4B
Hearing impairment OMIM:614614
Deafness, Autosomal Dominant 24
Hearing impairment OMIM:606282
Deafness, Autosomal Recessive 6
Hearing impairment OMIM:600971
Deafness, Autosomal Dominant 51
Hearing impairment OMIM:613558
Deafness, Autosomal Recessive 96
Hearing impairment OMIM:614414
Deafness, Autosomal Recessive 93
Hearing impairment OMIM:614899
Deafness, Autosomal Recessive 55
Hearing impairment OMIM:609952
Deafness, Autosomal Recessive 47
Hearing impairment OMIM:609946
Mental Retardation With Spastic Paraplegia
Spastic paraplegia, Slowly progressive spastic quadriparesis OMIM:309640
Deafness, Autosomal Recessive 84B
Hearing impairment, Vestibular hypofunction OMIM:614944
Deafness, Autosomal Recessive 1B
Hearing impairment, Vestibular dysfunction OMIM:612645
Deafness, Autosomal Recessive 84A
Hearing impairment, Vestibular dysfunction OMIM:613391
Spastic Paraplegia With Associated Extrapyramidal Signs
Spastic paraplegia, Abnormality of extrapyramidal motor function OMIM:182800
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Deafness, Autosomal Recessive 25
Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Spastic Paraplegia 34, X-Linked
Spastic paraplegia, Spastic gait, Babinski sign, Clonus, Paraplegia OMIM:300750
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Optic atrophy, Babinski sign OMIM:311050
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Postural tremor, Kinetic tremor, Tongue tremor, Intention tremor OMIM:616736
Deafness, Autosomal Recessive 30
Progressive sensorineural hearing impairment, Progressive hearing impairment OMIM:607101
Myelopathy, Htlv-1-Associated
Abnormal pyramidal sign, Spastic paraparesis OMIM:159580
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Somatic sensory dysfunction, Steppage gait, Hand tremor, Sensorineural hearing impairment OMIM:300905
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
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 57
Hearing impairment, Sensorineural hearing impairment OMIM:618003
Deafness, Autosomal Recessive 20
Hearing impairment, Sensorineural hearing impairment OMIM:604060
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Abnormal cerebellum morpholo... OMIM:270500
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups
EEG abnormality OMIM:130300
Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon
EEG abnormality OMIM:130200
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination, Lower limb spasticity, Spastic gait, Babinski sign, Hand tremor, Progressiv... ORPHA:401840
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Spastic Paraplegia, Epilepsy, And Mental Retardation
Spastic paraplegia, Spastic paraparesis OMIM:182610
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Progressive spast... OMIM:210000
Glutathionuria
Tremor OMIM:231950
Spastic Paresis, Glaucoma, And Mental Retardation
Spastic paraplegia OMIM:270850
Ataxia-Deafness-Retardation Syndrome
Progressive sensorineural hearing impairment, Ataxia OMIM:208850
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Diffuse cerebellar... ORPHA:363710
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
Spinocerebellar Ataxia 29
Dysdiadochokinesis, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor, ... OMIM:117360
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Cerebellar atrophy, Dysmetria OMIM:617917
Neuropathy, Hereditary Sensory, Atypical
Sensory ataxia, Babinski sign, Ataxia OMIM:256860
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Difficulty walking, Progressive gait ataxia, Spasticity, Progressive cerebellar ataxi... ORPHA:284332
Episodic Ataxia, Type 1
Episodic ataxia, Tremor, Incoordination, Vertigo, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Pontocerebellar atrophy, Unsteady gait, Dysmetria, Inten... OMIM:616053
Spinocerebellar Ataxia Type 40
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Pontocerebellar atrophy, Unsteady gait, Dys... ORPHA:423275
Cerebellar Ataxia And Neurosensory Deafness
Sensorineural hearing impairment, Ataxia OMIM:212850
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... ORPHA:276193
Spinocerebellar Ataxia, Autosomal Recessive 22
Truncal ataxia, Abnormal pyramidal sign, Ataxia, Lower limb spasticity, Unsteady gait, Cerebellar... OMIM:616948
Spastic Paraplegia-Glaucoma-Intellectual Disability Syndrome
Paraplegia, Spasticity ORPHA:2818
Episodic Ataxia Type 5
Vertigo, Truncal ataxia, Ataxia ORPHA:211067
Spinocerebellar Ataxia, Autosomal Recessive 17
Tremor, Truncal ataxia, Cerebellar hypoplasia, Unsteady gait, Dysmetria OMIM:616127
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Cerebellar atrophy, Dysmetria OMIM:616291
Spinocerebellar Ataxia 35
Incoordination, Difficulty walking, Ataxia, Torticollis, Cerebellar atrophy, Dysmetria, Intention... OMIM:613908
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Sensory axonal neuropathy, Cerebellar atroph... OMIM:607458
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Impaired vibratory sensation, Hearing impairment, Spasticity ORPHA:217012
Spastic Paraplegia 24, Autosomal Recessive
Spastic paraplegia, Clonus, Spasticity OMIM:607584
Autosomal Recessive Spastic Paraplegia Type 24
Spastic paraplegia, Sensorineural hearing impairment, Clonus, Tip-toe gait, Scissor gait, Spasticity ORPHA:101004
Spinocerebellar Ataxia 46
Positive Romberg sign, Gait ataxia, Limb ataxia, Sensory axonal neuropathy, Cerebellar atrophy, D... OMIM:617770
Spinocerebellar Ataxia, Autosomal Recessive 10
Gait ataxia, Truncal ataxia, Limb ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Fascic... OMIM:613728
Spinocerebellar Ataxia Type 23
Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Impaired distal vibration sensation, Dys... ORPHA:101108
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Infantile-Onset Ascending Hereditary Spastic Paralysis
Spastic paraplegia, Abnormal pyramidal sign, Spastic tetraplegia, Tetraplegia, Spasticity ORPHA:293168
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... ORPHA:98762
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Action tremor, Craniofacial dystonia, Torticollis, J... ORPHA:98807
Spinocerebellar Ataxia Type 4
Impaired vibratory sensation, Impaired tactile sensation, Gait disturbance, Ataxia, Impaired prop... ORPHA:98765
Spinocerebellar Ataxia 7
Tremor, Pigmentary retinopathy, Abnormality of extrapyramidal motor function, Chorea, Progressive... OMIM:164500
Autosomal Recessive Spastic Paraplegia Type 27
