Gene Summary

cadherin 23 (otocadherin)
4930542A03Rik,  USH1D,  mdfw,  ahl,  bob,  nmf112,  nmf181,  nmf252,  sals

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
increased circulating chloride level Cdh23tm2b(EUCOMM)Wtsi HOM Early adult 1.08×10-10
decreased circulating calcium level Cdh23tm2b(EUCOMM)Wtsi HOM   Early adult 6.04×10-05
decreased circulating glucose level Cdh23tm2b(EUCOMM)Wtsi HOM Early adult 7.18×10-05
trunk curl Cdh23tm2b(EUCOMM)Wtsi HOM Early adult 7.25×10-20
decreased fasting circulating glucose level Cdh23tm2b(EUCOMM)Wtsi HOM Early adult 2.79×10-15
increased bone mineral content Cdh23tm2b(EUCOMM)Wtsi HOM Early adult 2.09×10-07
impaired righting response Cdh23tm2b(EUCOMM)Wtsi HOM Early adult 2.69×10-14
decreased total body fat amount Cdh23tm2b(EUCOMM)Wtsi HOM Early adult 1.55×10-08
increased circulating sodium level Cdh23tm2b(EUCOMM)Wtsi HOM Early adult 4.43×10-06
decreased leukocyte cell number Cdh23tm2b(EUCOMM)Wtsi HOM Early adult 1.37×10-08
stereotypic behavior Cdh23tm2b(EUCOMM)Wtsi HOM Early adult 8.76×10-21
abnormal gait Cdh23tm2b(EUCOMM)Wtsi HOM Early adult 1.03×10-14
decreased body length Cdh23tm2b(EUCOMM)Wtsi HOM Early adult 4.26×10-07
increased lean body mass Cdh23tm2b(EUCOMM)Wtsi HOM Early adult 6.46×10-12
absent pinna reflex Cdh23tm2b(EUCOMM)Wtsi HOM Early adult 1.05×10-18
preweaning lethality, incomplete penetrance Cdh23tm2b(EUCOMM)Wtsi HOM   Early adult 0.00
increased mean corpuscular hemoglobin Cdh23tm2b(EUCOMM)Wtsi HOM Early adult 3.37×10-05

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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.

Legacy Phenotype Associated Images

View all 181 images

Human diseases caused by Cdh23 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 Cdh23 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Cdh23 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
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
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
Deafness, Autosomal Recessive 25
Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Auditory Neuropathy, Autosomal Dominant, 1
Absence of acoustic reflex, Abnormal auditory evoked potentials, Sensorineural hearing impairment... OMIM:609129
Deafness, Autosomal Recessive 30
Progressive sensorineural hearing impairment, Progressive hearing impairment OMIM:607101
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea, Abnormal head movements OMIM:616939
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
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Stereotypy OMIM:617787
Ataxia-Deafness-Retardation Syndrome
Progressive sensorineural hearing impairment, Ataxia OMIM:208850
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
Usher Syndrome, Type Id
Hearing impairment, Vestibular dysfunction OMIM:601067
Neuropathy, Hereditary Sensory, Atypical
Sensory ataxia, Babinski sign, Ataxia OMIM:256860
Episodic Ataxia Type 5
Vertigo, Truncal ataxia, Ataxia ORPHA:211067
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Action tremor, Craniofacial dystonia, Torticollis, J... ORPHA:98807
Cerebellar Ataxia And Neurosensory Deafness
Sensorineural hearing impairment, Ataxia OMIM:212850
Deafness, Autosomal Recessive 110
Sensorineural hearing impairment, Vestibular dysfunction OMIM:618094
Deafness, Autosomal Recessive 1A
Sensorineural hearing impairment, Vestibular dysfunction OMIM:220290
Spinocerebellar Ataxia Type 4
Impaired vibratory sensation, Impaired tactile sensation, Gait disturbance, Ataxia, Motor deterio... ORPHA:98765
Intellectual Developmental Disorder, X-Linked 72
Stereotypy, Hyperactivity OMIM:300271
Episodic Ataxia, Type 1
Episodic ataxia, Tremor, Incoordination, Vertigo, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
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
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Steppage gait, Hand tremor, Sensorineural hearing impairment OMIM:300905
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
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 Recessive 77
Bilateral sensorineural hearing impairment OMIM:613079
Deafness, Autosomal Dominant 3B
Adult onset sensorineural hearing impairment OMIM:612643
Deafness, Autosomal Recessive 63
Congenital sensorineural hearing impairment OMIM:611451
Deafness, Autosomal 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
Autosomal Recessive Spastic Paraplegia Type 27
Spastic paraplegia, Dysdiadochokinesis, Impaired vibration sensation at ankles, Sensorineural hea... ORPHA:101007
