Gene: Myo7a MGI:104510

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Gene Summary

myosin VIIA
Myo7,  USH1B,  nmf371,  polka,  Hdb

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
abnormal behavior Myo7aHdb HOM   Early adult 2.55×10-05
persistence of hyaloid vascular system Myo7atm1a(EUCOMM)Wtsi HOM Early adult 2.21×10-05
increased circulating sodium level Myo7aHdb HOM   Early adult 5.28×10-05
increased circulating sodium level Myo7atm1a(EUCOMM)Wtsi HOM   Early adult 8.21×10-06
trunk curl Myo7atm1a(EUCOMM)Wtsi HOM Early adult 7.01×10-20
decreased body weight Myo7aHdb HOM Early adult 4.31×10-34
impaired righting response Myo7atm1a(EUCOMM)Wtsi HOM Early adult 1.38×10-08
abnormal locomotor activation Myo7aHdb HOM Early adult 5.49×10-07
increased blood urea nitrogen level Myo7atm1a(EUCOMM)Wtsi HOM Early adult 9.22×10-05
stereotypic behavior Myo7atm1a(EUCOMM)Wtsi HOM Early adult 1.56×10-16
absent pinna reflex Myo7atm1a(EUCOMM)Wtsi HOM Early adult 1.05×10-18

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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.