Dysdiadochokinesis, Spastic paraplegia, Impaired vibration sensation at ankles, Sensorineural hea... ORPHA:101007
Deafness, Autosomal Recessive 110
Sensorineural hearing impairment, Vestibular dysfunction OMIM:618094
Deafness, Autosomal Recessive 1A
Sensorineural hearing impairment, Vestibular dysfunction OMIM:220290
Cataract-Ataxia-Deafness-Retardation Syndrome
Adult onset sensorineural hearing impairment, Ataxia, Distal sensory impairment OMIM:212710
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Ankle clonus, Ataxia, Lower limb spasticity, Spastic gait, Cerebellar atrophy... OMIM:610357
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Spinocerebellar Ataxia, Autosomal Recessive 18
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Incoordination, Oculomotor apraxia, Ataxia, Cere... OMIM:616204
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Cerebellar atrophy, Dysmetria, Hyperactivity, Rigidity OMIM:618090
Spinocerebellar Ataxia, Autosomal Recessive 6
Gait ataxia, Clumsiness, Ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Spasticity OMIM:608029
X-Linked Progressive Cerebellar Ataxia
Dysdiadochokinesis, Clumsiness, Progressive gait ataxia, Limb ataxia, Axonal loss, Progressive ce... ORPHA:1175
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Clumsiness, Ataxia, Retinal degeneration, Cerebellar atrophy, Abnormal nervou... OMIM:256731
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Peripheral axonal neuropathy, Dysmetria, Distal ... OMIM:618387
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Posterior Column Ataxia
Impaired vibratory sensation, Ataxia, Impaired proprioception OMIM:176250
Deafness, Autosomal Recessive 111
Progressive sensorineural hearing impairment OMIM:618145
Deafness, Autosomal Recessive 3
Profound sensorineural hearing impairment OMIM:600316
Deafness, Autosomal Dominant 4A
Progressive sensorineural hearing impairment OMIM:600652
Deafness, Autosomal Recessive 71
Prelingual sensorineural hearing impairment OMIM:612789
Deafness, Autosomal Recessive 62
Prelingual sensorineural hearing impairment OMIM:610143
Deafness, Autosomal Recessive 49
Prelingual sensorineural hearing impairment OMIM:610153
Deafness, Autosomal Recessive 44
Prelingual sensorineural hearing impairment OMIM:610154
Deafness, Autosomal Recessive 24
Profound sensorineural hearing impairment OMIM:611022
Deafness, Autosomal Recessive 83
Prelingual sensorineural hearing impairment OMIM:613685
Deafness, Autosomal Recessive 46
Profound sensorineural hearing impairment OMIM:609647
Deafness, Autosomal Dominant 70
Progressive sensorineural hearing impairment OMIM:616968
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment OMIM:616515
Deafness, Autosomal Recessive 28
Severe sensorineural hearing impairment OMIM:609823
Deafness, Autosomal Recessive 12
Prelingual sensorineural hearing impairment OMIM:601386
Deafness, Autosomal Recessive 40
Prelingual sensorineural hearing impairment OMIM:608264
Deafness, Autosomal Recessive 39
Prelingual sensorineural hearing impairment OMIM:608265
Deafness, Autosomal Recessive 45
Prelingual sensorineural hearing impairment OMIM:612433
Deafness, Autosomal Dominant 5
Progressive sensorineural hearing impairment OMIM:600994
Deafness, Autosomal Dominant 78
Profound sensorineural hearing impairment OMIM:619081
Deafness, Autosomal Dominant 79
Progressive sensorineural hearing impairment OMIM:619086
Deafness, Autosomal Recessive 38
Prelingual sensorineural hearing impairment OMIM:608219
Deafness, Autosomal Recessive 76
Progressive sensorineural hearing impairment OMIM:615540
Deafness, Autosomal Recessive 85
Prelingual sensorineural hearing impairment OMIM:613392
Deafness, Autosomal Dominant 20
Progressive sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:604717
Deafness, Autosomal Dominant 6
Progressive sensorineural hearing impairment, Low-frequency sensorineural hearing impairment OMIM:600965
Deafness, Autosomal Dominant 3B
Adult onset sensorineural hearing impairment OMIM:612643
Deafness, Autosomal Recessive 77
Bilateral sensorineural hearing impairment OMIM:613079
Deafness, Autosomal Recessive 63
Congenital sensorineural hearing impairment OMIM:611451
Deafness, Autosomal Recessive 101
Bilateral sensorineural hearing impairment OMIM:615837
Deafness, Autosomal Dominant 31
Old-aged sensorineural hearing impairment OMIM:608645
Deafness, X-Linked 3
Congenital sensorineural hearing impairment OMIM:300030
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Cerebellar atrophy, Impaired vibration sensation in the lower l... OMIM:610245
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Tremor, Apraxia, Gait ataxia, Cerebellar hypoplasia, Cerebellar atrophy, EEG a... OMIM:617810
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Cerebellar atrophy, Dysmetria, Babinski sig... OMIM:611302
Deafness, Autosomal Recessive 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment OMIM:601869
Deafness, Autosomal Dominant 22
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:606346
Deafness, Autosomal Recessive 79
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:613307
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:221745
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Deafness, Autosomal Recessive 17
Sensorineural hearing impairment OMIM:603010
Deafness, Autosomal Recessive 8
Sensorineural hearing impairment OMIM:601072
Deafness, Autosomal Recessive 26
Sensorineural hearing impairment OMIM:605428
Deafness, Autosomal Dominant 48
Sensorineural hearing impairment OMIM:607841
Deafness, Autosomal Dominant 40
Sensorineural hearing impairment OMIM:616357
Deafness, Autosomal Dominant 37
Sensorineural hearing impairment OMIM:618533
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment OMIM:618778
Deafness, Autosomal Dominant 76
Sensorineural hearing impairment OMIM:618787
Deafness, Autosomal Recessive 14
Sensorineural hearing impairment OMIM:603678
Deafness, Autosomal Recessive 27
Sensorineural hearing impairment OMIM:605818
Deafness, Autosomal Recessive 68
Sensorineural hearing impairment OMIM:610419
Deafness, Autosomal Recessive 21
Sensorineural hearing impairment OMIM:603629
Deafness, Autosomal Recessive 66
Sensorineural hearing impairment OMIM:610212
Deafness, Autosomal Recessive 5
Sensorineural hearing impairment OMIM:600792
Deafness, Autosomal Recessive 59
Sensorineural hearing impairment OMIM:610220
Deafness, Autosomal Dominant 59
Sensorineural hearing impairment OMIM:612642
Deafness, Autosomal Recessive 61
Sensorineural hearing impairment OMIM:613865