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 Recessive 31
Sensorineural hearing impairment OMIM:607084
Deafness, Autosomal Dominant 69
Sensorineural hearing impairment OMIM:616697
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Dominant 27
Sensorineural hearing impairment OMIM:612431
Deafness, Autosomal Recessive 98
Sensorineural hearing impairment OMIM:614861
Deafness, Autosomal Recessive 116
Sensorineural hearing impairment OMIM:619093
Deafness, Autosomal Recessive 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
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Optic atrophy, Babinski sign OMIM:311050
Angelman syndrome (Type 1)
Truncal ataxia, EEG abnormality DECIPHER:4
Angelman syndrome (Type 2)
Truncal ataxia, EEG abnormality DECIPHER:54
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Ataxia, Optic atrophy OMIM:136600
X-Linked Complicated Spastic Paraplegia Type 1
Spastic paraplegia, Ataxia, Upper motor neuron dysfunction, Cognitive impairment, Mental deterior... ORPHA:306617
Posterior Column Ataxia
Impaired vibratory sensation, Ataxia, Impaired proprioception OMIM:176250
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Attention deficit hyperactivity disorder, Speech apraxia OMIM:245570
Cataract-Ataxia-Deafness-Retardation Syndrome
Adult onset sensorineural hearing impairment, Ataxia, Distal sensory impairment OMIM:212710
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration, Ataxia OMIM:271250
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Abasia, Ataxia OMIM:209100
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration, Spastic tetraplegia OMIM:258700
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
Autosomal Recessive Spastic Paraplegia Type 24
Spastic paraplegia, Sensorineural hearing impairment, Clonus, Tip-toe gait, Scissor gait, Spasticity ORPHA:101004
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration, Ataxia ORPHA:3233
Developmental And Epileptic Encephalopathy 56
Poor coordination, Ataxia, EEG abnormality, Anxiety, Attention deficit hyperactivity disorder, Br... OMIM:617665
Deafness, Autosomal Dominant 9
Vertigo, Cochlear degeneration, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Dementia, Difficulty walking, Abnormal pyramidal sign, Progressive cerebellar at... ORPHA:85292
Progressive Myoclonic Epilepsy Type 1
Dementia, Limb ataxia, Ataxia, EEG with polyspike wave complexes, Myoclonus, Intention tremor, Mo... ORPHA:308
Autism, Susceptibility To, X-Linked 4
Attention deficit hyperactivity disorder, Motor tics OMIM:300830
Myoclonus, Cerebellar Ataxia, And Deafness
Hearing impairment, Myoclonus, Ataxia OMIM:159800
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Stereotypy OMIM:606053
Benign Paroxysmal Torticollis Of Infancy
Vertigo, Apathy, Ataxia, Torticollis, Irritability, Vomiting, Abnormal head movements ORPHA:71518
Spinocerebellar Ataxia Type 31
Hearing impairment, Tremor, Gait ataxia, Spasticity ORPHA:217012
Smith-Magenis syndrome
Stereotypy, Hyperactivity DECIPHER:8
Ataxia, Deafness, And Cardiomyopathy
Sensorineural hearing impairment, Ataxia OMIM:208750
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... OMIM:614561
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
EEG abnormality, Stereotypy OMIM:209850
Autism, Susceptibility To, X-Linked 3
EEG abnormality, Stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 2
EEG abnormality, Stereotypy OMIM:300495
Autism, Susceptibility To, 8
EEG abnormality, Stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
EEG abnormality, Stereotypy OMIM:300425
Chromosome 15Q11-Q13 Duplication Syndrome
EEG abnormality, Stereotypy OMIM:608636
Spinocerebellar Ataxia 37
Tremor, Dysphagia, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Neuronopathy, Distal Hereditary Motor, Type Viia
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Dystonia, Tremor, Spastic ataxia, Limb ataxia, Difficulty walking, Hypertonia... ORPHA:251282
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Low-frequency hearing loss, Sensorineural hearing impairment, Progressive hearing impairment OMIM:124900
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
N-Acetylaspartate Deficiency
Self-mutilation, Unsteady gait, Truncal ataxia, Stereotypy OMIM:614063
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Spastic Ataxia 4, Autosomal Recessive
Spastic paraparesis, Spastic ataxia, Emotional lability, Babinski sign, Optic atrophy OMIM:613672
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Rigidity, Frequent falls, Inertia, Violent behavior, Chorea, Gait disturbance... ORPHA:216873