XRay Images Forepaw

12 Images


XRay Images Whole Body Dorso Ventral

15 Images


XRay Images Skull Lateral Orientation

14 Images


XRay Images Skull Dorso Ventral Orientation

13 Images


XRay Images Whole Body Lateral Orientation

14 Images

Legacy Phenotype Associated Images

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Human diseases caused by Myo7a 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 predicted to be associated to Myo7a by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Deafness, Autosomal Dominant 73
Hearing impairment OMIM:617663
Deafness, Aminoglycoside-Induced
Aminoglycoside-induced hearing loss OMIM:580000
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Recessive 89
Hearing impairment OMIM:613916
Deafness, Autosomal Dominant 17
High-frequency hearing impairment OMIM:603622
Deafness, Autosomal Dominant 74
Hearing impairment OMIM:618140
Deafness, Autosomal Recessive 74
Hearing impairment OMIM:613718
Deafness, Autosomal Dominant 7
High-frequency hearing impairment OMIM:601412
Deafness, Autosomal Dominant 2B
High-frequency hearing impairment OMIM:612644
Deafness, Autosomal Recessive 33
Hearing impairment OMIM:607239
Deafness, Autosomal Dominant 56
Hearing impairment OMIM:615629
Deafness, Autosomal Recessive 91
Progressive hearing impairment OMIM:613453
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 Dominant 65
Progressive hearing impairment OMIM:616044
Deafness, Autosomal Recessive 112
Progressive hearing impairment OMIM:618257
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 Recessive 102
Profound hearing impairment OMIM:615974
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 Dominant 18
Progressive hearing impairment OMIM:606012
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
Charcot-Marie-Tooth Disease, Axonal, Type 2V
Sensory ataxia, Paresthesia, Distal sensory impairment OMIM:616491
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Deafness, Autosomal Recessive 25
Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Abnormal head movements, Chorea OMIM:616939
Deafness, Autosomal Recessive 30
Progressive sensorineural hearing impairment, Progressive hearing impairment OMIM:607101
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Stereotypy OMIM:617787
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
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Deafness, Autosomal Recessive 109
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hearing impairment OMIM:615266
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
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Involuntary movements, Craniofacial dystonia, Action... ORPHA:98807
Facial Paresis, Hereditary Congenital, 2
Hearing impairment OMIM:604185
Keratoderma, Palmoplantar, With Deafness
Hearing impairment OMIM:148350
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Auditory Neuropathy, Autosomal Dominant, 1
Absence of acoustic reflex, Abnormal auditory evoked potentials, Sensorineural hearing impairment... OMIM:609129
Deafness, Autosomal Recessive 110
Sensorineural hearing impairment, Vestibular dysfunction OMIM:618094
Deafness, Autosomal Recessive 1A
Sensorineural hearing impairment, Vestibular dysfunction OMIM:220290
Intellectual Developmental Disorder, X-Linked 72
Stereotypy, Hyperactivity OMIM:300271
Autism, Susceptibility To, X-Linked 3
EEG abnormality, Lack of peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:300496
Autism, Susceptibility To, X-Linked 2
EEG abnormality, Lack of peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:300495
Autism, Susceptibility To, 8
Impaired ability to form peer relationships, EEG abnormality, Stereotypy, Impaired use of nonverb... OMIM:607373
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, EEG abnormality, Stereotypy, Impaired use of nonverb... OMIM:608636
Autism, Susceptibility To, X-Linked 1
EEG abnormality, Lack of peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:300425
Impaired ability to form peer relationships, EEG abnormality, Stereotypy, Impaired use of nonverb... OMIM:209850
Deafness, Autosomal Recessive 94
Vestibular dysfunction, Bilateral sensorineural hearing impairment OMIM:618434
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:608638
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:300494
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:300497
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:608631
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 Recessive 77
Bilateral sensorineural hearing impairment OMIM:613079
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 111
Progressive sensorineural hearing impairment OMIM:618145
Deafness, Autosomal Recessive 21
Sensorineural hearing impairment OMIM:603629
Deafness, Autosomal Dominant 20
Progressive sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:604717
Deafness, Autosomal Recessive 66
Sensorineural hearing impairment OMIM:610212
Deafness, Autosomal Recessive 5
Sensorineural hearing impairment OMIM:600792
Deafness, Autosomal Recessive 3
Profound sensorineural hearing impairment OMIM:600316
Deafness, Autosomal Recessive 59
Sensorineural hearing impairment OMIM:610220
Deafness, Autosomal Dominant 59
Sensorineural hearing impairment OMIM:612642
Deafness, Autosomal Dominant 3B
Adult onset sensorineural hearing impairment OMIM:612643
Deafness, Autosomal Recessive 61
Sensorineural hearing impairment OMIM:613865
Deafness, Autosomal Dominant 4A
Progressive sensorineural hearing impairment OMIM:600652
Deafness, Autosomal Recessive 117
Sensorineural hearing impairment OMIM:619174
Deafness, Autosomal Recessive 63
Congenital sensorineural hearing impairment OMIM:611451
Deafness, Autosomal Recessive 71
Prelingual sensorineural hearing impairment OMIM:612789
Deafness, Autosomal Recessive 22
Sensorineural hearing impairment OMIM:607039
Deafness, Autosomal Recessive 62
Prelingual sensorineural hearing impairment OMIM:610143
Deafness, Autosomal Recessive 101
Bilateral sensorineural hearing impairment OMIM:615837
Deafness, Autosomal Recessive 49
Prelingual sensorineural hearing impairment OMIM:610153
Deafness, Autosomal Recessive 44
Prelingual sensorineural hearing impairment OMIM:610154
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 24
Profound sensorineural hearing impairment OMIM:611022
Deafness, Autosomal Recessive 83
Prelingual sensorineural hearing impairment OMIM:613685
Deafness, Autosomal Recessive 35
Sensorineural hearing impairment OMIM:608565
Deafness, Autosomal Recessive 46
Profound sensorineural hearing impairment OMIM:609647
Deafness, Autosomal Recessive 42
Sensorineural hearing impairment OMIM:609646
Deafness, Autosomal Dominant 66
Sensorineural hearing impairment OMIM:616969
Deafness, Autosomal Dominant 70
Progressive sensorineural hearing impairment OMIM:616968
Deafness, Autosomal Dominant 44
Sensorineural hearing impairment OMIM:607453
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment OMIM:618915
Deafness, Autosomal Dominant 22
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:606346
Deafness, Autosomal Dominant 71
Sensorineural hearing impairment OMIM:617605
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment OMIM:616515
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:221745
Deafness, Neural, Congenital Moderate
Sensorineural hearing impairment OMIM:221500
Deafness, Autosomal Dominant 69
Sensorineural hearing impairment OMIM:616697
Deafness, Autosomal Recessive 113
Sensorineural hearing impairment OMIM:618410
Neuropathy, Hereditary Motor And Sensory, With Deafness, Mental Retardation, And Absent Sensory Large Myelinated Fibers
Sensorineural hearing impairment OMIM:214370
Deafness, Autosomal Recessive 100
Sensorineural hearing impairment OMIM:618422
Deafness, Autosomal Recessive 12
Prelingual sensorineural hearing impairment OMIM:601386
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 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Recessive 28
Severe sensorineural hearing impairment OMIM:609823
Deafness, Autosomal Recessive 40
Prelingual sensorineural hearing impairment OMIM:608264
Deafness, Autosomal Recessive 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment OMIM:601869
Deafness, Autosomal Dominant 27
Sensorineural hearing impairment OMIM:612431
Deafness, Autosomal Recessive 45
Prelingual sensorineural hearing impairment OMIM:612433
Deafness, Autosomal Dominant 5
Progressive sensorineural hearing impairment OMIM:600994
Deafness, Autosomal Recessive 98
Sensorineural hearing impairment OMIM:614861
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Deafness, Autosomal Dominant 78
Profound sensorineural hearing impairment OMIM:619081
Deafness, Autosomal Dominant 79
Progressive sensorineural hearing impairment OMIM:619086
Deafness, Autosomal Recessive 79
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:613307
Deafness, Autosomal Recessive 116
Sensorineural hearing impairment OMIM:619093
Deafness, Autosomal Recessive 38
Prelingual sensorineural hearing impairment OMIM:608219
Deafness, Autosomal Recessive 7
Sensorineural hearing impairment OMIM:600974
Deafness, Autosomal Dominant 6
Progressive sensorineural hearing impairment, Low-frequency sensorineural hearing impairment OMIM:600965
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533
Deafness, Autosomal Recessive 39
Prelingual sensorineural hearing impairment OMIM:608265
Mental Retardation, X-Linked 46
Sensorineural hearing impairment OMIM:300436
Deafness, X-Linked 1
Sensorineural hearing impairment OMIM:304500
Deafness, Autosomal Dominant 47
Sensorineural hearing impairment OMIM:608652
Deafness, Autosomal Dominant 31
Old-aged sensorineural hearing impairment OMIM:608645
Deafness, Autosomal Recessive 76
Progressive sensorineural hearing impairment OMIM:615540
Deafness, Autosomal Dominant 28
Sensorineural hearing impairment OMIM:608641
Deafness, Autosomal Dominant 53
Sensorineural hearing impairment OMIM:609965
Deafness, Autosomal Dominant 30
Sensorineural hearing impairment OMIM:606451
Deafness, Autosomal Recessive 18A
Sensorineural hearing impairment OMIM:602092
Deafness, Autosomal Recessive 53
Sensorineural hearing impairment OMIM:609706
Deafness, Autosomal Recessive 85
Prelingual sensorineural hearing impairment OMIM:613392
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment OMIM:605583
Deafness, Autosomal Recessive 51
Sensorineural hearing impairment OMIM:609941
Deafness, X-Linked 3
Congenital sensorineural hearing impairment OMIM:300030
Deafness, Autosomal Recessive 2
Vertigo, Sensorineural hearing impairment, Vestibular dysfunction OMIM:600060
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Deafness, Autosomal Dominant 11
Vertigo, Vestibular dysfunction, Bilateral sensorineural hearing impairment OMIM:601317
Spastic Paraplegia 24, Autosomal Recessive
Spastic paraplegia, Clonus, Tip-toe gait, Spasticity OMIM:607584
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Attention deficit hyperactivity disorder, Speech apraxia OMIM:245570
Deafness-Oligodontia Syndrome
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear ORPHA:3230
Posterior Column Ataxia
Impaired vibratory sensation, Ataxia, Impaired proprioception OMIM:176250
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Cochlear aplasia, Morphological abnormality of the semicircul... OMIM:619274
Cochleosaccular Degeneration With Progressive Cataracts
Hearing impairment OMIM:120040
Autosomal Recessive Spastic Paraplegia Type 24
Spastic paraplegia, Sensorineural hearing impairment, Clonus, Tip-toe gait, Scissor gait, Spasticity ORPHA:101004
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Dystonia, Tremor, Spastic ataxia, Limb ataxia, Difficulty walking, Hypertonia... ORPHA:251282
Atypical Pantothenate Kinase-Associated Neurodegeneration
Clumsiness, Emotional lability, Impulsivity, Upper motor neuron dysfunction, Rigidity, Spasticity... ORPHA:216873
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Torticollis, Ataxia ORPHA:71518
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration, Spastic tetraplegia OMIM:258700
Early-Onset Generalized Limb-Onset Dystonia
Gait disturbance, Hypertonia ORPHA:256
Autism, Susceptibility To, X-Linked 4
Attention deficit hyperactivity disorder, Motor tics OMIM:300830
Schizophrenia 15
Hyperactivity OMIM:613950
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Stereotypy OMIM:606053
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Smith-Magenis syndrome
Stereotypy, Hyperactivity DECIPHER:8
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration, Ataxia ORPHA:3233
Episodic Kinesigenic Dyskinesia 2
Involuntary movements, Chorea, Paroxysmal dyskinesia, Dystonia OMIM:611031
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration, Ataxia OMIM:271250
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Low-frequency hearing loss, Sensorineural hearing impairment, Progressive hearing impairment OMIM:124900
Episodic Ataxia Type 4
Abnormal head movements, Frequent falls, Incoordination, Ataxia ORPHA:79136
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Steppage gait, Hand tremor, Sensorineural hearing impairment OMIM:300905
Myoclonus, Cerebellar Ataxia, And Deafness
Hearing impairment, Myoclonus, Ataxia OMIM:159800
Gilles De La Tourette Syndrome
Phonic tics, Attention deficit hyperactivity disorder, Motor tics OMIM:137580
Huntington Disease
Dystonia, Decreased body mass index, Clumsiness, Poor fine motor coordination, Weight loss, Rigid... ORPHA:399
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Striatonigral Degeneration, Infantile
Dystonia, Dysphagia, Failure to thrive, Optic atrophy, Choreoathetosis, Spasticity OMIM:271930
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mohr-Tranebjaerg Syndrome
Dystonia, Global brain atrophy, Sensorineural hearing impairment, Generalized dystonia, Abnormali... ORPHA:52368
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Dystonia, Dysphagia, Chorea, Gait disturbance, Ataxia, Craniofacial dystonia, Myoclonus, Involunt... OMIM:617282
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Huntington Disease-Like 3
Dystonia, Extrapyramidal muscular rigidity, Abnormality of extrapyramidal motor function, Progres... ORPHA:157946
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Meniere Disease
Hearing impairment, Vertigo, Tinnitus OMIM:156000
Deafness, Autosomal Dominant 41
Progressive sensorineural hearing impairment, Hearing impairment, Tinnitus OMIM:608224
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Ataxia, Optic atrophy OMIM:136600
Spinocerebellar Ataxia 17
Dystonia, Gliosis, Rigidity, Aggressive behavior, Chorea, Ataxia, Parkinsonism, Neuronal loss in ... OMIM:607136
Pick Disease Of Brain
Emotional blunting, Inappropriate laughter, Disinhibition, Polyphagia, Gliosis, Apathy, Diminishe... OMIM:172700
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Dystonia, Depression, Chorea, Ataxia, Parkinsonism, Myoclonus, Anxiety, Upper motor neuro... ORPHA:401901
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Deafness, Autosomal Dominant 9
Vertigo, Cochlear degeneration, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Deafness, Autosomal Dominant 2A
Hearing impairment, Tinnitus OMIM:600101
Deafness, Autosomal Dominant 58
Hearing impairment, Tinnitus OMIM:615654
Deafness, Autosomal Recessive 37
Vestibular dysfunction, Bilateral sensorineural hearing impairment, Sensorineural hearing impairm... OMIM:607821
Cerebellar Ataxia And Neurosensory Deafness
Sensorineural hearing impairment, Ataxia OMIM:212850
Spinocerebellar Ataxia, Autosomal Recessive 27
Gait ataxia, Gliosis, Depression, Dysphagia, Cerebral atrophy, Torticollis, Cerebellar atrophy, F... OMIM:618369
Autosomal Recessive Spastic Paraplegia Type 27
Dysdiadochokinesis, Spastic paraplegia, Sensorineural hearing impairment, Babinski sign, Abnormal... ORPHA:101007
Spinocerebellar Ataxia 48
Tremor, Gait ataxia, Dystonia, Depression, Dysphagia, Chorea, Ataxia, Cerebellar atrophy, Parkins... OMIM:618093
Hsd10 Disease
Tremor, Choreoathetosis, Spastic paraparesis, Dysphagia, Gait disturbance, Ataxia, Postnatal grow... ORPHA:391417
Mental Retardation, Autosomal Recessive 58
Aggressive behavior, Self-injurious behavior, Spastic diplegia, Pica, Short stature, Stereotypy, ... OMIM:617270
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Tremor, Myoclonus, Dystonia OMIM:611092
Huntington Disease-Like 1
Basal ganglia gliosis, Incoordination, Aggressive behavior, Depression, Global brain atrophy, Cho... OMIM:603218
Frontotemporal Dementia With Motor Neuron Disease
Degeneration of the lateral corticospinal tracts, Apraxia, Disinhibition, Gliosis, Abnormality of... ORPHA:275872
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Progressive extrapyramidal movement disorder, Abnormality of extrapyramidal motor funct... ORPHA:382
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Spastic tetraplegia, Babinski sign, Hyperactivity OMIM:616657
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Oculomotor apraxia, Ataxia, Jerky head movements, Choreoathetosis OMIM:245348
Developmental And Epileptic Encephalopathy 56
Attention deficit hyperactivity disorder, Poor coordination, Ataxia, Broad-based gait OMIM:617665
Ocular Motor Apraxia
Jerky head movements, Oculomotor apraxia OMIM:257550
Deafness, Autosomal Dominant 50
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... OMIM:613074
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Progressive sensorineural hearing impairment, Slowed slurred speech, Cochlear degeneration, Ataxia OMIM:172500
Familial Infantile Bilateral Striatal Necrosis
Astrocytosis, Basal ganglia gliosis, Dystonia, Hypertonia, Tetraparesis, Rigidity, Spasticity, At... ORPHA:225154
Salt And Pepper Developmental Regression Syndrome
Global brain atrophy, Hearing impairment, Irritability, Myoclonus, Failure to thrive, Optic atrop... OMIM:609056
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Deafness, X-Linked 2
Progressive sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Mi... OMIM:304400
Immunodeficiency 8
Hyperactivity OMIM:615401
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Abnormal pyramidal sign, Progressive cerebe... ORPHA:247815
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Spasticity OMIM:615493
Periventricular Nodular Heterotopia 8
Attention deficit hyperactivity disorder, Spasticity OMIM:618185
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Huntington Disease-Like 2
Dystonia, Depression, Chorea, Apathy, Bradykinesia, Action tremor, Weight loss, Irritability, Anx... OMIM:606438
Spinocerebellar Ataxia 7
Tremor, Pigmentary retinopathy, Abnormality of extrapyramidal motor function, Chorea, Progressive... OMIM:164500
Neurodegeneration With Brain Iron Accumulation
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Cerebellar atrophy, Optic atrophy... ORPHA:385
N-Acetylaspartate Deficiency
Unsteady gait, Truncal ataxia, Stereotypy OMIM:614063
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Pigmentary retinopathy, Ataxia, Spasticity OMIM:614307
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, EEG abnormality, Hyperactivity ORPHA:436151
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Leukodystrophy, Hypomyelinating, 6
Tremor, Choreoathetosis, Dystonia, Ataxia, Hearing impairment, Cerebellar atrophy, Short stature,... OMIM:612438
Myoclonus, Familial, 1
Frequent falls, Falls, Myoclonus, Ataxia OMIM:614937
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Inability to walk, Macrotia, Chorea, Hypertonia, Cerebral cortical atrophy, Optic nerve hypoplasi... OMIM:617864
Inherited Creutzfeldt-Jakob Disease
Astrocytosis, Clumsiness, Global brain atrophy, Spastic hemiparesis, Emotional lability, Progress... ORPHA:282166
Juvenile Huntington Disease
Dystonia, Gait ataxia, Depression, Chorea, Ataxia, Bradykinesia, Weight loss, Progressive cerebel... ORPHA:248111
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia, Failure to thrive OMIM:143860
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Gait ataxia, Cochlear degeneration, Spinocerebellar atrophy, Head tremor, Difficulty walking, Pro... ORPHA:95433
Huntington Disease-Like 2
Dystonia, Chorea, Gait disturbance, Weight loss, Cerebral cortical atrophy, Parkinsonism, Involun... ORPHA:98934
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility, Bilateral sensorineural heari... OMIM:611102
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Incoordination, Chorea, Gait disturbance, Poor fine motor coordination, ... ORPHA:157941
Developmental And Epileptic Encephalopathy 58
Inability to walk, Hypsarrhythmia, Spastic diplegia, Stereotypy, Optic atrophy OMIM:617830
Deafness, Congenital, And Familial Myoclonic Epilepsy
Hearing impairment, Myoclonus OMIM:220300
Pelizaeus-Merzbacher Disease
Tremor, Dystonia, Reduction of oligodendroglia, Dysphagia, Progressive spastic quadriplegia, Abno... OMIM:312080
Worster-Drought Syndrome
Tetraplegia, Abnormal cranial nerve morphology, Sensorineural hearing impairment ORPHA:3465
Paralysis Agitans, Juvenile, Of Hunt
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
Fraxe Intellectual Disability
Clumsiness, Aggressive behavior, Intrauterine growth retardation, Impulsivity, Prominent ear heli... ORPHA:100973
Tremor, Hereditary Essential, 5
Postural tremor, Kinetic tremor, Tongue tremor, Intention tremor OMIM:616736
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Paroxysmal Exertion-Induced Dyskinesia
Torsion dystonia, Dystonia, Aggressive behavior, Paresthesia, Chorea, Paroxysmal dyskinesia, Atax... ORPHA:98811
Liberfarb Syndrome
Retinal pigment epithelial mottling, Retinal degeneration, Sensorineural hearing impairment, Bone... OMIM:618889
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Stereotypy, Attention deficit hyperactivity disorder, Ataxia OMIM:618709
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity, Rigidity OMIM:618090
Non-Syndromic Genetic Deafness
Progressive sensorineural hearing impairment, High-frequency hearing impairment, Low-frequency se... ORPHA:87884
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Dystonia, Dysphagia, Hypertonia, Irritability, Myoclonus, Choreoathetosis OMIM:261630
Dystonia 3, Torsion, X-Linked
Tremor, Torsion dystonia, Parkinsonism with favorable response to dopaminergic medication, Chorea... OMIM:314250
Huntington Disease
Gait ataxia, Gliosis, Depression, Chorea, Bradykinesia, Cerebellar atrophy, Rigidity, Neuronal lo... OMIM:143100
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Spasticity ORPHA:356996
Schimke X-Linked Mental Retardation Syndrome
Hearing impairment, Choreoathetosis, Growth delay, Spasticity OMIM:312840
Usher Syndrome, Type I
Sensorineural hearing impairment, Absent vestibular function, Rod-cone dystrophy OMIM:276900
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Ataxia ORPHA:2246
Ceroid Lipofuscinosis, Neuronal, 7
Pigmentary retinopathy, Ataxia, EEG abnormality, Optic atrophy, Retinopathy OMIM:610951
Early-Onset X-Linked Optic Atrophy
Dysdiadochokinesis, Gait ataxia, Intention tremor, Emotional lability, Babinski sign, Decreased n... ORPHA:98890
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Unsteady gait, Frequent falls OMIM:616921
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls ORPHA:494526
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Aggressive behavior, Macrotia, Low-set ears, Posteriorly rotated ears, Small for ges... OMIM:609425
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Emotional lability, Dysphagia, Gait disturbance, Chorea OMIM:607674
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Gliosis, Limb ataxia, Ataxia, Unsteady gait, Dysmetria, Shor... OMIM:213200
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Abnormality of extrapyramidal motor function, Dysphagia, Chorea, Abnormal pyramidal sig... OMIM:617672
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
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, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Paroxysmal Non-Kinesigenic Dyskinesia
Dystonia, Choreoathetosis, Chorea, Paroxysmal dyskinesia, Hyperkinetic movements, Torticollis, In... ORPHA:98810
Autism, Susceptibility To, 3
Impaired ability to form peer relationships, EEG abnormality, Stereotypy, Impaired use of nonverb... OMIM:608049
Spinocerebellar Ataxia Type 1
Dysdiadochokinesis, Postural tremor, Dystonia, Inertia, Dysphagia, Abnormal nerve conduction velo... ORPHA:98755
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Gait disturbance, Pigmentary retinopathy, Ataxia ORPHA:1178
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Choreoathetosis, Dystonia, Dysphagia, Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Sma... OMIM:261640
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoclonus, Hyperactivity, Spasti... OMIM:615924
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormal auditory evoked potentials, Ataxia, Spasti... ORPHA:99852
Dystonia 27
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia OMIM:616411
Myopathy With Extrapyramidal Signs
Tremor, Dystonia, Abnormality of extrapyramidal motor function, Difficulty walking, Chorea, Ataxi... OMIM:615673
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Impaired social interactions, Hyperkinetic movements, Macrotia ORPHA:397933
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Inappropriate laughter, Aggressive behavior, Chorea, Paroxysmal dyskinesia, Poor coordi... OMIM:619150
Claustrophobia, Clumsiness, Depression, Tics, Chorea, Agoraphobia, Emotional lability, Separation... ORPHA:66624
Primary Dystonia, Dyt27 Type
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Li... ORPHA:464440
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Self-mutilation, Tremor, Overweight, Gliosis, Macrotia, Upper limb spasticity, Depression, Gait d... ORPHA:457240
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Inability to walk, Dystonia, Chorea, Cerebral atrophy, Ataxia, Low-set ears, Cerebellar atrophy, ... OMIM:617804
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Gait disturbance, ... ORPHA:363710
3-Methylglutaconic Aciduria, Type Iii
Abnormality of extrapyramidal motor function, Chorea, Ataxia, Babinski sign, Optic atrophy, Spast... OMIM:258501
Glucose-Galactose Malabsorption
Hypernatremia, Failure to thrive, Hypercalcemia, Weight loss ORPHA:35710
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Dystonia, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Frontotemporal Dementia
Inappropriate laughter, Disinhibition, Polyphagia, Apathy, Diminished motivation, Amyotrophic lat... OMIM:600274
Infantile Neuronal Ceroid Lipofuscinosis
Tremor, Dystonia, Clumsiness, Dysphagia, Chorea, Poor fine motor coordination, Cerebral atrophy, ... ORPHA:79263
Xylosidase Deficiency
Hearing impairment, Choreoathetosis OMIM:278900
Spinocerebellar Ataxia, X-Linked 3
Unilateral vocal cord paralysis, Incoordination, Lethargy, Gliosis, Dysphagia, Head titubation, C... OMIM:301790
Intellectual Developmental Disorder, X-Linked 12
Tremor, Gliosis, Depression, Gait disturbance, Hyperkinetic movements, Truncal obesity, Sensorine... OMIM:300957
Usher Syndrome Type 1
Ataxia, Subcortical cerebral atrophy, Cerebral cortical atrophy, Sensorineural hearing impairment... ORPHA:231169
Basal Ganglia Calcification, Idiopathic, 5
Vertigo, Depression, Chorea, Apathy, Parkinsonism, Anxiety, Athetosis, Motor tics OMIM:615483
Neurodegeneration With Brain Iron Accumulation 3
Tremor, Choreoathetosis, Dystonia, Disinhibition, Dysphagia, Chorea, Neurodegeneration, Blepharos... OMIM:606159
Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal dystonia, Dysphagia, Torticollis, Paroxysmal choreoathetosis OMIM:118800
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Stereotypy, Tremor, Ataxia OMIM:617862
Hyperprolinemia, Type I
Stereotypy, Ataxia, Hyperactivity OMIM:239500
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation, Ataxia ORPHA:2579
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy, Hearing impairment, Waddling gait, Babinski sign, Spasticity OMIM:619090
Abnormality of retinal pigmentation, Ankle clonus OMIM:145290
Chorea, Benign Hereditary
Chorea, Gait disturbance, Anxiety OMIM:118700
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Inability to walk, Dystonia, Chorea, Self-injurious behavior, Hyperkinetic movements, Cerebral at... OMIM:614254
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Abnormal motor evoked potentials, Ataxia, Somatic sensory dysfunction, Lower ... ORPHA:320401
Mental Retardation, Autosomal Recessive 39
Aggressive behavior, Anteverted ears, Macrotia, Short stature, Hyperactivity, Stereotypy OMIM:615541
Dystonia 23
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Torticollis, Myoclonus, Limb dystonia OMIM:614860
Intellectual Developmental Disorder, X-Linked 104
Tremor, Aggressive behavior, Abnormality of the pinna, Ataxia, Cerebral cortical atrophy, Hyperac... OMIM:300983
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Dysphagia, Chorea, Abnormal pyramidal sign, Bradykinesia, Ataxia, Parkinsonism, Dysmetria OMIM:618317
Friedreich Ataxia
Inability to walk, Decreased motor nerve conduction velocity, Gait ataxia, Dystonia, Impaired pro... ORPHA:95
Dentatorubral-Pallidoluysian Atrophy
Chorea, Abnormal pyramidal sign, Ataxia, Myoclonus, Choreoathetosis OMIM:125370
Developmental And Epileptic Encephalopathy 37
Rigidity, Gait disturbance, Hyperkinetic movements, Cerebral atrophy, Cerebellar atrophy, Myoclon... OMIM:616981
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Impaired pain sensation, Aggressive behavior, Abnormali... ORPHA:500180
Hyperekplexia 3
Exaggerated startle response, Hypertonia OMIM:614618
Parkinson Disease 2, Autosomal Recessive Juvenile
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:600116
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Stereotypical hand wringing, Chorea, Dystonia, Inability to walk OMIM:618760
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia OMIM:300928
Leukoencephalopathy, Hereditary Diffuse, With Spheroids
Apraxia, Gliosis, Depression, Bradykinesia, Rigidity, Neuronal loss in central nervous system, Sh... OMIM:221820
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Difficulty walking, Stereotypy, Spasticity OMIM:617393
Deafness-Infertility Syndrome
Male infertility, Azoospermia, Sensorineural hearing impairment ORPHA:94064
Childhood-Onset Benign Chorea With Striatal Involvement
Chorea, Anxiety, Parkinsonism with favorable response to dopaminergic medication ORPHA:494541
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
Dystonia With Ringbinden
Gait disturbance, Dystonia, Chorea OMIM:224550
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Dysphagia, Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, C... OMIM:617519
Usher Syndrome Type 3
Sensorineural hearing impairment, Abnormal cochlea morphology, Ataxia, Vestibular hypofunction ORPHA:231183
Basal Ganglia Calcification, Idiopathic, 6
Involuntary movements, Choreoathetosis, Parkinsonism, Depression OMIM:616413
Spinocerebellar Ataxia 31
Gait ataxia, Limb ataxia, Ataxia, Cerebellar atrophy, Sensorineural hearing impairment OMIM:117210
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Apraxia, Lethargy, Chorea, Hypertonia, Hemiparesis, Ataxia, Paralysis, Myoclonus, Extra... ORPHA:71277
Baker-Gordon Syndrome
Inability to walk, Dystonia, Self-injurious behavior, Hyperkinetic movements, Ataxia, Stereotypy,... OMIM:618218
Pontocerebellar Hypoplasia, Type 2D
Chorea, Cerebral atrophy, Cerebellar atrophy, Irritability, Spastic tetraplegia, Clonus OMIM:613811
Leukoencephalopathy With Vanishing White Matter
Lethargy, Gliosis, Gait disturbance, Primary amenorrhea, Emotional lability, Unsteady gait, Secon... OMIM:603896
Ataxia, Deafness, And Cardiomyopathy
Sensorineural hearing impairment, Ataxia OMIM:208750
Alternating Hemiplegia Of Childhood 2
Hemiplegia, Dystonia, Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis OMIM:614820
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
Choreoathetosis, Familial Inverted
Gait disturbance, Abnormal pyramidal sign, Rigidity, Progressive choreoathetosis OMIM:118750
Sydenham Chorea
Chorea, Hemiballismus, Emotional lability, Unsteady gait, Irritability, Inappropriate behavior ORPHA:306731
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Depression, Chorea, Cerebral atrophy, Impulsivity, Stereotypy, Hyperactivity, Spasticity ORPHA:88616
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Gait ataxia, Cerebral atrophy, Cerebellar atrophy, Sensorineural hearing impairment, Babinski sig... OMIM:616192
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Lethargy, Hemiparesis, Paralysis, Ataxia, Myoclonus, Babinski sign, Choreoat... OMIM:606777
Sinoatrial Node Dysfunction And Deafness
Hearing impairment OMIM:614896
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Dystonia, Choreoathetosis, Abnormality of extrapyramidal motor function, Depression, Dysphagia, H... ORPHA:13
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Apraxia, Disinhibition, Gliosis, Aggressive behavior, Gait disturbance, Cerebral atrophy, Abnorma... OMIM:221770
Jaberi-Elahi Syndrome
Inability to walk, Tremor, Gait ataxia, Dystonia, Low-set ears, Cerebellar atrophy, Protruding ea... OMIM:617988
Pontocerebellar Hypoplasia, Type 11
Inability to walk, Macrotia, Difficulty walking, Dysphagia, Limb ataxia, Poor coordination, Ataxi... OMIM:617695
Fragile X Syndrome
Abnormal head movements, Hyperactivity OMIM:300624
Spinocerebellar Ataxia Type 2
Postural tremor, Kinetic tremor, Gait ataxia, Dystonia, Cerebellar Purkinje layer atrophy, Chorea... ORPHA:98756
Pendred Syndrome
Hypoplasia of the cochlea, Vertigo, Enlarged vestibular aqueduct, Sensorineural hearing impairmen... ORPHA:705
Leigh Syndrome
Dystonia, Gliosis, Ataxia, Emotional lability, Sensorineural hearing impairment, Failure to thriv... OMIM:256000
Deafness, Autosomal Dominant 16
Adult onset sensorineural hearing impairment, Tinnitus OMIM:603964
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypertonia, Hyponatremia, Ataxia, Myoclonus, Spasticity OMIM:618426
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Spasticity, Ankle clonus, Sensorineural he... OMIM:270500
Combined Oxidative Phosphorylation Deficiency 13
Dystonia, Growth delay, Sensorineural hearing impairment, Decreased nerve conduction velocity, Ch... OMIM:614932
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Dysmetria OMIM:617917
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor, Broad-based ... OMIM:616053
Central Diabetes Insipidus
Failure to thrive, Lethargy, Hyponatremia, Weight loss ORPHA:178029
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Pettigrew Syndrome
High-frequency hearing impairment, Gait ataxia, Self-injurious behavior, Sensorineural hearing im... OMIM:304340
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Pseudobulbar paralysis, Orthostatic hypotension due to autonomic dysfunction, Gliosis, Autonomic ... OMIM:169500
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy, Ataxia OMIM:551500
Insulin-Like Growth Factor I Deficiency
Decreased body weight, Sensorineural hearing impairment, Short stature, Hyperactivity, Intrauteri... OMIM:608747
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
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Dystonia, Abnormality of extrapyramidal motor function, Palatal myoclonus... ORPHA:99
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Hypertonia, Bradykinesia, Limb hypertonia, Oculogyric crisis, Parkinsonism, Attention d... OMIM:617384
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis, Emotional blunting, Disinhibition, Aggressive behavior, Abnormality of extrapyramid... ORPHA:275864
Combined Oxidative Phosphorylation Deficiency 14
Gliosis, Growth delay, Cerebral atrophy, Hearing impairment, Cerebellar atrophy, Myoclonus, Atrop... OMIM:614946
Neurodegeneration With Brain Iron Accumulation 2A
Gliosis, Abnormal pyramidal sign, Cerebral atrophy, Neurodegeneration, Ataxia, Hearing impairment... OMIM:256600
Pyruvate Carboxylase Deficiency
Tremor, Hypernatremia, Hypoglutaminemia, Abnormal pyramidal sign, Increased level of L-glutamic a... ORPHA:3008
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Chorioretinal atro... OMIM:607921
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis, Dystonia, Disinhibition, Aggressive behavior, Apathy, Gait disturbance, Cerebral co... OMIM:600795
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gliosis, Gait disturbance, Degeneration of anterior horn cells, Distal sensory impairment, Tetrap... OMIM:604484
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Ataxia OMIM:616949
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Dystonia, Hyperkinetic movements, Cerebral atrophy, Myoclonus, Choreoathetosis OMIM:618497
Striatonigral Degeneration, Infantile, Mitochondrial
Difficulty walking, Frequent falls, Paroxysmal choreoathetosis, Babinski sign OMIM:500003
Cataract-Ataxia-Deafness Syndrome
Adult onset sensorineural hearing impairment, Tremor, Hypertonia, Ataxia, Sensorineural hearing i... ORPHA:1368
Central Areolar Choroidal Dystrophy
Macular atrophy, Perifoveal ring of hyperautofluorescence, Foveal photoreceptor outer segment los... ORPHA:75377
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Apraxia, Gliosis, Depression, Paraparesis, Apathy, Cerebral atrophy, Tetraparesis, Abnormal lower... OMIM:105550
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Machado-Joseph Disease
Dystonia, Truncal ataxia, Gliosis, Impaired vibratory sensation, Abnormality of extrapyramidal mo... OMIM:109150
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia, Failure to thrive OMIM:125800
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Progressive extrapyramidal movement disorder, Difficulty walking, Chorea, Resting tremo... ORPHA:401768
Diabetes Insipidus, Nephrogenic, X-Linked
Hypernatremia, Failure to thrive OMIM:304800
Gm2 Gangliosidosis, Ab Variant
Dystonia, Chorea, Progressive spastic quadriplegia, Abnormal pyramidal sign, Cerebral atrophy, Ne... ORPHA:309246
Hsd10 Mitochondrial Disease
Aggressive behavior, Cerebral cortical atrophy, Sensorineural hearing impairment, Spastic tetrapl... OMIM:300438
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Resting tremor, Bradykinesia OMIM:616710
Developmental And Epileptic Encephalopathy 1
Dystonia, Global brain atrophy, Erratic myoclonus, Dysphagia, Hypertonia, Abnormal pyramidal sign... OMIM:308350
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Inability to walk, Cogwheel rigidity, Gait ataxia, Dystonia, Lethargy, Dysphagia, Hypertonia, Cho... OMIM:607483
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Aggressive behavior, Growth delay, Oculomotor apraxia, Ataxia, Hyperactivity, C... OMIM:612716
Mitochondrial Complex I Deficiency, Nuclear Type 26
Dystonia, Dysphagia, Cerebral atrophy, Hearing impairment, Limb hypertonia, Cerebellar atrophy, C... OMIM:618247
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Tetraplegia/tetraparesis, Progressive spastic paraparesis, Retinal pigment epithelial mottling, H... ORPHA:506353
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Gait disturbance, Ataxia, Abnormal auditory evoked ... OMIM:125250
Developmental And Epileptic Encephalopathy 14
Gliosis, Cerebral cortical atrophy, Tetraplegia, Clonus, Neuronal loss in central nervous system,... OMIM:614959
6Q16 Microdeletion Syndrome
Polyphagia, Abnormal ear morphology, Poor coordination, Low-set ears, Obesity, Microtia, Broad-ba... ORPHA:171829
Autosomal Dominant Striatal Neurodegeneration
Dysdiadochokinesis, Gait disturbance, Rigidity, Bradykinesia ORPHA:228169
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Ataxia, Myoclonus, Dysmetria, Attention deficit hyperactivity disorder OMIM:619191
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Hyperactivity, Dysphagia, Hypertonia, Chorea, Cerebral... OMIM:610217
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:610359
Alternating Hemiplegia Of Childhood 1
Episodic hemiplegia, Dystonia, Episodic quadriplegia, Tetraplegia, Choreoathetosis OMIM:104290
Pendred Syndrome
Cochlear malformation, Vestibular dysfunction, Congenital sensorineural hearing impairment OMIM:274600
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypertonia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Cerebral palsy ORPHA:529808
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Tremor, Macrotia, Ataxia, Spastic gait, Parkinsonism, Babinski sign, Choreoathetosis, Shuffling gait OMIM:300055
Acute Bilirubin Encephalopathy
Hypernatremia, Hypertonia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Cerebral palsy ORPHA:529799
Hereditary Late-Onset Parkinson Disease
Dystonia, Orthostatic hypotension due to autonomic dysfunction, Gliosis, Parkinsonism with favora... ORPHA:411602
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Dystonia, Corpus callosum atrophy, Dysphagia, Cerebral atrophy, Ataxia, Cerebellar atrophy, Dysme... OMIM:618088
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response, Hypertonia OMIM:300607
Glut1 Deficiency Syndrome 2
Tremor, Dystonia, Cerebral atrophy, Ataxia, Irritability, Choreoathetosis OMIM:612126
Branchiootic Syndrome 1
Hypoplasia of the cochlea, Cochlear malformation, Low-set ears, Cupped ear, Sensorineural hearing... OMIM:602588
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Spastic paraplegia, Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Sporadic Creutzfeldt-Jakob Disease
Astrocytosis, Gliosis, Akinetic mutism, Abnormality of extrapyramidal motor function, Abnormal py... ORPHA:204
Kearns-Sayre Syndrome
Hemiplegia/hemiparesis, Hearing impairment, Abnormality of retinal pigmentation, Ataxia ORPHA:480
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Choreoathetosis, Dystonia, Spastic paraparesis, Cerebr... OMIM:608804
Mental Retardation, Autosomal Dominant 6, With Or Without Seizures
Chorea, Dystonia, Spasticity OMIM:613970
Mitochondrial Complex I Deficiency, Nuclear Type 16
Dystonia, Caudate atrophy, Spastic tetraplegia, Failure to thrive, Intrauterine growth retardatio... OMIM:618238
Ataxia-Telangiectasia-Like Disorder
Dysdiadochokinesis, Dystonia, Gait ataxia, Hypergonadotropic hypogonadism, Chorea, Oculomotor apr... ORPHA:251347
Parkinson Disease 17
Tremor, Akinesia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614203
Otosclerosis 7
Otosclerosis, Abnormality of the acoustic reflex, Conductive hearing impairment, Hearing impairme... OMIM:611572
Primary Dystonia, Dyt2 Type
Tremor, Torsion dystonia, Difficulty walking, Blepharospasm, Torticollis, Generalized dystonia, L... ORPHA:99657
Glutathione Synthetase Deficiency
Spastic tetraparesis, Pigmentary retinopathy, Ataxia, Intention tremor OMIM:266130
Foxg1 Syndrome
Inability to walk, Dystonia, Inappropriate crying, Difficulty walking, Hyperkinetic movements, De... ORPHA:561854
Spastic Paraplegia 81, Autosomal Recessive
Inability to walk, Upper limb spasticity, Ankle clonus, Lower limb spasticity, Sensorineural hear... OMIM:618768
Spastic Tetraplegia And Axial Hypotonia, Progressive
Hypertonia, Spastic tetraparesis, Abnormal pyramidal sign, Ataxia, Ankle clonus, Exaggerated star... OMIM:618598
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Developmental And Epileptic Encephalopathy 40
Cerebral cortical atrophy, Choreoathetosis, Myoclonus, Spasticity OMIM:617065