Deafness, Autosomal Recessive 117
Sensorineural hearing impairment OMIM:619174
Deafness, Autosomal Recessive 22
Sensorineural hearing impairment OMIM:607039
Deafness, Autosomal Dominant 21
Sensorineural hearing impairment OMIM:607017
Deafness, Autosomal Dominant 68
Sensorineural hearing impairment OMIM:616707
Deafness, Autosomal Recessive 97
Sensorineural hearing impairment OMIM:616705
Deafness, Autosomal Recessive 35
Sensorineural hearing impairment OMIM:608565
Deafness, Autosomal Recessive 42
Sensorineural hearing impairment OMIM:609646
Deafness, Autosomal Dominant 66
Sensorineural hearing impairment OMIM:616969
Deafness, Autosomal Dominant 44
Sensorineural hearing impairment OMIM:607453
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment OMIM:618915
Deafness, Autosomal Dominant 71
Sensorineural hearing impairment OMIM:617605
Deafness, Neural, Congenital Moderate
Sensorineural hearing impairment OMIM:221500
Deafness, X-Linked 1
Sensorineural hearing impairment OMIM:304500
Deafness, Autosomal Recessive 113
Sensorineural hearing impairment OMIM:618410
Neuropathy, Hereditary Motor And Sensory, With Deafness, Mental Retardation, And Absent Sensory Large Myelinated Fibers
Sensorineural hearing impairment OMIM:214370
Deafness, Autosomal Recessive 100
Sensorineural hearing impairment OMIM:618422
Deafness, Autosomal Recessive 114
Sensorineural hearing impairment OMIM:618456
Deafness, Autosomal Recessive 115
Sensorineural hearing impairment OMIM:618457
Deafness, Autosomal Recessive 99
Sensorineural hearing impairment OMIM:618481
Deafness, Y-Linked 2
Sensorineural hearing impairment OMIM:400047
Deafness, Autosomal Dominant 10
Sensorineural hearing impairment OMIM:601316
Deafness, Autosomal Dominant 3A
Sensorineural hearing impairment OMIM:601544
Deafness, Autosomal Recessive 16
Sensorineural hearing impairment OMIM:603720
Deafness, Autosomal Dominant 12
Sensorineural hearing impairment OMIM:601543
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Dominant 69
Sensorineural hearing impairment OMIM:616697
Deafness, Autosomal Dominant 27
Sensorineural hearing impairment OMIM:612431
Deafness, Autosomal Recessive 98
Sensorineural hearing impairment OMIM:614861
Deafness, Autosomal Recessive 116
Sensorineural hearing impairment OMIM:619093
Deafness, Autosomal Recessive 31
Sensorineural hearing impairment OMIM:607084
Deafness, Autosomal Recessive 7
Sensorineural hearing impairment OMIM:600974
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533
Mental Retardation, X-Linked 46
Sensorineural hearing impairment OMIM:300436
Deafness, Autosomal Dominant 47
Sensorineural hearing impairment OMIM:608652
Deafness, Autosomal Dominant 28
Sensorineural hearing impairment OMIM:608641
Deafness, Autosomal Dominant 53
Sensorineural hearing impairment OMIM:609965
Deafness, Autosomal Dominant 30
Sensorineural hearing impairment OMIM:606451
Deafness, Autosomal Recessive 18A
Sensorineural hearing impairment OMIM:602092
Deafness, Autosomal Recessive 53
Sensorineural hearing impairment OMIM:609706
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment OMIM:605583
Deafness, Autosomal Recessive 51
Sensorineural hearing impairment OMIM:609941
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Abasia, Ataxia OMIM:209100
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Ataxia, Optic atrophy OMIM:136600
Epilepsy, Progressive Myoclonic, 1B
Sensory axonal neuropathy, Tremor, Babinski sign, Dysmetria OMIM:612437
Multiple Mitochondrial Dysfunctions Syndrome 6
Dystonia, Ataxia, Cerebellar atrophy, Hearing impairment, Dysmetria, Failure to thrive, Optic dis... OMIM:617954
Spastic Paraplegia 77, Autosomal Recessive
Spastic paraplegia, Babinski sign OMIM:617046
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Cerebellar hypoplasia, Truncal ataxia, Ataxia OMIM:617584
Epilepsy, Familial Adult Myoclonic, 1
Tremor, EEG with photoparoxysmal response, Giant somatosensory evoked potentials, Enhancement of ... OMIM:601068
Spastic Paraplegia 2, X-Linked
Spastic paraplegia, Spastic paraparesis, Lower limb spasticity, Spastic gait, Abnormal cerebellum... OMIM:312920
Cerebellar Ataxia And Albinism
Head tremor, Ataxia OMIM:258300
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Tremor, Myoclonus, Dystonia OMIM:611092
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Progressive sensorineural hearing impairment, Dystonia, Gait ataxia, Truncal ataxia, Episodic ata... OMIM:601338
Amyotrophic Lateral Sclerosis 4, Juvenile
Diffuse axonal swelling, Difficulty walking, Abnormal lower motor neuron morphology, Degeneration... OMIM:602433
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Dystonia, Gait ataxia, Spastic ataxia, Cerebellar hypoplasia, Progressive cerebellar ataxia, Dysm... ORPHA:314603
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Decreased nerve conduction velocity, Ataxia, Cerebellar atrophy, Sensorineural hearing impairment... OMIM:612674
Neuronopathy, Distal Hereditary Motor, Type Viia
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Dystonia, Tremor, Gait ataxia, Limb ataxia, Gait disturbance, Abnormal pyrami... OMIM:617145
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Spastic Ataxia 4, Autosomal Recessive
Spastic ataxia, Spastic paraparesis, Babinski sign OMIM:613672
Spastic Paraplegia 5A, Autosomal Recessive
Spastic paraplegia, Limb dysmetria, Spastic gait, Lower limb spasticity, Impaired vibration sensa... OMIM:270800
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Progressive cerebellar ataxia, Ce... OMIM:604326
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Limb ataxia, Cerebellar hypoplasia, Ataxia, Unsteady gait, D... OMIM:213200
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Hypogonadotropic hypogonadism, Ataxia ORPHA:1180
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Clumsiness, Impaired vibratory sensation, Difficulty walking, Limb ataxia, Progr... ORPHA:284324
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Axonal loss, Ataxia, Cerebellar atrophy, Hearing impairment, Dysmetria, Babinski sign, To... OMIM:618170
Spastic Paraplegia 57, Autosomal Recessive
Spastic paraplegia, Inability to walk, Somatic sensory dysfunction, Babinski sign, Optic atrophy OMIM:615658
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tremor, Incoordination, Decreased motor nerve conduction velocity, Hand tremor, Difficulty walkin... OMIM:302800
Dystonia 3, Torsion, X-Linked