Myoclonus, Familial, 1
Frequent falls, Falls, Myoclonus, Ataxia OMIM:614937
Spinocerebellar Ataxia Type 23
Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Impaired distal vibration sensation, Dys... ORPHA:101108
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Spinocerebellar Ataxia 31
Limb ataxia, Gait ataxia, Sensorineural hearing impairment, Ataxia OMIM:117210
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Gait disturbance, Tremor, Babinski sign OMIM:300660
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Intention tremor, Progressive cerebellar ataxia, Myoclonus, Bilateral se... ORPHA:2589
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Spastic gait, Babinski sign, Hand tremor, Progressive spastic paraplegia ORPHA:401840
Gilles De La Tourette Syndrome
Phonic tics, Attention deficit hyperactivity disorder, Motor tics OMIM:137580
Episodic Ataxia, Type 8
Episodic ataxia, Slurred speech, Ataxia, Intention tremor OMIM:616055
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Rigidity OMIM:617018
Episodic Kinesigenic Dyskinesia 2
Involuntary movements, Chorea, Paroxysmal dyskinesia, Dystonia OMIM:611031
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls ORPHA:494526
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Parkinson Disease 22, Autosomal Dominant
Tremor, Gait disturbance, Constipation, Resting tremor, Bradykinesia OMIM:616710
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Dystonia 11, Myoclonic
Tremor, Agoraphobia, Writer's cramp, Torticollis, Myoclonus, Anxiety OMIM:159900
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Dystonia, Tremor, Myoclonus OMIM:611092
Cyanide-Induced Parkinsonism-Dystonia
Apathy, Resting tremor, Bradykinesia, Falls, Parkinsonism, Short stepped shuffling gait, Rigidity... ORPHA:306692
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Cerebellar Ataxia, Cayman Type
Gait ataxia, Truncal ataxia, Nonprogressive cerebellar ataxia, Intention tremor, Broad-based gait ORPHA:94122
Meniere Disease
Hearing impairment, Vertigo, Tinnitus OMIM:156000
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Unsteady gait, Frequent falls OMIM:616921
Cerebellar Ataxia And Albinism
Head tremor, Ataxia OMIM:258300
Deafness, Autosomal Dominant 41
Progressive sensorineural hearing impairment, Hearing impairment, Tinnitus OMIM:608224
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Spastic tetraplegia, Babinski sign, Hyperactivity OMIM:616657
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Progressive neurologic deterioration, Dystonia, Abnormal pyramidal sign, Ataxia, Hearing impairme... OMIM:619196
Paralysis Agitans, Juvenile, Of Hunt
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Deafness, Autosomal Recessive 109
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Gait disturbance, ... ORPHA:363710
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Abnormal motor evoked potentials, Ataxia, Somatic sensory dysfunction, Lower ... ORPHA:320401
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Anxiety, Upper motor neuron dysfunctio... ORPHA:401901
Epilepsy, Familial Adult Myoclonic, 1
Tremor, EEG with photoparoxysmal response, Giant somatosensory evoked potentials, Enhancement of ... OMIM:601068
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Deafness, Congenital, And Familial Myoclonic Epilepsy
Hearing impairment, Myoclonus OMIM:220300
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Spinocerebellar Ataxia 45
Limb ataxia, Gait ataxia, Ataxia OMIM:617769
Primary Dystonia, Dyt27 Type
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Fo... ORPHA:464440
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Insulin resistance, Lipodystrophy, Hypertriglyceridemia, Sple... OMIM:612526
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy, Dis... OMIM:601382
Fraxe Intellectual Disability
Clumsiness, Aggressive behavior, Prominent ear helix, Recurrent hand flapping, Hyperactivity, Ste... ORPHA:100973
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Difficulty walking, Irritability, Stereotypy, Spasticity OMIM:617393
Spinocerebellar Ataxia Type 38
Difficulty walking, Tremor, Gait ataxia ORPHA:423296
Spinocerebellar Ataxia 29
Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Intention tremor, Cognitive impairment, Broad... OMIM:117360
Deafness, Autosomal Dominant 2A
Hearing impairment, Tinnitus OMIM:600101
Deafness, Autosomal Dominant 58
Hearing impairment, Tinnitus OMIM:615654
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Chorea... OMIM:314250
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Spasticity OMIM:615493
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Vertigo, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykin... ORPHA:101110
Deafness, Autosomal Dominant 50
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... OMIM:613074
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia, Anxiety OMIM:141500
Baker-Gordon Syndrome
Inability to walk, Dystonia, Self-injurious behavior, Hyperkinetic movements, Gastroesophageal re... OMIM:618218
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Aggressive behavior, Chorea, Paroxysmal dyskinesia, Poor coordination, Ataxia, Falls, S... OMIM:619150
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Mental Retardation, Autosomal Recessive 39
Aggressive behavior, Anteverted ears, Macrotia, Stereotypy, Hyperactivity OMIM:615541
Polymyoclonus, Infantile
Irritability, Myoclonus, Ataxia OMIM:263550
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Sensorineural hearing impair... OMIM:270500
Mental Retardation, Autosomal Recessive 58
Aggressive behavior, Self-injurious behavior, Spastic diplegia, Stereotypy, Choreoathetosis OMIM:617270
Mohr-Tranebjaerg Syndrome
Inability to walk, Tremor, Apraxia, Dystonia, Vestibular dysfunction, Attention deficit hyperacti... ORPHA:52368
Intellectual Developmental Disorder, X-Linked 104
Tremor, Poor eye contact, Abnormality of the pinna, Ataxia, Hyperactivity, Optic atrophy, Spasticity OMIM:300983
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Dystonia 27
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia OMIM:616411
Behavioral Variant Of Frontotemporal Dementia
Emotional blunting, Aggressive behavior, Abnormality of extrapyramidal motor function, Apathy, Ga... ORPHA:275864
Dystonia 16
Postural tremor, Dysphagia, Abnormal pyramidal sign, Bradykinesia, Unsteady gait, Torticollis, Pa... ORPHA:210571
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, Abnormal social behavior, Hyperactivity ORPHA:436151
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Ravine Syndrome
Abnormal auditory evoked potentials, Ataxia, Spasticity ORPHA:99852
Pyruvate Carboxylase Deficiency
Tremor, Dystonia, Hyperammonemia, Hypernatremia, Hypoglutaminemia, Abnormal pyramidal sign, Incre... ORPHA:3008
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Progressive sensorineural hearing impairment, Slowed slurred speech, Cochlear degeneration, Ataxia OMIM:172500
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Dysmetria OMIM:617917
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Tremor, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait, ... OMIM:615528
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia OMIM:617831
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Dystonia, Chorea, Self-injurious behavior, Stereotypical hand wringing OMIM:618760
Parkinson Disease 2, Autosomal Recessive Juvenile
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:600116
Hyperprolinemia, Type I
Stereotypy, Aggressive behavior, Ataxia, Hyperactivity OMIM:239500
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Emotional lability, Myoclonus, Babi... OMIM:615362
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Stereotypy, Attention deficit hyperactivity disorder, Ataxia OMIM:618709
Immunodeficiency 8
Hyperactivity OMIM:615401
Parkinson Disease 15, Autosomal Recessive Early-Onset
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... OMIM:260300
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia OMIM:616410
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Dementia, EEG with photoparoxysmal response, Blepharospasm, Ataxia, Giant somatosensory e... OMIM:607876
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Episodic Ataxia Type 4
Vertigo, Incoordination, Ataxia, Abnormal head movements, Frequent falls ORPHA:79136
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with spike-wave complexes, Dementia, Ataxia, EEG with polyspike wave complexes, Interictal ep... OMIM:254800
Paroxysmal Exertion-Induced Dyskinesia
Torsion dystonia, Dystonia, Aggressive behavior, Paresthesia, Chorea, Paroxysmal dyskinesia, Atax... ORPHA:98811
Developmental And Epileptic Encephalopathy 58
Inability to walk, Spastic diplegia, Stereotypy OMIM:617830
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Spasticity ORPHA:356996
Adult Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Dementia, Abnormality of extrapyramidal motor function, Abnormal pyramidal si... ORPHA:79262
Spastic Paraparesis And Deafness