Tremor, Torsion dystonia, Parkinsonism with favorable response to dopaminergic medication, Chorea... OMIM:314250
Leukodystrophy, Hypomyelinating, 18
Dystonia, Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity, Cerebell... OMIM:618404
Tapetoretinal Degeneration With Ataxia
Ataxia OMIM:272600
Episodic Ataxia, Type 8
Episodic ataxia, Slurred speech, Ataxia, Intention tremor OMIM:616055
Spastic Paraparesis And Deafness
Hearing impairment, Hypogonadism, Tremor, Spastic paraparesis OMIM:312910
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Dystonia, Gait ataxia, Clumsiness, Truncal ataxia, Slurred speech, Cerebellar vermis hypoplasia, ... ORPHA:453521
Dystonia 27
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia OMIM:616411
Spinocerebellar Ataxia, Autosomal Recessive 8
Gait ataxia, Limb ataxia, Ataxia, Cerebellar atrophy, Peripheral axonal neuropathy, Dysmetria, Sp... OMIM:610743
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Leukodystrophy, Tremor, Dystonia, Abnormality of extrapyramidal motor function, Gait ... OMIM:614561
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Difficulty walking, Abnorm... ORPHA:98
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility, Bilateral sensorineural heari... OMIM:611102
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Distal sensory impairment, Rigidity OMIM:617018
Primary Dystonia, Dyt27 Type
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Li... ORPHA:464440
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Stereotypy OMIM:617787
Myoclonus, Cerebellar Ataxia, And Deafness
Hearing impairment, Myoclonus, Ataxia OMIM:159800
Cerebellar Ataxia, Cayman Type
Gait ataxia, Truncal ataxia, Nonprogressive cerebellar ataxia, Intention tremor, Broad-based gait ORPHA:94122
Spastic Ataxia 7, Autosomal Dominant
Dysdiadochokinesis, Spastic ataxia, Optic atrophy, Babinski sign OMIM:108650
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:85292
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Frequent falls, Ataxia OMIM:615945
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Dysdiadochokinesis, Progressive truncal ataxia, Diffuse cerebellar atrophy, Progressive gait atax... ORPHA:363429
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Spastic Ataxia 3, Autosomal Recessive
Dystonia, Gait ataxia, Spastic ataxia, Mild hearing impairment, Cerebellar atrophy, Hearing impai... OMIM:611390
Peroxisome Biogenesis Disorder 8B
Spastic paraparesis, Ataxia, Retinal dystrophy, Sensorineural hearing impairment, Cerebellar verm... OMIM:614877
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Dysdiadochokinesis, Vestibular areflexia, Gait ataxia, Progressive cerebellar ataxia, Sensorineur... ORPHA:504476
Spinocerebellar Ataxia, Autosomal Recessive 26
Dysdiadochokinesis, Positive Romberg sign, Limb ataxia, Oculomotor apraxia, Ataxia, Unsteady gait... OMIM:617633
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Intention tremor, Progressive cerebellar ataxia, Myoclonus, Bilateral se... ORPHA:2589
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Dystonia, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
Olivopontocerebellar Atrophy-Deafness Syndrome
Chorioretinal coloboma, Hypertonia, Ataxia, Hearing impairment, EEG abnormality, Olivopontocerebe... ORPHA:2732
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Chorea, Abnormal pyramidal sign, Ataxia, Bradykinesia, Abnormal cerebellum morphology, ... OMIM:618317
Spinocerebellar Ataxia 13
Gait ataxia, Limb dysmetria, Limb ataxia, Abnormal pyramidal sign, Progressive cerebellar ataxia,... OMIM:605259
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia, EEG abnormality OMIM:617831
Neuronopathy, Distal Hereditary Motor, Type Iib
Difficulty walking, Paralysis OMIM:608634
Spinocerebellar Ataxia 14
Gait ataxia, Impaired vibration sensation at ankles, Progressive cerebellar ataxia, Cerebellar at... OMIM:605361
Spastic Paraparesis-Deafness Syndrome
Spastic paraparesis, Gait disturbance, Ataxia, Hemiplegia/hemiparesis, Sensorineural hearing impa... ORPHA:2815
Spinocerebellar Ataxia 44
Dysdiadochokinesis, Gait ataxia, Ataxia, Cerebellar atrophy, Dysmetria, Frequent falls, Tinnitus,... OMIM:617691
Spinocerebellar Ataxia, Autosomal Recessive 14
Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Spasticity OMIM:615386
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination, Lower limb spasticity, Progressive spastic paraplegia, Hand tremor ORPHA:401835
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Impaired tandem gait, Cerebellar atrophy, Myoclonus, Dysme... OMIM:619028
Spinocerebellar Ataxia 48
Dystonia, Tremor, Gait ataxia, Chorea, Ataxia, Cerebellar atrophy, Parkinsonism, Cachexia, Dysmet... OMIM:618093
Ataxia, Deafness, And Cardiomyopathy
Sensorineural hearing impairment, Ataxia OMIM:208750
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction, Cerebellar atrophy ORPHA:423296
Spastic Paraplegia 48, Autosomal Recessive
Spastic paraplegia, Ataxia, Lower limb spasticity, Spastic gait, Parkinsonism, Dysmetria, Retinop... OMIM:613647
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Ataxia-Pancytopenia Syndrome
Decreased nerve conduction velocity, Ankle clonus, Ataxia, Unsteady gait, Cerebellar atrophy, Imp... OMIM:159550
Neurodegeneration With Brain Iron Accumulation 7
Loss of ability to walk, Ataxia, Cerebellar atrophy, Dysmetria, Spasticity OMIM:617916
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Dysdiadochokinesis, Decreased nerve conduction velocity, Hypertonia, Ataxia, Cerebellar atrophy, ... OMIM:618356
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Ataxia, Giant somatosensory evoked potentials, Cerebellar atrophy, ... OMIM:618876
Ceroid Lipofuscinosis, Neuronal, 11
Ataxia, Retinal dystrophy, Cerebellar atrophy, EEG abnormality, Optic atrophy OMIM:614706
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Tremor, Enhancement of the C-reflex, Jerk-locked premyoclonus spikes OMIM:615127
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Cerebellar hypoplasia, Cerebellar atrophy, Dysme... OMIM:224050
Ravine Syndrome
Decreased body weight, Ataxia, Abnormal auditory evoked potentials, Failure to thrive, Spasticity ORPHA:99852
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Inability to walk, Tremor, Gait ataxia, Abnormal pyramidal sign, Ataxia, Retr... OMIM:614831
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Inability to walk, Gait ataxia, Chorea, Ataxia, Cerebellar vermis atrophy, Dysmetria OMIM:618501
Leukodystrophy, Hypomyelinating, 16
Dystonia, Gait ataxia, Hypertonia, Abnormal pyramidal sign, Dysmetria, Intention tremor, Broad-ba... OMIM:617964
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Steppage gait, Toe walking, Peripheral axonal degenera... OMIM:614436
Spinocerebellar Ataxia, Autosomal Recessive 12
Gait ataxia, Limb ataxia, Ataxia, Retinal degeneration, Cerebellar atrophy, Babinski sign, Optic ... OMIM:614322
Developmental And Epileptic Encephalopathy 56
Poor coordination, Ataxia, EEG abnormality, Attention deficit hyperactivity disorder, Broad-based... OMIM:617665
Spinocerebellar Ataxia Type 1
Dysdiadochokinesis, Postural tremor, Dystonia, Chorea, Slurred speech, Gait disturbance, Abnormal... ORPHA:98755
Spastic Paraplegia 76, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Difficulty walking, Ataxia, Sensory axonal neuropathy, Lower lim... OMIM:616907
Spastic Ataxia, Charlevoix-Saguenay Type
Progressive truncal ataxia, Decreased motor nerve conduction velocity, Decreased sensory nerve co... OMIM:270550
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Dystonia, Apraxia, Tremor, Spastic paraparesis, Incoordination, Cerebral atro... OMIM:615157
Peroxisome Biogenesis Disorder 5B
Tremor, Oculomotor apraxia, Ataxia, Retinal dystrophy, Unsteady gait, Cerebellar atrophy, Sensori... OMIM:614867
Spastic Paraplegia 35, Autosomal Recessive
Spastic paraplegia, Dystonia, Spastic paraparesis, Difficulty walking, Spastic tetraparesis, Ankl... OMIM:612319
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Lethargy, Hemiparesis, Paralysis, Ataxia, Myoclonus, Babinski sign, Choreoat... OMIM:606777
Neurodegeneration With Brain Iron Accumulation
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Cerebellar atrophy, Retinopathy, ... ORPHA:385
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Dysdiadochokinesis, Truncal ataxia, Progressive gait ataxia, Slurred speech, Progressive cerebell... ORPHA:352403
Spinocerebellar Ataxia 31
Limb ataxia, Gait ataxia, Sensorineural hearing impairment, Ataxia OMIM:117210
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Atrophy of the dentate nucleus, Tremor, Truncal ataxia, Aplasia of the inferi... OMIM:610185
Spinocerebellar Ataxia Type 29
Dysdiadochokinesis, Gait ataxia, Oculomotor apraxia, Ataxia, Cerebellar atrophy, Cerebellar vermi... ORPHA:208513
Deafness-Infertility Syndrome
Male infertility, Azoospermia, Sensorineural hearing impairment ORPHA:94064
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Gait ataxia, Difficulty walking, Oculomotor apraxia, Cerebellar hypoplasia, Cerebellar at... ORPHA:529665
Spinocerebellar Ataxia Type 18
Gait ataxia, Head tremor, Somatic sensory dysfunction, Cerebellar atrophy, Hearing impairment, Pe... ORPHA:98771
Spastic Paraplegia 79, Autosomal Recessive
Spastic paraplegia, Tetraparesis, Head titubation, Ankle clonus, Ataxia, Cerebellar atrophy, Dysm... OMIM:615491
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Abnormal nerve conduction velocity, Gait disturbance, Ataxia, Hearing impairment, Impaire... ORPHA:101075
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Gait ataxia, Paralysis, Progressive cerebellar ataxia, Cerebellar atrophy, Dysmetria, Limb fascic... OMIM:606183
Epilepsy, Familial Adult Myoclonic, 3
Tremor, EEG with photoparoxysmal response, Difficulty walking, Giant somatosensory evoked potenti... OMIM:613608
Spinocerebellar Ataxia 10
Dysdiadochokinesis, Gait ataxia, Incoordination, Abnormality of extrapyramidal motor function, Li... OMIM:603516
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function, Hearing impairment, Optic atrophy, Optic di... OMIM:165300
Ataxia-Oculomotor Apraxia 3
Oculomotor apraxia, Ataxia, Cerebellar atrophy, Dysmetria, Distal sensory impairment, Frequent falls OMIM:615217
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls ORPHA:494526
Leukodystrophy, Hypomyelinating, 9
Abnormality of extrapyramidal motor function, Ataxia, Dysmetria, Intention tremor, Spasticity OMIM:616140
Optic Atrophy 11
Facial diplegia, Macrotia, Hyperkinetic movements, Cerebellar hypoplasia, Ataxia, Hearing impairm... OMIM:617302
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Spinocerebellar Ataxia 5
Dysdiadochokinesis, Gait ataxia, Incoordination, Impaired vibratory sensation, Limb ataxia, Inten... OMIM:600224
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gait disturbance, Degeneration of anterior horn cells, Decreased number of peripheral myelinated ... OMIM:604484
Alpers-Huttenlocher Syndrome
Spastic paraparesis, Paraparesis, Ataxia, Myoclonus, Progressive spasticity, Choreoathetosis, Spa... ORPHA:726
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Unsteady gait, Frequent falls OMIM:616921
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Intention tremor, Head titubation, Ataxia, Dysmetria, Babinski sign, Optic atrophy OMIM:618688
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Peripheral demyelination, Spastic ataxia, Chorea, Erratic myoclonus, Abnorma... ORPHA:397946
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Ataxia, EEG with polyspike wave complexes, Myoclonus, Intention tremor, Morning myoc... ORPHA:308
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Spinocerebellar Ataxia 17
Positive Romberg sign, Dystonia, Apraxia, Gait ataxia, Chorea, Limb ataxia, Ataxia, Bradykinesia,... OMIM:607136
Autosomal Recessive Spastic Paraplegia Type 67
Difficulty walking, Limb tremor, Spastic gait, Lower limb spasticity, Abnormal myelination, Babin... ORPHA:401820
Myoclonus, Familial, 1
Frequent falls, Falls, Myoclonus, Ataxia OMIM:614937
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Slurred speech, Gait disturbance, A... ORPHA:93952
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia OMIM:616187
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Spastic Ataxia-Corneal Dystrophy Syndrome
Aplasia/Hypoplasia of the cerebellum, Spastic ataxia, Gait disturbance, Ataxia, Hemiplegia/hemipa... ORPHA:2572
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Spinocerebellar Ataxia Type 36
Truncal ataxia, Head tremor, Limb ataxia, Difficulty walking, Ataxia, Tongue fasciculations, Loss... ORPHA:276198
Infantile Neuronal Ceroid Lipofuscinosis
Dystonia, Tremor, Clumsiness, Interictal EEG abnormality, Chorea, Poor fine motor coordination, A... ORPHA:79263
Cataract-Ataxia-Deafness Syndrome
Adult onset sensorineural hearing impairment, Tremor, Hypertonia, Ataxia, Sensorineural hearing i... ORPHA:1368