Hearing impairment, Tremor, Spastic paraparesis OMIM:312910
Epilepsy, Progressive Myoclonic 7
Tremor, Mental deterioration, Myoclonus, Ataxia OMIM:616187
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Aggressive behavior, Macrotia, Low-set ears, Posteriorly rotated ears, Anxiety, Ster... OMIM:609425
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Stereotypy, Tremor, Ataxia OMIM:617862
Spinocerebellar Ataxia, Autosomal Recessive 25
Cognitive impairment, Dysmetria, Truncal ataxia, Ataxia OMIM:617584
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity, Rigidity OMIM:618090
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Decreased nerve conduction velocity, Fasciculations, Rigidity, Spasticity OMIM:183050
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Tremor, Dysphagia, Hypertonia, Irritability, Myoclonus, Choreoathetosis OMIM:261630
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Epilepsy, Progressive Myoclonic, 11
Ataxia, Giant somatosensory evoked potentials, Myoclonus, Intention tremor, Rigidity OMIM:618876
Mental Retardation, Autosomal Recessive 48
Inability to walk, Self-mutilation, Kinetic tremor, Aggressive behavior, Macrotia, Waddling gait OMIM:616269
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Huntington Disease-Like 2
Dystonia, Chorea, Apathy, Bradykinesia, Action tremor, Irritability, Anxiety, Rigidity OMIM:606438
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria OMIM:616291
Chorea, Benign Hereditary
Chorea, Gait disturbance, Anxiety OMIM:118700
Spinocerebellar Ataxia, Autosomal Recessive 17
Unsteady gait, Tremor, Truncal ataxia, Dysmetria OMIM:616127
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Dystonia, Aggressive behavior, Apathy, Gait disturbance, Myoclonus, Stereotypy, Babinski sign, Ri... OMIM:600795
Dystonia 23
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Torticollis, Myoclonus, Limb dystonia OMIM:614860
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Dysphagia, Resting tremor, Craniofacial dystonia, Bradykinesia, Emotional lability, ... ORPHA:71517
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Ataxia, Myoclonus, Dementia OMIM:208700
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoclonus, Hyperactivity, Spasti... OMIM:615924
Glut1 Deficiency Syndrome 2
Dystonia, Tremor, Ataxia, Irritability, EEG abnormality, Cognitive impairment, Choreoathetosis OMIM:612126
Developmental And Epileptic Encephalopathy 92
Inability to walk, Dystonia, Lethargy, Difficulty walking, Ataxia, EEG abnormality, Myoclonus, Sp... OMIM:617829
Pseudohypoparathyroidism Type 2
Hypocalcemia, Paresthesia, Hypocalcemic tetany, Laryngeal dystonia, Myoclonic spasms, Hyperphosph... ORPHA:94090
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Rigidity, Parkinsonism with favorable response to dopaminergic med... ORPHA:240103
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia, Flexion contracture, Falls OMIM:615883
Non-Syndromic Genetic Deafness
Progressive sensorineural hearing impairment, High-frequency hearing impairment, Low-frequency se... ORPHA:87884
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Brunner Syndrome
Kinetic tremor, Aggressive behavior, Self-injurious behavior, Low frustration tolerance, Diarrhea OMIM:300615
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Fasciculations, Tremor OMIM:615048
Infantile-Onset Spinocerebellar Ataxia
Hearing impairment, Abnormality of the autonomic nervous system, Ataxia, Optic atrophy ORPHA:1186
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Dementia, Gait disturbance, Poor fine motor coordination, Abnorm... ORPHA:98762
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... ORPHA:276193
Pendred Syndrome
Cochlear malformation, Vestibular dysfunction, Congenital sensorineural hearing impairment OMIM:274600
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Clumsiness, Spastic diplegia, Emotional lability,... ORPHA:206443
Spinocerebellar Ataxia, Autosomal Recessive 4
Dystonia, Gait ataxia, Tremor, Ataxia, Myoclonus, Babinski sign, Fasciculations, Frequent falls, ... OMIM:607317
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Unsteady gait, Babinski sign, Spasticity OMIM:615768
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Spinocerebellar Ataxia, Autosomal Recessive 22
Truncal ataxia, Abnormal pyramidal sign, Ataxia, Unsteady gait, Lower limb spasticity, Dysmetria,... OMIM:616948
Tremor OMIM:231950
Usher Syndrome, Type Iiib
Optic disc pallor, Hearing impairment, Truncal ataxia, Ataxia OMIM:614504
Hypermanganesemia With Dystonia 2