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Spastic paraplegia, Optic atrophy, Cerebellar hypoplasia, Inability to walk OMIM:618572
Spastic Paraplegia 7, Autosomal Recessive
Dysdiadochokinesis, Spastic paraplegia, Gait ataxia, Spastic ataxia, Slurred speech, Lower limb h... OMIM:607259
Autosomal Spastic Paraplegia Type 30
Progressive spastic paraplegia, Ataxia, Somatic sensory dysfunction, Unsteady gait, Spastic gait,... ORPHA:101010
Leukodystrophy, Hypomyelinating, 11
Leukodystrophy, Tremor, Ataxia, Spasticity OMIM:616494
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Oculomotor apraxia, Cerebellar hypoplasia, Ata... ORPHA:313772
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Low-frequency hearing loss, Sensorineural hearing impairment, Progressive hearing impairment OMIM:124900
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, Abnormal central motor function, Clumsiness, Trunc... ORPHA:228360
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Decreased nerve conduction velocity, Gait disturbance, Ataxia, Hearing impairment, Impair... ORPHA:101078
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Abnormal motor evoked potentials, Ataxia, Somatic sensory dysfunction, Lower ... ORPHA:320401
Spinocerebellar Ataxia Type 5
Gait disturbance, Incoordination, Slurred speech, Cerebellar atrophy ORPHA:98766
Neuronopathy, Distal Hereditary Motor, Type Iia
Paralysis OMIM:158590
Spinocerebellar Ataxia 4
Limb dysmetria, Progressive cerebellar ataxia, Cerebellar atrophy, Babinski sign, Distal sensory ... OMIM:600223
Intellectual Developmental Disorder, X-Linked 72
Stereotypy, Hyperactivity OMIM:300271
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea, Abnormal head movements OMIM:616939
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Cerebellar hypoplasia, Ankle clonus, Unsteady gait, Cerebell... OMIM:615768
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Ataxia, Myoclonus, Dysmetria, Attention deficit hyperactivity disorder OMIM:619191
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Mast Syndrome
Spastic paraplegia, Apraxia, Spastic paraparesis, Babinski sign OMIM:248900
Cerebellar Ataxia, Cayman Type
Gait ataxia, Broad-based gait, Intention tremor OMIM:601238
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Dystonia, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:600116
Spastic Paraplegia 46, Autosomal Recessive
Spastic paraplegia, Limb dysmetria, Head tremor, Upper limb spasticity, Knee clonus, Ankle clonus... OMIM:614409
Spastic Paraplegia 75, Autosomal Recessive
Spastic paraparesis, Cerebellar atrophy, Babinski sign, Dysmetria, Optic atrophy, Spastic dysarthria OMIM:616680
Parkinson Disease 17
Tremor, Akinesia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614203
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Slurred speech, Ankle clonus, Progressive c... ORPHA:284289
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Gait disturbance, Tremor, Babinski sign OMIM:300660
Spinocerebellar Ataxia 38
Gait ataxia, Limb ataxia, Ataxia, Cerebellar atrophy, Peripheral axonal neuropathy OMIM:615957
Spastic Paraplegia 44, Autosomal Recessive
Spastic paraplegia, Upper limb spasticity, Intention tremor, Lower limb spasticity, Spastic gait,... OMIM:613206
Joubert Syndrome 24
Gait disturbance, Cerebellar hypoplasia, Ataxia, Dysmetria, Spasticity OMIM:616654
Spinocerebellar Ataxia 1
Abnormality of extrapyramidal motor function, Impaired proprioception, Spasticity, Dysdiadochokin... OMIM:164400
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Dyssynergia, Limb ataxia, Blepharospasm, Ataxia,... ORPHA:101
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... OMIM:260300
Spastic Paraplegia 26, Autosomal Recessive
Spastic paraplegia, Dystonia, Difficulty walking, Toe walking, Ataxia, Spastic gait, Lower limb s... OMIM:609195
Jaberi-Elahi Syndrome
Inability to walk, Dystonia, Tremor, Gait ataxia, Cerebellar atrophy, Protruding ear, Dysmetria, ... OMIM:617988
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Resting tremor, Bradykinesia OMIM:616710
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Action tremor, U... ORPHA:314978
X-Linked Charcot-Marie-Tooth Disease Type 6
Difficulty walking, Sensorineural hearing impairment, Impaired vibration sensation in the lower l... ORPHA:352675
Ataxia-Telangiectasia-Like Disorder
Dysdiadochokinesis, Dystonia, Gait ataxia, Chorea, Cerebellar vermis hypoplasia, Oculomotor aprax... ORPHA:251347
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination, Lower limb spasticity, Hand tremor, Progressive spastic paraplegia, Spastic... ORPHA:401830
Striatonigral Degeneration, Infantile
Dystonia, Failure to thrive, Optic atrophy, Choreoathetosis, Spasticity OMIM:271930
Parkinson Disease 19A, Juvenile-Onset
Tremor, Dystonia, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait, ... OMIM:615528
Autosomal Dominant Spastic Paraplegia Type 19
Difficulty walking, Limb ataxia, Female sexual dysfunction, Spastic gait, Male sexual dysfunction... ORPHA:100999
Huntington Disease-Like 1
Incoordination, Chorea, Unsteady gait, Dysmetria, Rigidity OMIM:603218
Spinocerebellar Ataxia 41
Unsteady gait, Cerebellar atrophy, Ataxia OMIM:616410
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Vertigo, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykin... ORPHA:101110
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Apraxia, Tremor, Neurodegeneration, Ataxia, Cerebellar atrophy, Premature ovarian insuf... OMIM:615889
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Postural tremor, Dystonia, Ataxia, Abnormal cerebellum morphology, Cerebellar atrophy, Dysmetria,... OMIM:607694
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Dilated fourth ventricl... ORPHA:1170
Leukodystrophy, Hypomyelinating, 13
Hypertonia, Ataxia, Failure to thrive, Clonus, Optic atrophy, Spasticity OMIM:616881
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Dystonia, Tremor, Limb dysmetria, Dense calcifications in the cerebellar dent... OMIM:213600
Spastic Paraplegia 20, Autosomal Recessive
Spastic paraplegia, Spastic paraparesis, Upper limb spasticity, Difficulty walking, Knee clonus, ... OMIM:275900
Spinocerebellar Ataxia 45
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:617769
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Apraxia, Lethargy, Chorea, Hypertonia, Hemiparesis, Ataxia, Paralysis, Myoclonus, Extra... ORPHA:71277
Spinocerebellar Ataxia 2
Dysdiadochokinesis, Postural tremor, Impaired vibratory sensation, Limb ataxia, Oculomotor apraxi... OMIM:183090
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysdiadochokinesis, Intention tremor, Babinski sign, Dysmetria, Clonus, Nonprogressive cerebellar... OMIM:301310
Cognitive Impairment With Or Without Cerebellar Ataxia
Dysmetria, Attention deficit hyperactivity disorder, Optic nerve hypoplasia, Ataxia OMIM:614306
Meniere Disease
Hearing impairment, Vertigo, Tinnitus OMIM:156000
Deafness, Autosomal Dominant 41
Progressive sensorineural hearing impairment, Hearing impairment, Tinnitus OMIM:608224
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Tremor, Gait ataxia, Hypertonia, Intention tremor, Ataxia, Cerebellar atrophy, Peripheral axonal ... OMIM:616505
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, H... OMIM:609260
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Spinocerebellar Ataxia Type 10
Dysdiadochokinesis, Kinetic tremor, Gait ataxia, Progressive cerebellar ataxia, Lower limb spasti... ORPHA:98761
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Steppage gait, Gait disturbance, Axonal degeneration OMIM:616155
Dystonia 16
Postural tremor, Abnormal pyramidal sign, Bradykinesia, Torticollis, Unsteady gait, Parkinsonism,... ORPHA:210571
Autosomal Recessive Spastic Paraplegia Type 43
Spastic paraparesis, Poor fine motor coordination, Spastic gait, Babinski sign, Spasticity ORPHA:320370
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Autosomal Recessive Spastic Paraplegia Type 75
Spastic paraplegia, Impaired vibratory sensation, Temporal optic disc pallor, Abnormal pyramidal ... ORPHA:459056
Tremor-Ataxia-Central Hypomyelination Syndrome
Postural tremor, Dystonia, Positive Romberg sign, Clumsiness, Autonomic bladder dysfunction, Inte... ORPHA:447896
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Incoordination, Chorea, Slurred speech, Poor fine motor coordination, Ga... ORPHA:157941
4H Leukodystrophy
Dysdiadochokinesis, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Progressive g... ORPHA:289494
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Dystonia, Tremor, Spastic ataxia, Limb ataxia, Difficulty walking, Hypertonia... ORPHA:251282
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Dystonia, Ataxia, Cerebellar atrophy, Dysmetria, Choreoathetosis, Spasticity OMIM:618088
Polymicrogyria, Bilateral Frontoparietal
Truncal ataxia, Hypoplasia of the pons, Hypertonia, Cerebellar hypoplasia, Ankle clonus, Dysmetri... OMIM:606854
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency
Dysdiadochokinesis, Gait ataxia, Limb dysmetria, Dysmetria ORPHA:324262
Mitochondrial Complex I Deficiency, Nuclear Type 31
Failure to thrive, Sensorineural hearing impairment, Myoclonus, Dysmetria OMIM:618251
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Paraparesis, Gait disturbance, Abnormal nerve conduction velocity, Ataxia, Hearing impair... ORPHA:99014
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Gait ataxia, Truncal ataxia, Limb ataxia, Abnormal pyramidal sign, Progressive cerebellar ataxia,... ORPHA:95434
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Autosomal Recessive Spastic Paraplegia Type 57
Spastic paraplegia, Inability to walk, Babinski sign, Abnormality of peripheral nerve conduction,... ORPHA:431329
Autosomal Dominant Spastic Paraplegia Type 8
Limb dysmetria, Difficulty walking, Limb ataxia, Upper limb spasticity, Lower limb spasticity, Sp... ORPHA:100989
Camos Syndrome
Aplasia/Hypoplasia of the cerebellum, Progressive extrapyramidal movement disorder, Ataxia, Optic... ORPHA:83472
Null Syndrome
Inability to walk, Peripheral demyelination, Difficulty walking, Progressive spastic quadriplegia... ORPHA:280234
Friedreich Ataxia
Inability to walk, Dystonia, Gait ataxia, Decreased motor nerve conduction velocity, Chorea, Limb... ORPHA:95
Autosomal Spastic Paraplegia Type 72
Impaired vibration sensation at ankles, Postural tremor, Spastic gait, Rigidity ORPHA:401849
Dystonia 23
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Torticollis, Myoclonus, Limb dystonia OMIM:614860
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Bradykinesia, Subcortical cerebral atrophy, Cerebral cortical atrophy, Falls, Par... ORPHA:306692
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Cerebellar atrophy, Abnormal cerebe... OMIM:615362
Spastic Ataxia 5, Autosomal Recessive
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Spastic ataxia, Oculomotor apraxia, Ataxia, Ce... OMIM:614487
Primary Dystonia, Dyt2 Type
Tremor, Torsion dystonia, Difficulty walking, Blepharospasm, Torticollis, Generalized dystonia, L... ORPHA:99657
Spinocerebellar Ataxia, X-Linked 4
Tremor, Abnormal pyramidal sign, Ataxia OMIM:301840
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Dystonia, Cogwheel rigidity, Gait ataxia, Incoordination, Pa... OMIM:128230
Alpha-Methylacyl-Coa Racemase Deficiency
Hypergonadotropic hypogonadism, Tremor, Ataxia, Spasticity OMIM:614307
Periventricular Nodular Heterotopia 8
Delayed myelination, Spasticity OMIM:618185
Dystonia 1, Torsion, Autosomal Dominant
Tremor, Torsion dystonia, Abnormal posturing, Hypertonia, Blepharospasm, Writer's cramp, Torticollis OMIM:128100
Episodic Kinesigenic Dyskinesia 2
Involuntary movements, Chorea, Paroxysmal dyskinesia OMIM:611031
Myopathy With Extrapyramidal Signs
Dystonia, Tremor, Abnormality of extrapyramidal motor function, Difficulty walking, Chorea, Ataxi... OMIM:615673
Deafness, Autosomal Dominant 2A
Hearing impairment, Tinnitus OMIM:600101
Deafness, Autosomal Dominant 58
Hearing impairment, Tinnitus OMIM:615654
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Stereotypy OMIM:606053
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Dystonia, Chorea, Gait disturbance, Craniofacial dystonia, Ataxia, Myoclonus, Involuntary movemen... OMIM:617282
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Abnorm... OMIM:601596
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Segmental peripheral demyelination, Decreased number of peripheral myelinated nerve fibers, Onion... OMIM:606482
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Gait ataxia, Truncal ataxia, Tremor, Axonal degeneration, Limb ataxia, Oculomotor aprax... OMIM:208920
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Lethargy, Paralysis OMIM:613710
Horner Syndrome, Congenital
Paralysis OMIM:143000
Neuroectodermal Melanolysosomal Disease
Tremor, Hypertonia, Cerebellar hypoplasia, Macular dystrophy, Ataxia, Abnormality of the optic ne... ORPHA:33445
Porphyria, Acute Hepatic