Dystonia, Tremor, Gait disturbance, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Orom... OMIM:617013
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Progressive extrapyramidal movement disorder, Myoclonus, Ataxia OMIM:612736
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Dystonia, Chorea, Gait disturbance, Craniofacial dystonia, Ataxia, Myoclonus, Involuntary movemen... OMIM:617282
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Lethargy, Hemiparesis, Ataxia, Paralysis, EEG abnormality, Myoclonus, Babins... OMIM:606777
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism with favorable response to dopaminergic medi... OMIM:607688
X-Linked Charcot-Marie-Tooth Disease Type 1
Hearing impairment, Gait disturbance, Tremor, Ataxia ORPHA:101075
Dentatorubral-Pallidoluysian Atrophy
Dementia, Chorea, Abnormal pyramidal sign, Ataxia, Myoclonus, Choreoathetosis OMIM:125370
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Ataxia, Anxiety, Dysmetria, Myoclonus, Mental deterioration, Attention defici... OMIM:619191
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia, Paresthesia OMIM:615361
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Progressive cerebellar ataxia, Pa... OMIM:604326
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Gait ataxia, Cochlear degeneration, Head tremor, Difficulty walking, Progressive cerebellar ataxi... ORPHA:95433
Spinocerebellar Ataxia 35
Incoordination, Difficulty walking, Ataxia, Torticollis, Dysmetria, Intention tremor, Babinski sign OMIM:613908
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Apraxia, Tremor, Ataxia, Spasticity OMIM:615889
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Apathy, Bradyk... ORPHA:240085
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Gait disturbance, Ataxia, Abnormal auditory evoked ... OMIM:125250
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Spinocerebellar Ataxia 48
Dystonia, Gait ataxia, Tremor, Chorea, Dysphagia, Ataxia, Parkinsonism, Irritability, Dysmetria, ... OMIM:618093
Cataract-Ataxia-Deafness Syndrome
Adult onset sensorineural hearing impairment, Tremor, Hypertonia, Ataxia, Sensorineural hearing i... ORPHA:1368
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Resting tremor, Bradykinesia, Parkinsonism, Anxiety, Rigidity OMIM:605909
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia, Ataxia OMIM:616949
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor, Broad-based ... OMIM:616053
Spinocerebellar Ataxia Type 40
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor,... ORPHA:423275
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Dystonia, Gait ataxia, Cogwheel rigidity, Incoordination, Pa... OMIM:128230
Parkinson Disease 14, Autosomal Recessive
Dystonia, Apraxia, Clumsiness, Tremor, Aggressive behavior, Bradykinesia, Parkinsonism, Rigidity,... OMIM:612953
Optic Atrophy 3, Autosomal Dominant
Hearing impairment, Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Autosomal Recessive Spastic Paraplegia Type 67
Difficulty walking, Limb tremor, Lower limb spasticity, Spastic gait, Babinski sign, Progressive ... ORPHA:401820
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Myopathy, Spheroid Body
Dysphagia, Tremor, Waddling gait, Broad-based gait OMIM:182920
Neuroleptic Malignant Syndrome
Hypocalcemia, Tremor, Thrombocytosis, Extrapyramidal muscular rigidity, Leukocytosis, Chorea, Hyp... ORPHA:94093
Ocular Motor Apraxia
Jerky head movements, Oculomotor apraxia OMIM:257550
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:314632
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia OMIM:300928
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Chorea, Abnormal pyramidal sign, Ataxia, Bradykinesia, Parkinsonism, Dysmetria, Memory ... OMIM:618317
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Dystonia, Tremor, Akinesia, Speech apraxia, Gait disturbance, Bra... ORPHA:454887
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Action tremor, Unsteady gait, Intention tremor, Frequent falls, Spast... ORPHA:314978
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Involuntary movements, Dementia, Incoordination, Chorea, Gait disturbanc... ORPHA:157941
Chorea, Benign Familial
Chorea OMIM:215450
Progressive Familial Intrahepatic Cholestasis
Reduced bone mineral density, Failure to thrive, Hypocalcemia, Splenomegaly ORPHA:172
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Dystonia, Tremor, Bradykinesia, Ankle clonus, Progressive inability to walk, Parkinsonism, Babins... ORPHA:521406
Huntington Disease-Like 3
Dystonia, Extrapyramidal muscular rigidity, Abnormality of extrapyramidal motor function, Progres... ORPHA:157946
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Impaired social interactions, Hyperkinetic movements, Macrotia ORPHA:397933
Pontocerebellar Hypoplasia, Type 11
Inability to walk, Macrotia, Difficulty walking, Limb ataxia, Dysphagia, Poor coordination, Spast... OMIM:617695
Fragile X Syndrome
Hyperactivity, Poor eye contact, Abnormal head movements, Macrotia OMIM:300624
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Self-injurious behavior, Low-set ears, Stereotypy, Hyperactivity, Spas... OMIM:618718
X-Linked Charcot-Marie-Tooth Disease Type 4
Hearing impairment, Gait disturbance, Tremor, Ataxia ORPHA:101078
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:608747
Mental Retardation With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Speech apraxia, Self-injurious behavior, Anxiety, Stereotypy, Attention defi... OMIM:613670
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal aggressive, impulsive or violent behavior, Tremor, Aggressive behavior, Resting tremor, ... ORPHA:3077
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Dysmetria, Babinski sign, Progressive spasticity OMIM:210000
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Aggressive behavior, Progressive extrapyramidal movement disorder, Abnormality of extra... ORPHA:382
2P21 Microdeletion Syndrome
Hypocalcemia, Failure to thrive, Hypoglycemia ORPHA:163693
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Choreoathetosis, Tremor, Dysphagia, Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Irr... OMIM:261640
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Dystonia, Gait ataxia, Tremor, Limb ataxia, Gait disturbance, Abnormal pyrami... OMIM:617145
Dopa-Responsive Dystonia
Dystonia, Abnormality of extrapyramidal motor function, Agoraphobia, Emotional lability, Panic at... ORPHA:255
Usher Syndrome Type 3
Sensorineural hearing impairment, Abnormal cochlea morphology, Ataxia, Vestibular hypofunction ORPHA:231183
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Tremor, Aggressive behavior, Oculomotor apraxia, Ataxia, Hyperactivity, Choreoathetosis... OMIM:612716
Primary Dystonia, Dyt2 Type
Torsion dystonia, Tremor, Difficulty walking, Blepharospasm, Torticollis, Generalized dystonia, L... ORPHA:99657
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Aicardi-Goutieres Syndrome 6
Dystonia, Loss of ability to walk, Tremor, Rigidity OMIM:615010
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypertonia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Cerebr... ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypertonia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Cerebr... ORPHA:529799
Spinocerebellar Ataxia Type 27
Tremor, Gait ataxia, Truncal ataxia, Aggressive behavior, Akinesia, Difficulty walking, Limb atax... ORPHA:98764
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set, posteriorly rotated ears, Hypertonia, Spastic tetraparesis, Abnormal pyramidal sign, Ata... OMIM:618598
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Babinski sign, Dysmetria OMIM:607458
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Difficulty walking, Progressive gait ataxia, Spasticity, Progressive cerebellar ataxi... ORPHA:284332
Tremor, Hereditary Essential, 5
Postural tremor, Kinetic tremor, Tongue tremor, Intention tremor OMIM:616736
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Clumsiness, Ataxia, Motor deterioration, Abnormal nervous system electrophysi... OMIM:256731
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Dystonia, Apraxia, Tremor, Spastic paraparesis, Incoordination, Aggressive be... OMIM:615157
Spinocerebellar Ataxia, Autosomal Recessive 10
Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Intention tremor, Fasciculations OMIM:613728
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Dystonia, Gait ataxia, Chorea, Self-injurious behavior, Stereotypy, Stereotypi... OMIM:618917
Urocanase Deficiency
Tremor, Aggressive behavior, Ataxia OMIM:276880
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypertonia, Hyponatremia, Ataxia, Myoclonus, Failure to thrive, Spasticity OMIM:618426
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Tremor, Clumsiness, Difficulty walking, Dysphagia, Eyelid myoclonus, Sensorine... ORPHA:2590
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Poor fine motor coordination, Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Deafness, X-Linked 2