Paresthesia, Paralysis, Respiratory paralysis OMIM:612740
Deafness, Autosomal Dominant 50
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... OMIM:613074
Usher Syndrome, Type Iiib
Optic disc pallor, Hearing impairment, Truncal ataxia, Ataxia OMIM:614504
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis ORPHA:231445
Infantile-Onset Spinocerebellar Ataxia
Hearing impairment, Abnormality of the autonomic nervous system, Ataxia, Optic atrophy ORPHA:1186
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Fragile X Tremor/Ataxia Syndrome
Dysdiadochokinesis, Postural tremor, Gait ataxia, Poor fine motor coordination, Resting tremor, B... OMIM:300623
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Ataxia, Cerebellar atrophy, Sensorineural hearing impairment, Dysmetria, Broad-based gait OMIM:618098
Spinocerebellar Ataxia, Autosomal Recessive 4
Dystonia, Tremor, Gait ataxia, Ataxia, Myoclonus, Babinski sign, Fasciculations, Frequent falls, ... OMIM:607317
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Infertility, Hearing impairment, Abnormal sperm morphology OMIM:608653
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Gait ataxia, Slurred speech, Cerebellar atrophy, EEG with occipital epileptiform discharges, Opti... OMIM:619323
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Ataxia, Intention tremor OMIM:302500
Mental Retardation, Autosomal Recessive 4
Delayed myelination OMIM:611107
Atypical Pantothenate Kinase-Associated Neurodegeneration
Retinopathy, Tremor, Clumsiness, Chorea, Gait disturbance, Abnormal pyramidal sign, Oromandibular... ORPHA:216873
Pleoconial Myopathy With Salt Craving
Paralysis OMIM:262900
Autosomal Recessive Spastic Paraplegia Type 25
Spastic paraplegia, Paraparesis ORPHA:101005
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Dystonia 11, Myoclonic
Writer's cramp, Tremor, Myoclonus, Torticollis OMIM:159900
Spinocerebellar Ataxia, X-Linked 3
Unilateral vocal cord paralysis, Lethargy, Incoordination, Head titubation, Cerebellar atrophy, S... OMIM:301790
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Somatic sensory dysfunction, Progressive cerebellar ataxia, Myo... ORPHA:98763
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Basal lamina onion bulb formation, Peripheral hypomyel... OMIM:214400
Nescav Syndrome
Inability to walk, Cerebellar atrophy, Cerebellar vermis atrophy, Peripheral axonal neuropathy, B... OMIM:614255
Hypermanganesemia With Dystonia 2
Dystonia, Tremor, Gait disturbance, Cerebral atrophy, Bradykinesia, Ankle clonus, Cerebellar atro... OMIM:617013
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Fasciculations, Tremor, Distal sensory impairment OMIM:615048
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia, Cerebellar atrophy OMIM:141500
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Gait disturbance, Ataxia, Abnormal auditory evoked ... OMIM:125250
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Gait ataxia, Action tremor, Decreased number of periph... OMIM:180800
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Inability to walk, Decreased number of peripheral myelinated nerve fibers, Vocal cord paralysis, ... OMIM:615490
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral demyelination, Hypergonadotropic hypogonadi... OMIM:604168
Neuropathy, Hereditary Motor And Sensory, Russe Type
Difficulty walking, Paralysis OMIM:605285
Adult-Onset Autosomal Dominant Leukodystrophy
Aplasia/Hypoplasia of the cerebellum, Hypertonia, Tetraparesis, Head titubation, Spastic gait, Ab... ORPHA:99027
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Tremor, Dystonia, Akinesia, Speech apraxia, Gait disturbance, Bra... ORPHA:454887
Optic Atrophy With Demyelinating Disease Of Cns
Hemiparesis, Ataxia, Optic neuritis, Peripheral demyelination, Optic atrophy OMIM:165200
Dystonia 13, Torsion, Autosomal Dominant
Tremor, Torsion dystonia, Blepharospasm, Writer's cramp, Torticollis, Limb dystonia, Oromandibula... OMIM:607671
Ceroid Lipofuscinosis, Neuronal, 7
Pigmentary retinopathy, Ataxia, Cerebellar atrophy, EEG abnormality, Optic atrophy, Retinopathy OMIM:610951
Charcot-Marie-Tooth Disease, Type 4D
Gait disturbance, Axonal loss, Onion bulb formation, Hearing impairment, Abnormal auditory evoked... OMIM:601455
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Gait ataxia, Truncal ataxia, Head tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia,... ORPHA:352641
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Paresthesia, Motor axonal neuropathy, Abnormal pyramidal sign, Ataxia, Dysmetria, Intention tremo... ORPHA:48431
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Early-Onset X-Linked Optic Atrophy
Dysdiadochokinesis, Gait ataxia, Decreased nerve conduction velocity, Babinski sign, Intention tr... ORPHA:98890
Charcot-Marie-Tooth Disease, Dominant Intermediate G
Gait disturbance, Ataxia, Sensorineural hearing impairment, Waddling gait, Distal sensory impairm... OMIM:617882
Recessive Mitochondrial Ataxia Syndrome
Abnormality of central motor conduction, Positive Romberg sign, Limb dysmetria, Impaired vibrator... ORPHA:94125
Ataxia With Vitamin E Deficiency
Dysdiadochokinesis, Dystonia, Tremor, Abnormality of retinal pigmentation, Hypertonia, Abnormal p... ORPHA:96
Developmental And Epileptic Encephalopathy 92
Inability to walk, Dystonia, Lethargy, Difficulty walking, Ataxia, EEG abnormality, Myoclonus, Sp... OMIM:617829
Leukodystrophy, Hypomyelinating, 6
Dystonia, Tremor, Rigidity, Ataxia, Cerebellar atrophy, Hearing impairment, Optic atrophy, Choreo... OMIM:612438
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Cerebellar hypoplasia, Ataxia ORPHA:2246
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Infertility, Ataxia, Oligomenorrhea OMIM:212840
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Dystonia, Progressive hearing impairment, Ataxia OMIM:616113
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Cerebral atr... OMIM:300894
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoclonus, Hyperactivity, Spasti... OMIM:615924
Smith-Magenis syndrome
Stereotypy, Hyperactivity DECIPHER:8
Asperger Syndrome, X-Linked, Susceptibility To, 2
Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Stereotypy OMIM:608631
Adult Krabbe Disease
Hemiplegia, Hoffmann sign, Clumsiness, Prolonged brainstem auditory evoked potentials, Impaired t... ORPHA:206448
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Autosomal Recessive Ataxia, Beauce Type