Progressive sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Mi... OMIM:304400
Developmental And Epileptic Encephalopathy 30
Stereotypy, Hypsarrhythmia OMIM:616341
3-Methylglutaconic Aciduria, Type Iii
Abnormality of extrapyramidal motor function, Chorea, Ataxia, Babinski sign, Cognitive impairment... OMIM:258501
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Chronic constipation, Anxiety, Stereotypy, Attention deficit hyperactivity disorder OMIM:618906
Huntington Disease-Like 1
Incoordination, Aggressive behavior, Dementia, Chorea, Unsteady gait, Anxiety, Dysmetria, Rigidity OMIM:603218
Spinocerebellar Ataxia, X-Linked 4
Tremor, Abnormal pyramidal sign, Ataxia, Dementia OMIM:301840
Parkinson Disease 17
Tremor, Akinesia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614203
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Limb ataxia, Ataxia, Unsteady gait, Dysmetria, Spasticity OMIM:213200
Pick Disease Of Brain
Emotional blunting, Apathy, Diminished motivation, Frontotemporal dementia, Irritability, Stereotypy OMIM:172700
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Gait disturbance, Bradykinesia, Action tremor, Parkinsonism, Babinski sign OMIM:300423
Charcot-Marie-Tooth Disease, Type 4D
Gait disturbance, Hearing impairment, Abnormal auditory evoked potentials, Distal sensory impairm... OMIM:601455
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Tremor, Dysphagia, Gait disturbance, Fasciculations, Tongue fasciculations ORPHA:276435
Usher Syndrome Type 1
Sensorineural hearing impairment, Abnormal cochlea morphology, Ataxia, Vestibular hypofunction ORPHA:231169
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Ataxia, Intention tremor OMIM:302500
Adult Krabbe Disease
Hemiplegia, Progressive neurologic deterioration, Hoffmann sign, Clumsiness, Prolonged brainstem ... ORPHA:206448
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, ... OMIM:606324
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Cochlear aplasia, Morphological abnormality of the semicircul... OMIM:619274
Parkinsonism-Dystonia, Infantile, 1
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Constipation, Bradyk... OMIM:613135
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Tremor, Spastic paraparesis, Aggressive behavior, Abnormality of extrapyramidal motor f... OMIM:300894
Spinocerebellar Ataxia Type 28
Kinetic tremor, Dystonia, Gait ataxia, Head tremor, Limb ataxia, Parkinsonism, Limb dystonia, Bab... ORPHA:101109
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Lethargy, Gait ataxia, Abnormality of extrapyramidal motor function, Constipatio... ORPHA:101150
Spinocerebellar Ataxia 44
Dysdiadochokinesis, Gait ataxia, Ataxia, Dysmetria, Frequent falls, Tinnitus, Spasticity OMIM:617691
Deafness, Autosomal Dominant 64
Sensorineural hearing impairment, Tinnitus OMIM:614152
Deafness, Autosomal Dominant 67
Sensorineural hearing impairment, Tinnitus OMIM:616340
Deafness, Autosomal Dominant 36
Sensorineural hearing impairment, Tinnitus OMIM:606705
Deafness, Autosomal Dominant 72
Sensorineural hearing impairment, Tinnitus OMIM:617606
Deafness, Y-Linked 1
Sensorineural hearing impairment, Tinnitus OMIM:400043
Deafness, Autosomal Dominant 43
Sensorineural hearing impairment, Tinnitus OMIM:608394
Deafness, Autosomal Dominant 33
Sensorineural hearing impairment, Tinnitus OMIM:614211
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Dysphagia, Apathy, Emotional lability, Babinski sign, Stereotypy, Spasticity OMIM:612069
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting tremor, Brad... ORPHA:391411
Branchiootic Syndrome 1
Hypoplasia of the cochlea, Cochlear malformation, Low-set ears, Cupped ear, Sensorineural hearing... OMIM:602588
Spinocerebellar Ataxia, Autosomal Recessive 6
Gait ataxia, Clumsiness, Ataxia, Dysmetria, Intention tremor, Spasticity OMIM:608029
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Dystonia, Gait ataxia, Apraxia, Tremor, Gait disturbance,... ORPHA:3095
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Recurrent hypo... ORPHA:79299
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Hypertonia, Bradykinesia, Limb hypertonia, Oculogyric crisis, Parkinsonism, Attention d... OMIM:617384
Spinocerebellar Ataxia Type 36
Vertigo, Truncal ataxia, Difficulty walking, Limb ataxia, Head tremor, Dysphagia, Ataxia, Bowel i... ORPHA:276198
Refractory Celiac Disease
Osteoporosis, Hypocalcemia, Hypoproteinemia, Hypophosphatemia, Iron deficiency anemia, Microcytic... ORPHA:398063
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness