Gene Summary

Name:
myosin VIIA
Synonyms:
Hdb,  nmf371,  polka,  Myo7,  USH1B

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased bone mineral content Myo7aHdb HOM Early adult 2.49×10-07
abnormal locomotor activation Myo7aHdb HOM Early adult 5.49×10-07
increased lean body mass Myo7aHdb HOM Early adult 1.47×10-11
decreased lean body mass Myo7aHdb HOM Early adult 1.24×10-07
decreased body length Myo7aHdb HOM Early adult 5.57×10-07
increased thermal nociceptive threshold Myo7aHdb HOM Early adult 9.18×10-06
trunk curl Myo7atm1a(EUCOMM)Wtsi HOM Early adult 7.01×10-20
stereotypic behavior Myo7atm1a(EUCOMM)Wtsi HOM Early adult 1.56×10-16
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
decreased body weight Myo7aHdb HOM Early adult 4.31×10-34
absent pinna reflex Myo7atm1a(EUCOMM)Wtsi HOM Early adult 1.05×10-18
decreased bone mineral density Myo7aHdb HOM   Early adult 1.82×10-05
abnormal bone mineralization Myo7aHdb HOM Early adult 1.80×10-11
increased blood urea nitrogen level Myo7atm1a(EUCOMM)Wtsi HOM Early adult 9.22×10-05
increased total body fat amount Myo7aHdb HOM Early adult 6.16×10-16
increased circulating sodium level Myo7atm1a(EUCOMM)Wtsi HOM   Early adult 8.21×10-06
impaired righting response Myo7atm1a(EUCOMM)Wtsi HOM Early adult 1.38×10-08

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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.

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Forepaw

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

15 Images

Legacy Phenotype Associated Images

View all 478 images

View all 9 images

View all 8 images

View all 7 images

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
phenotypes
Matching phenotypes Source
Deafness, Aminoglycoside-Induced
Aminoglycoside-induced hearing loss OMIM:580000
Deafness, Autosomal Recessive 89
Hearing impairment OMIM:613916
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 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 112
Progressive hearing impairment OMIM:618257
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 73
Hearing impairment OMIM:617663
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Dominant 74
Hearing impairment OMIM:618140
Deafness, Autosomal Recessive 74
Hearing impairment OMIM:613718
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, With Or Without Adult-Onset Neurodegeneration
Hearing impairment OMIM:614934
Deafness, Autosomal Recessive 18B
Hearing impairment OMIM:614945
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
Vestibular dysfunction, Hearing impairment OMIM:612645
Deafness, Autosomal Recessive 84A
Vestibular dysfunction, Hearing impairment OMIM:613391
Deafness, Autosomal Dominant 65
Progressive hearing impairment, Vestibular dysfunction OMIM:616044
Charcot-Marie-Tooth Disease, Axonal, Type 2V
Paresthesia, Distal sensory impairment, Sensory ataxia OMIM:616491
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... OMIM:600791
Deafness, Autosomal Recessive 25
Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements, Involuntary movements, Chorea OMIM:616939
Deafness, Autosomal Recessive 30
Progressive sensorineural hearing impairment, Progressive hearing impairment OMIM:607101
Deafness, Autosomal Recessive 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Sensorineural hearing impairment, Hearing impairment OMIM:603098
Deafness, Autosomal Recessive 29
Sensorineural hearing impairment, Hearing impairment OMIM:614035
Deafness, Autosomal Recessive 57
Sensorineural hearing impairment, Hearing impairment OMIM:618003
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hearing impairment OMIM:615266
Usher Syndrome, Type Id
Vestibular dysfunction, Hearing impairment OMIM:601067
Deafness, X-Linked 4
High-frequency hearing impairment, Sensorineural hearing impairment OMIM:300066
Deafness, Mid-Tone Neural
Progressive hearing impairment, Sensorineural hearing impairment OMIM:124700
Deafness, Autosomal Dominant 49
Progressive hearing impairment, Sensorineural hearing impairment OMIM:608372
Facial Paresis, Hereditary Congenital, 2
Hearing impairment OMIM:604185
Keratoderma, Palmoplantar, With Deafness
Hearing impairment OMIM:148350
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Absence of acoustic reflex, Sensorineural hearing impairment, Abnormal auditory evoked potentials... OMIM:609129
Fibromatosis, Gingival, 1
Hearing impairment OMIM:135300
Deafness, Autosomal Recessive 110
Sensorineural hearing impairment, Vestibular dysfunction OMIM:618094
Deafness, Autosomal Recessive 1A
Sensorineural hearing impairment, Vestibular dysfunction OMIM:220290
Deafness, Autosomal Dominant 81
Sensorineural hearing impairment, Vestibular dysfunction OMIM:619500
Deafness, Autosomal Dominant 71
Sensorineural hearing impairment, Vestibular dysfunction OMIM:617605
Deafness, Autosomal Recessive 7
Vestibular dysfunction, Sensorineural hearing impairment OMIM:600974
Deafness, Autosomal Recessive 94
Vestibular dysfunction, Bilateral sensorineural hearing impairment OMIM:618434
Deafness, Autosomal Recessive 8
Sensorineural hearing impairment OMIM:601072
Deafness, Autosomal Recessive 26
Sensorineural hearing impairment OMIM:605428
Deafness, Autosomal Recessive 77
Bilateral sensorineural hearing impairment OMIM:613079
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 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 35
Sensorineural hearing impairment OMIM:608565
Deafness, Autosomal Dominant 66
Sensorineural hearing impairment OMIM:616969
Deafness, Autosomal Dominant 70
Progressive sensorineural hearing impairment OMIM:616968
Deafness, Autosomal Dominant 22
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:606346
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, Autosomal Recessive 28
Severe sensorineural hearing impairment OMIM:609823
Deafness, Autosomal Recessive 12
Prelingual sensorineural hearing impairment OMIM:601386
Deafness, Autosomal Dominant 10
Sensorineural hearing impairment OMIM:601316
Deafness, Autosomal Recessive 31
Sensorineural hearing impairment OMIM:607084
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Recessive 15
Prelingual sensorineural hearing impairment, 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 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 Dominant 6
Progressive sensorineural hearing impairment, Low-frequency sensorineural hearing impairment OMIM:600965
Intellectual Developmental Disorder, X-Linked 46
Sensorineural hearing impairment OMIM:300436
Deafness, Autosomal Recessive 76
Progressive sensorineural hearing impairment OMIM:615540
Deafness, Autosomal Recessive 53
Sensorineural hearing impairment OMIM:609706
Deafness, Autosomal Recessive 85
Prelingual sensorineural hearing impairment OMIM:613392
Deafness, X-Linked 3
Congenital sensorineural hearing impairment OMIM:300030
Deafness, Autosomal Dominant 40
Sensorineural hearing impairment OMIM:616357
Deafness, Autosomal Dominant 37
Sensorineural hearing impairment OMIM:618533
Deafness, Autosomal Recessive 111
Progressive sensorineural hearing impairment OMIM:618145
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 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 Dominant 21
Sensorineural hearing impairment OMIM:607017
Deafness, Autosomal Recessive 49
Prelingual sensorineural hearing impairment OMIM:610153
Deafness, Autosomal Recessive 44
Prelingual sensorineural hearing impairment OMIM:610154
Deafness, Autosomal Dominant 68
Sensorineural hearing impairment OMIM:616707
Deafness, Autosomal Recessive 17
Sensorineural hearing impairment OMIM:603010
Deafness, Autosomal Recessive 97
Sensorineural hearing impairment OMIM:616705
Deafness, Autosomal Recessive 83
Prelingual sensorineural hearing impairment OMIM:613685
Deafness, Autosomal Recessive 24
Profound sensorineural hearing impairment OMIM:611022
Deafness, Autosomal Recessive 46
Profound sensorineural hearing impairment OMIM:609647
Deafness, Autosomal Recessive 42
Sensorineural hearing impairment OMIM:609646
Deafness, Autosomal Dominant 44
Sensorineural hearing impairment OMIM:607453
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment OMIM:618915
Deafness, Neural, Congenital Moderate
Sensorineural hearing impairment OMIM:221500
Deafness, X-Linked 1
Sensorineural hearing impairment OMIM:304500
Deafness, Autosomal Dominant 69
Sensorineural hearing impairment OMIM:616697
Deafness, Autosomal Recessive 113
Sensorineural hearing impairment OMIM:618410
Neuropathy, Hereditary Motor And Sensory, With Deafness, Mental Retardation, And Absent Sensory Large Myelinated Fibers
Sensorineural hearing impairment OMIM:214370
Deafness, Autosomal Recessive 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 3A
Sensorineural hearing impairment OMIM:601544
Deafness, Autosomal Dominant 48
Sensorineural hearing impairment OMIM:607841
Deafness, Autosomal Dominant 12
Sensorineural hearing impairment OMIM:601543
Deafness, Autosomal Recessive 16
Sensorineural hearing impairment OMIM:603720
Deafness, Autosomal Recessive 100
Sensorineural hearing impairment OMIM:618422
Deafness, Autosomal Recessive 40
Prelingual sensorineural hearing impairment OMIM:608264
Deafness, Autosomal Recessive 39
Prelingual sensorineural hearing impairment OMIM:608265
Deafness, Autosomal Recessive 98
Sensorineural hearing impairment OMIM:614861
Deafness, Autosomal Recessive 38
Prelingual sensorineural hearing impairment OMIM:608219
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533
Deafness, Autosomal Dominant 47
Sensorineural hearing impairment OMIM:608652
Deafness, Autosomal Dominant 31
Old-aged sensorineural hearing impairment OMIM:608645
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 Dominant 25
Sensorineural hearing impairment OMIM:605583
Deafness, Autosomal Recessive 51
Sensorineural hearing impairment OMIM:609941
Deafness, Autosomal Recessive 2
Vestibular dysfunction, Sensorineural hearing impairment, Vertigo OMIM:600060
Deafness, Autosomal Dominant 11
Vestibular dysfunction, Bilateral sensorineural hearing impairment, Vertigo OMIM:601317
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Spastic Paraplegia 24, Autosomal Recessive
Spasticity, Spastic paraplegia, Clonus, Tip-toe gait OMIM:607584
Deafness-Oligodontia Syndrome
Sensorineural hearing impairment, Abnormality of the inner ear, Vertigo ORPHA:3230
Posterior Column Ataxia
Ataxia, Impaired proprioception, Impaired vibratory sensation OMIM:176250
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Cochlear aplasia... OMIM:619274
Primary Dystonia, Dyt13 Type
Torsion dystonia, Action tremor, Dystonia, Focal dystonia, Motor stereotypy, Generalized dystonia... ORPHA:98807
Cochleosaccular Degeneration With Progressive Cataracts
Hearing impairment OMIM:120040
Autosomal Recessive Spastic Paraplegia Type 24
Sensorineural hearing impairment, Spastic paraplegia, Clonus, Scissor gait, Spasticity, Tip-toe gait ORPHA:101004
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Ataxia, Torticollis ORPHA:71518
Opticocochleodentate Degeneration
Spastic tetraplegia, Cochlear degeneration, Optic atrophy, Hearing impairment OMIM:258700
Atypical Pantothenate Kinase-Associated Neurodegeneration
Violent behavior, Focal dystonia, Inertia, Dysphagia, Depression, Tremor, Frequent falls, Upper m... ORPHA:216873
Early-Onset Generalized Limb-Onset Dystonia
Hypertonia, Gait disturbance ORPHA:256
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Autism, Susceptibility To, X-Linked 4
Motor tics, Attention deficit hyperactivity disorder OMIM:300830
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic gait, Spastic dysarthria, Spastic paraplegia, Tremor, Lower limb spasticity, ... ORPHA:251282
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Episodic Ataxia Type 4
Abnormal head movements, Frequent falls, Ataxia, Incoordination ORPHA:79136
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Progressive hearing impairment, Sensorineural hearing impairment, Low-frequency hearing loss OMIM:124900
Episodic Kinesigenic Dyskinesia 2
Paroxysmal dyskinesia, Involuntary movements, Dystonia, Chorea OMIM:611031
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration, Ataxia ORPHA:3233
Myoclonus, Cerebellar Ataxia, And Deafness
Hearing impairment, Ataxia, Myoclonus OMIM:159800
Gilles De La Tourette Syndrome
Motor tics, Phonic tics, Attention deficit hyperactivity disorder OMIM:137580
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Ataxia, Hearing impairment OMIM:271250
Huntington Disease
Degeneration of the striatum, Dystonia, Aggressive behavior, Apathy, Clonus, Decreased body mass ... ORPHA:399
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Striatonigral Degeneration, Infantile
Dystonia, Choreoathetosis, Failure to thrive, Spasticity, Dysphagia, Optic atrophy OMIM:271930
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Dystonia, Involuntary movements, Ataxia, Craniofacial dystonia, Spasticity, Chorea, Dysphagia, Ga... OMIM:617282
Meniere Disease
Tinnitus, Vertigo, Hearing impairment OMIM:156000
Deafness, Autosomal Dominant 41
Progressive sensorineural hearing impairment, Tinnitus, Hearing impairment OMIM:608224
Dystonia 31
Parkinsonism, Generalized dystonia, Leg dystonia, Craniofacial dystonia, Abnormal posturing, Writ... OMIM:619565
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Deafness, Autosomal Recessive 37
Vestibular dysfunction, Sensorineural hearing impairment, Congenital stationary night blindness, ... OMIM:607821
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Vestibular dysfunction, Ankle clonus, Abnormal py... ORPHA:52368
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Deafness, Autosomal Dominant 58
Tinnitus, Hearing impairment OMIM:615654
Spinocerebellar Ataxia 17
Dystonia, Aggressive behavior, Diffuse cerebral atrophy, Dysphagia, Depression, Positive Romberg ... OMIM:607136
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebral atrophy, Cerebellar atrophy, Frequent falls, Gliosis, Gait ataxia, Spasticity, Dysphagia... OMIM:618369
Huntington Disease-Like 3
Abnormal pyramidal sign, Extrapyramidal dyskinesia, Extrapyramidal muscular rigidity, Spasticity,... ORPHA:157946
Deafness, Autosomal Dominant 9
Tinnitus, Cochlear degeneration, Abnormality of the vestibulocochlear nerve, Postlingual sensorin... OMIM:601369
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Parkinsonism, Dystonia, Anxiety, Inappropriate behavior, Ataxia, Upper motor neuron dysfunction, ... ORPHA:401901
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy, Ataxia OMIM:136600
Deafness, Autosomal Dominant 50
Progressive hearing impairment, Sensorineural hearing impairment, Progressive sensorineural heari... OMIM:613074
Ocular Motor Apraxia
Oculomotor apraxia, Jerky head movements OMIM:257550
Frontotemporal Dementia With Motor Neuron Disease
Tetraparesis, Abnormal lower motor neuron morphology, Parkinsonism, Disinhibition, Apraxia, Globa... ORPHA:275872
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Inability to walk, Tremor OMIM:619561
Salt And Pepper Developmental Regression Syndrome
Choreoathetosis, Global brain atrophy, Failure to thrive, Irritability, Myoclonus, Optic atrophy,... OMIM:609056
Spinocerebellar Ataxia 48
Cerebellar atrophy, Dysmetria, Parkinsonism, Dystonia, Anxiety, Ataxia, Gait ataxia, Irritability... OMIM:618093
Hsd10 Disease
Choreoathetosis, Hearing impairment, Spastic paraparesis, Ataxia, Rigidity, Dysphagia, Gait distu... ORPHA:391417
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal pyramidal sign, Progressive cerebellar ataxia, Limb ataxia, Abnormal head movements, Pro... ORPHA:247815
Retinitis Pigmentosa 36
Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ret... OMIM:610599
Familial Infantile Bilateral Striatal Necrosis
Spastic tetraparesis, Dystonia, Loss of ability to walk, Atrophy/Degeneration involving the cauda... ORPHA:225154
Huntington Disease-Like 1
Incoordination, Dysmetria, Basal ganglia gliosis, Global brain atrophy, Anxiety, Aggressive behav... OMIM:603218
Deafness, X-Linked 2
Conductive hearing impairment, Progressive sensorineural hearing impairment, Congenital sensorine... OMIM:304400
Autosomal Recessive Spastic Paraplegia Type 27
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Spastic paraple... ORPHA:101007
Immunodeficiency 8
Hyperactivity OMIM:615401
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Dystonia, Myoclonus, Tremor OMIM:611092
Intellectual Developmental Disorder, Autosomal Recessive 58
Choreoathetosis, Pica, Self-injurious behavior, Aggressive behavior, Short stature, Spastic diplegia OMIM:617270
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Spasticity OMIM:615493
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Progressive sensorineural hearing impairment, Cochlear degeneration, Ataxia, Slowed slurred speech OMIM:172500
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, EEG abnormality, Low-set ears ORPHA:436151
Juvenile Huntington Disease
Cerebellar atrophy, Dystonia, Cerebellar vermis atrophy, Hyperactivity, Bradykinesia, Ataxia, Pro... ORPHA:248111
Spinocerebellar Ataxia 7
Dysmetria, Progressive cerebellar ataxia, Pigmentary retinopathy, Spasticity, Macular degeneratio... OMIM:164500
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Spasticity, Ataxia, Tremor OMIM:614307
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Bilateral sensorineural hearing impairment, Male infertility, Reduced s... OMIM:611102
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Hereditary Geniospasm
Chin myoclonus, Abnormal social behavior ORPHA:53372
Myoclonus, Familial, 1
Frequent falls, Falls, Ataxia, Myoclonus OMIM:614937
Spinocerebellar Ataxia, Autosomal Recessive 29
Generalized dystonia, Inability to walk, Lower limb spasticity, Ataxia, Retinal pigment epithelia... OMIM:619389
Neurodegeneration With Brain Iron Accumulation
Cerebellar atrophy, Dystonia, Rigidity, Spasticity, Chorea, Abnormality of extrapyramidal motor f... ORPHA:385
Pyruvate Dehydrogenase E2 Deficiency
Choreoathetosis, Oculomotor apraxia, Ataxia, Jerky head movements OMIM:245348
Progressive Supranuclear Palsy-Corticobasal Syndrome
Abnormal pyramidal sign, Frequent falls, Apraxia, Involuntary movements, Bradykinesia, Limb aprax... ORPHA:240103
Deafness, Congenital, And Familial Myoclonic Epilepsy
Hearing impairment, Myoclonus OMIM:220300
Huntington Disease-Like 1
Incoordination, Simultanapraxia, Dysmetria, Frequent falls, Involuntary movements, Bradykinesia, ... ORPHA:157941
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Spastic tetraplegia, Optic nerve hypoplasia, Inability to walk, Short stature, Failure to thrive,... OMIM:617864
Fraxe Intellectual Disability
Intrauterine growth retardation, Prominent ear helix, Hyperactivity, Aggressive behavior, Recurre... ORPHA:100973
Huntington Disease-Like 2
Parkinsonism, Caudate atrophy, Dystonia, Involuntary movements, Cerebral cortical atrophy, Chorea... ORPHA:98934
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Dystonia, Choreoathetosis, Ataxia, Short stature, Rigidity, Spasticity, Optic... OMIM:612438
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Babinski sign, Spastic tetraplegia OMIM:616657
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Hyperactivity, Poor coordination, Recurrent hand flapping OMIM:309548
Tremor, Hereditary Essential, 5
Kinetic tremor, Postural tremor, Tongue tremor, Intention tremor OMIM:616736
Tremor, Hereditary Essential, 6
Kinetic tremor, Head tremor, Vocal tremor, Postural tremor OMIM:618866
Paroxysmal Exertion-Induced Dyskinesia
Torsion dystonia, Dystonia, Choreoathetosis, Paroxysmal dyskinesia, Involuntary movements, Lower ... ORPHA:98811
Non-Syndromic Genetic Deafness
High-frequency hearing impairment, Abnormal speech discrimination, Low-frequency sensorineural he... ORPHA:87884
Liberfarb Syndrome
Retinal degeneration, Sensorineural hearing impairment, Retinal pigment epithelial mottling, Opti... OMIM:618889
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Somatic sensory dysfunction, Parkinsonism, Shuffling gait, Apraxia, Global brain atrophy, Bradyki... OMIM:221820
Inherited Creutzfeldt-Jakob Disease
Global brain atrophy, Progressive cerebellar ataxia, Apathy, Depression, Tremor, Central nervous ... ORPHA:282166
Usher Syndrome, Type I
Absent vestibular function, Sensorineural hearing impairment, Rod-cone dystrophy OMIM:276900
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Impaired social interactions, Stereotypical hand wringing, Hyperkinetic movements, Macrotia ORPHA:397933
Pelizaeus-Merzbacher Disease
Dystonia, Cerebellar vermis atrophy, Global brain atrophy, Spastic paraplegia, Apathy, Dysphagia,... OMIM:312080
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Spasticity ORPHA:356996
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, EEG abnormality, Ataxia, Pigmentary retinopathy, Optic atrophy OMIM:610951
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Ataxia ORPHA:2246
Huntington Disease-Like 2
Action tremor, Dystonia, Anxiety, Bradykinesia, Apathy, Irritability, Rigidity, Chorea, Depressio... OMIM:606438
Schimke X-Linked Mental Retardation Syndrome
Growth delay, Spasticity, Choreoathetosis, Hearing impairment OMIM:312840
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity OMIM:601382
Spastic Ataxia 2, Autosomal Recessive
Frequent falls, Dysmetria, Fasciculations, Gait ataxia, Spasticity, Head titubation, Babinski sig... OMIM:611302
Spinocerebellar Ataxia, Autosomal Recessive 31
Cerebral atrophy, Dystonia, Choreoathetosis, Ataxia, Growth delay, Bilateral sensorineural hearin... OMIM:619422
Ravine Syndrome
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem, Spasticity, At... ORPHA:99852
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral atrophy, Abnormal pyramidal sign, Parkinsonism, Cerebellar atrophy, Decreased body weigh... OMIM:617672
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Ataxia, Pigmentary retinopathy, Gait disturbance ORPHA:1178
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Ataxia, Progressive extrapyramidal movement disorder, Abnormal head movements, Chorea,... ORPHA:382
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Parkinsonism with favorable response to dopaminergic medication, Myoclo... OMIM:314250
Paroxysmal Non-Kinesigenic Dyskinesia
Dystonia, Choreoathetosis, Paroxysmal dyskinesia, Involuntary movements, Rigidity, Chorea, Tortic... ORPHA:98810
Chromosome Xq21 Deletion Syndrome
Incomplete partition of the cochlea, Conductive hearing impairment, Chorioretinal degeneration, P... OMIM:303110
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Sensorineural hearing impairment, Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Cerebral atrophy, Cerebellar atrophy, Dystonia, Low-set ears, Involuntary movements, Inability to... OMIM:617804
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Dysmetria, Ataxia, Unsteady gait, Gait ataxia, Short stature, Spasticity, Gliosis... OMIM:213200
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Choreoathetosis, Tremor, Irritability, Dysphagia, Myoclonus, Hypertonia OMIM:261630
Pick Disease Of Brain
Disinhibition, Gliosis, Emotional blunting, Inappropriate laughter, Apathy, Irritability, Polypha... OMIM:172700
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Cochlear degeneration, Spastic dysarthria, Head tremor, Spinocerebellar atrophy, Gait ataxia, Pro... ORPHA:95433
Huntington Disease
Cerebellar atrophy, Bradykinesia, Gait ataxia, Rigidity, Chorea, Gliosis, Neuronal loss in centra... OMIM:143100
Early-Onset X-Linked Optic Atrophy
Choreoathetosis, Intention tremor, Decreased nerve conduction velocity, Gait ataxia, Emotional la... ORPHA:98890
Pandas
Abnormal fear/anxiety-related behavior, Emotional lability, Tics, Separation insecurity, Irritabi... ORPHA:66624
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Frequent falls, Unsteady gait, Chorea, Hyperkinetic movements, Tremor OMIM:616921
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Dysdiadochokinesis, Sensorineural hearing impairment, Cogwheel rigid... ORPHA:363710
Striatonigral Degeneration, Infantile, Mitochondrial
Incoordination, Paroxysmal choreoathetosis, Frequent falls, Poor motor coordination, Clonus, Chor... OMIM:500003
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Emotional lability, Dysphagia, Chorea, Gait disturbance OMIM:607674
Spinocerebellar Ataxia Type 1
Abnormality of somatosensory evoked potentials, Atrophy/Degeneration affecting the brainstem, Cer... ORPHA:98755
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Frequent falls, Unsteady gait, Chorea, Tremor ORPHA:494526
Frontotemporal Dementia
Parkinsonism, Disinhibition, Inappropriate laughter, Apathy, Irritability, Inappropriate sexual b... OMIM:600274
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Xylosidase Deficiency
Choreoathetosis, Hearing impairment OMIM:278900
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Anxiety, Overweight, Short stature, Self-mutilation, Macrotia, Gait disturbance... ORPHA:457240
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Somatic sensory dysfunction, Sensorineural hearin... ORPHA:320401
Hyperreflexia
Abnormality of retinal pigmentation, Ankle clonus OMIM:145290
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy, Spasticity, Babinski sign, Waddling gait, Hearing impairment OMIM:619090
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Action tremor, Parkinsonism, Dystonia, Global brain atrophy, Anxiety, Tremor,... OMIM:619738
Hyperphenylalaninemia, Bh4-Deficient, A
Parkinsonism, Dystonia, Choreoathetosis, Small for gestational age, Bradykinesia, Tremor, Ataxia,... OMIM:261640
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation, Ataxia ORPHA:2579
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Paroxysmal dyskinesia, Ataxia, Poor coordination, Aggressive behavior, Inappropriate la... OMIM:619150
Basal Ganglia Calcification, Idiopathic, 5
Parkinsonism, Anxiety, Athetosis, Apathy, Chorea, Motor tics, Depression, Vertigo OMIM:615483
Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal choreoathetosis, Paroxysmal dystonia, Dysphagia, Torticollis OMIM:118800
Chorea, Benign Hereditary
Chorea, Gait disturbance OMIM:118700
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Cerebral atrophy, Abnormal pyramidal sign, Dystonia, Impaired pain sensation, Hyperactivity, Inab... ORPHA:500180
Intellectual Developmental Disorder, X-Linked 12
Small for gestational age, Sensorineural hearing impairment, Anxiety, Truncal obesity, Short stat... OMIM:300957
Autosomal Recessive Non-Syndromic Intellectual Disability
Cerebral atrophy, Dystonia, Motor stereotypy, Hyperactivity, Spasticity, Chorea, Depression, Impu... ORPHA:88616
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Cerebral atrophy, Dystonia, Oculogyric crisis, Self-injurious behavior, Inability to walk, Spasti... OMIM:614254
Usher Syndrome Type 1
Sensorineural hearing impairment, Ataxia, Vestibular hypofunction, Cerebral cortical atrophy, Abn... ORPHA:231169
Choroideremia
Hypopigmentation of the fundus, Chorioretinal degeneration, Pigmentary retinopathy, Retinal pigme... OMIM:303100
Infantile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Myoclonic spasms, Dystonia, Ataxia, Unsteady gai... ORPHA:79263
Folinic Acid-Responsive Seizures
Spastic tetraparesis, Cerebellar atrophy, Dystonia, Sensorineural hearing impairment, Ataxia, Irr... ORPHA:79097
3-Methylglutaconic Aciduria, Type Iii
Ataxia, Spasticity, Chorea, Babinski sign, Abnormality of extrapyramidal motor function, Optic at... OMIM:258501
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Stereotypical hand wringing, Inability to walk, Chorea OMIM:618760
Hyperekplexia 3
Hypertonia, Exaggerated startle response OMIM:614618
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Poor fine motor coordination, Attention deficit hyperactivity disorder OMIM:617182
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Ataxia, Chorea, Torticollis, Hyperkinetic movements, Tremor OMIM:618425
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Choreoathetosis, Sensorineural hearing impairment, Dysphagia, Facial palsy, Absent brainstem audi... OMIM:617519
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Spinocerebellar Ataxia, X-Linked 3
Incoordination, Cerebellar atrophy, Dysmetria, Intention tremor, Sensorineural hearing impairment... OMIM:301790
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Childhood-Onset Benign Chorea With Striatal Involvement
Anxiety, Parkinsonism with favorable response to dopaminergic medication, Chorea ORPHA:494541
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Abnormal pyramidal sign, Dysmetria, Parkinsonism, Dystonia, Bradykinesia, Ataxia, Chorea, Dysphagia OMIM:618317
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Deafness-Infertility Syndrome
Azoospermia, Sensorineural hearing impairment, Male infertility ORPHA:94064
Basal Ganglia Calcification, Idiopathic, 6
Involuntary movements, Parkinsonism, Depression, Choreoathetosis OMIM:616413
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Pontocerebellar Hypoplasia, Type 2D
Cerebral atrophy, Cerebellar atrophy, Spastic tetraplegia, Irritability, Clonus, Chorea OMIM:613811
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Hyperactivity, Ataxia, Spasticity, Myoclonus, Tremor OMIM:615924
Friedreich Ataxia
Dysmetria, Dystonia, Impaired proprioception, Cervical spinal cord atrophy, Intention tremor, Ina... ORPHA:95
Deafness, Autosomal Dominant 36
Tinnitus, Sensorineural hearing impairment OMIM:606705
Deafness, Autosomal Dominant 43
Tinnitus, Sensorineural hearing impairment OMIM:608394
Deafness, Autosomal Dominant 33
Tinnitus, Sensorineural hearing impairment OMIM:614211
Deafness, Autosomal Dominant 64
Tinnitus, Sensorineural hearing impairment OMIM:614152
Deafness, Autosomal Dominant 67
Tinnitus, Sensorineural hearing impairment OMIM:616340
Deafness, Autosomal Dominant 72
Tinnitus, Sensorineural hearing impairment OMIM:617606
Deafness, Y-Linked 1
Tinnitus, Sensorineural hearing impairment OMIM:400043
Sinoatrial Node Dysfunction And Deafness
Hearing impairment OMIM:614896
Dentatorubral-Pallidoluysian Atrophy
Abnormal pyramidal sign, Choreoathetosis, Ataxia, Chorea, Myoclonus OMIM:125370
Alternating Hemiplegia Of Childhood 2
Dystonia, Choreoathetosis, Ataxia, Episodic quadriplegia, Tetraplegia, Hemiplegia OMIM:614820
Neurodegeneration With Brain Iron Accumulation 3
Parkinsonism, Dystonia, Choreoathetosis, Disinhibition, Blepharospasm, Bradykinesia, Ataxia, Emot... OMIM:606159
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal pigment epithelial atrophy, Subretinal deposits, Abnormal fundus autofluorescence imaging... ORPHA:59181
Pendred Syndrome
Sensorineural hearing impairment, Hypoplasia of the cochlea, Abnormality of the inner ear, Enlarg... ORPHA:705
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Paralysis Agitans, Juvenile, Of Hunt
Parkinsonism, Bradykinesia, Rigidity, Gait disturbance, Tremor OMIM:168100
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Ataxia, Vestibular hypofunction ORPHA:231183
Deafness, Autosomal Dominant 16
Tinnitus, Adult onset sensorineural hearing impairment OMIM:603964
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Loss of ability to walk, Ataxia, Unsteady gait, Tremor OMIM:617917
Combined Oxidative Phosphorylation Deficiency 13
Dystonia, Choreoathetosis, Sensorineural hearing impairment, Growth delay, Decreased nerve conduc... OMIM:614932
Spinocerebellar Ataxia 40
Dysmetria, Intention tremor, Spastic paraparesis, Unsteady gait, Dysdiadochokinesis, Broad-based ... OMIM:616053
Leigh Syndrome
Dystonia, Sensorineural hearing impairment, Ataxia, Emotional lability, Failure to thrive, Spasti... OMIM:256000
Developmental And Epileptic Encephalopathy 37
Cerebral atrophy, Cerebellar atrophy, Choreoathetosis, Rigidity, Spasticity, Gait disturbance, Hy... OMIM:616981
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Ataxia, Spasticity, Myoclonus, Hypertonia OMIM:618426
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Retinitis Pigmentosa 30
Optic atrophy, Rod-cone dystrophy, Chorioretinal atrophy, Bone spicule pigmentation of the retina... OMIM:607921
Combined Oxidative Phosphorylation Deficiency 14
Cerebral atrophy, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Growth delay,... OMIM:614946
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Cerebral atrophy, Caudate atrophy, Disinhibition, Apraxia, Inappropriate behavior, Aggressive beh... OMIM:221770
Familial Drusen
Macular hyperpigmentation, Subretinal fluid, Abnormality of retinal pigmentation, Reticular pigme... ORPHA:75376
Classic Glucose Transporter Type 1 Deficiency Syndrome
Paralysis, Extrapyramidal dyskinesia, Choreoathetosis, Dystonia, Apraxia, Ataxia, Spasticity, Hem... ORPHA:71277
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Parkinsonism, Resting tremor, Choreoathetosis, Spastic tetraplegia, Apraxia, Dyston... OMIM:300055
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Disinhibition, Astrocytosis, Fasciculations, Inappropriate behavior, Emotional ... ORPHA:275864
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Central Areolar Choroidal Dystrophy
Hypopigmentation of the fundus, Full-thickness macular hole, Retinal pigment epithelial mottling,... ORPHA:75377
Spastic Tetraplegia And Axial Hypotonia, Progressive
Abnormal pyramidal sign, Spastic tetraparesis, Hypertonia, Fasciculations, Lower limb spasticity,... OMIM:618598
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinopathy, Retinal pigment epithelial mottling, Ataxia, Rod-cone dystrophy OMIM:551500
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Ataxia OMIM:616949
Developmental And Epileptic Encephalopathy 1
Abnormal pyramidal sign, Spastic tetraparesis, Dystonia, Choreoathetosis, Global brain atrophy, G... OMIM:308350
Sydenham Chorea
Hemiballismus, Inappropriate behavior, Unsteady gait, Emotional lability, Irritability, Chorea ORPHA:306731
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Tetraparesis, Cerebral atrophy, Abnormal lower motor neuron morphology, Extrapyramidal dyskinesia... OMIM:105550
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Pyruvate Carboxylase Deficiency
Hypernatremia, Abnormal pyramidal sign, Hypertaurinemia, Dystonia, Hyperlysinemia, Hyperprolinemi... ORPHA:3008
Leukoencephalopathy With Vanishing White Matter
Primary amenorrhea, Unsteady gait, Secondary amenorrhea, Emotional lability, Spasticity, Gait dis... OMIM:603896
Baker-Gordon Syndrome
Dystonia, Choreoathetosis, Self-injurious behavior, Involuntary movements, Inability to walk, Ata... OMIM:618218
Jaberi-Elahi Syndrome
Cerebellar atrophy, Dysmetria, Dystonia, Choreoathetosis, Low-set ears, Inability to walk, Gait a... OMIM:617988
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Choreoathetosis, Familial Inverted
Gait disturbance, Abnormal pyramidal sign, Rigidity, Progressive choreoathetosis OMIM:118750
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Irritability, Dystonia, Spasticity, Choreoathetosis OMIM:614249
Spinocerebellar Ataxia Type 2
Kinetic tremor, Parkinsonism, Dystonia, Fasciculations, Progressive cerebellar ataxia, Gait ataxi... ORPHA:98756
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Cerebral atrophy, Dystonia, Choreoathetosis, Inability to walk, Hyperkinetic movements, Myoclonus OMIM:618497
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Opisthotonus, Choreoathetosis, Dystonia, Oculogyric crisis, Bradykinesia, Ataxia, Rigidity, Clonu... ORPHA:13
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Hyperactivity, Ataxia, Growth delay, Aggressive behavior, Spasticity, ... OMIM:612716
Retinitis Pigmentosa 32
Retinal degeneration, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pa... OMIM:609913
Machado-Joseph Disease
Cerebellar atrophy, Parkinsonism, Dystonia, Impaired vibratory sensation, Fasciculations, Bradyki... OMIM:109150
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Autonomic bladder dysfunction, Ataxia, Impotence, Spasticity, Autonomic erectile dysfunction, Cor... OMIM:169500
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:610359
Hsd10 Mitochondrial Disease
Choreoathetosis, Spastic tetraplegia, Sensorineural hearing impairment, Aggressive behavior, Spas... OMIM:300438
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Developmental And Epileptic Encephalopathy 14
Tetraplegia, Spasticity, Clonus, Cerebral cortical atrophy, Gliosis, Neuronal loss in central ner... OMIM:614959
Pettigrew Syndrome
High-frequency hearing impairment, Choreoathetosis, Sensorineural hearing impairment, Self-injuri... OMIM:304340
Alternating Hemiplegia Of Childhood 1
Dystonia, Choreoathetosis, Episodic hemiplegia, Episodic quadriplegia, Tetraplegia OMIM:104290
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity OMIM:617796
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Progressive spastic paraplegia, Hyporeflective spaces on macular OCT, Central retinal vessel vasc... ORPHA:506353
Pendred Syndrome
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Chronic Bilirubin Encephalopathy
Hypernatremia, Cerebral palsy, Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypertonia ORPHA:529808
Acute Bilirubin Encephalopathy
Cerebral palsy, Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia, Hypertonia ORPHA:529799
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Degeneration of anterior horn cells, Axonal degeneration, Distal sen... OMIM:604484
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Rigidity, Hyperactivity, Dysmetria, Tremor OMIM:618090
Developmental And Epileptic Encephalopathy 8
Hypertonia, Exaggerated startle response OMIM:300607
Foxg1 Syndrome
Decreased body weight, Dystonia, Choreoathetosis, Severe postnatal growth retardation, Motor ster... ORPHA:561854
Autosomal Dominant Cerebellar Ataxia
Action tremor, Dystonia, Progressive cerebellar ataxia, Paraparesis, Abnormality of extrapyramida... ORPHA:99
Neurodegeneration With Brain Iron Accumulation 2B
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Dystonia, Neurodegeneration, Intention tremor, H... OMIM:610217
Christianson Syndrome
Cerebellar atrophy, Dystonia, Motor stereotypy, Conspicuously happy disposition, Inappropriate la... ORPHA:85278
Mitochondrial Complex I Deficiency, Nuclear Type 26
Cerebral atrophy, Cerebellar atrophy, Dystonia, Choreoathetosis, Limb hypertonia, Dysphagia, Hear... OMIM:618247
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Dystonia, Choreoathetosis, Ataxia, Spasticity, C... OMIM:618088
Chromosome 3Q29 Deletion Syndrome
Small for gestational age, Low-set ears, Anxiety, Hyperactivity, Aggressive behavior, Gait ataxia... OMIM:609425
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation, Hemiplegia/hemiparesis, Ataxia, Hearing impairment ORPHA:480
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation, Spastic paraplegia OMIM:236130
Neurodegeneration With Brain Iron Accumulation 2A
Cerebral atrophy, Abnormal pyramidal sign, Cerebellar atrophy, Spastic tetraplegia, Ataxia, Decre... OMIM:256600
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:608747
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Retinal atrophy, Pigmentary retinopathy, Retinal dystrophy, Bone spicule pigmentatio... OMIM:180210
Otosclerosis 7
Progressive hearing impairment, Childhood onset sensorineural hearing impairment, Conductive hear... OMIM:611572
Neuroleptic Malignant Syndrome
Hyponatremia, Oculogyric crisis, Extrapyramidal muscular rigidity, Hypocalcemia, Hyperkalemia, Hy... ORPHA:94093
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Spasti... OMIM:125250
Branchiootic Syndrome 1
Cupped ear, Low-set ears, Sensorineural hearing impairment, Microtia, Cochlear malformation, Mixe... OMIM:602588
L-2-Hydroxyglutaric Aciduria
Abnormal pyramidal sign, Spastic tetraparesis, Cerebellar atrophy, Global brain atrophy, Corpus c... OMIM:236792
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Resting tremor, Involuntary movements, Ataxia, Progressive extrapyramidal movement diso... ORPHA:401768
Leukodystrophy, Hypomyelinating, 2
Cerebral atrophy, Dystonia, Choreoathetosis, Intention tremor, Spastic paraparesis, Ataxia, Decre... OMIM:608804
Subacute Inflammatory Demyelinating Polyneuropathy
Abnormality of somatosensory evoked potentials, Frequent falls, Somatic sensory dysfunction, Chor... ORPHA:206594
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Dystonia, Spasticity, Chorea OMIM:613970
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Axonal degeneration, Decreased motor nerve conduction velocity... OMIM:601596
Dystonia With Ringbinden
Dystonia, Chorea, Gait disturbance OMIM:224550
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Myoclonic spasms, Abnormal autonomic nervous system physiology, Rigidity, Clonus, Gliosis, Neuron... OMIM:614498
Glutathione Synthetase Deficiency
Pigmentary retinopathy, Spastic tetraparesis, Ataxia, Intention tremor OMIM:266130
Intellectual Developmental Disorder, Autosomal Recessive 73
Low-set ears, Poor coordination, Recurrent hand flapping, Gait ataxia, Irritability, Posteriorly ... OMIM:619717
Mitochondrial Complex I Deficiency, Nuclear Type 16
Caudate atrophy, Choreoathetosis, Spastic tetraplegia, Intrauterine growth retardation, Dystonia,... OMIM:618238
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Tremor, Resting tremor, Gait disturbance OMIM:616710
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Developmental And Epileptic Encephalopathy 40
Spasticity, Choreoathetosis, Myoclonus, Cerebral cortical atrophy OMIM:617065
Mohr-Tranebjaerg Syndrome
Progressive sensorineural hearing impairment, Spasticity, Postlingual sensorineural hearing impai... OMIM:304700
6Q16 Microdeletion Syndrome
Low-set ears, Obesity, Microtia, Abnormal ear morphology, Poor coordination, Polyphagia, Broad-ba... ORPHA:171829
Sporadic Creutzfeldt-Jakob Disease
Cerebral atrophy, Abnormal pyramidal sign, Astrocytosis, Ataxia, Upper motor neuron dysfunction, ... ORPHA:204
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Tetraparesis, Abnormal pyramidal sign, Frequent falls, Action tremor, Opisthotonus, Dystonia, Ina... OMIM:607483
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Hyperactivity, Obesity, Ataxia, Inappropriate laughter, Polyphagia, Broad-based gait ORPHA:411515
Gm2 Gangliosidosis, Ab Variant
Cerebral atrophy, Abnormal pyramidal sign, Dystonia, Neurodegeneration, Anxiety, Inappropriate be... ORPHA:309246
Cataract-Ataxia-Deafness Syndrome
Adult onset sensorineural hearing impairment, Sensorineural hearing impairment, Tremor, Ataxia, D... ORPHA:1368
Spinocerebellar Ataxia Type 32
Progressive cerebellar ataxia, Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Narp Syndrome
Myoclonic spasms, Retinal arteriolar tortuosity, Ataxia, Retinal pigment epithelial mottling, Rod... ORPHA:644
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Parkinsonism, Dystonia, Resting tremor, Intention tremor, Anxiety, Bradykinesia, Ataxia, Panic at... OMIM:619725
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Conductive hearing impairment, Congenital stationary ... ORPHA:90646
2,4-Dienoyl-Coa Reductase Deficiency
Cerebral atrophy, Dystonia, Choreoathetosis, Failure to thrive, Tetraplegia, Spasticity OMIM:616034
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Retinal pigment epithelial atrophy, Macular dystrophy, ... OMIM:608051
Leber Congenital Amaurosis 2
Eye poking, Absent foveal reflex, Fundus atrophy, Pigmentary retinopathy, Optic disc pallor, Atte... OMIM:204100
Hereditary Late-Onset Parkinson Disease
Frequent falls, Parkinsonism, Resting tremor, Dystonia, Low frustration tolerance, Shuffling gait... ORPHA:411602
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Retinal dysplasia, Abnormal retinal vascular morphology ORPHA:1852
Glut1 Deficiency Syndrome 1
Paralysis, Choreoathetosis, Ataxia, Spasticity, Hemiparesis, Paroxysmal dystonia, Babinski sign, ... OMIM:606777
Episodic Kinesigenic Dyskinesia 1
Paroxysmal choreoathetosis, Paroxysmal dystonia OMIM:128200
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Anxiety, Hyperactivity, Lower limb spasticity, Aggressive behavior, Unst... ORPHA:485350
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Cerebellar atrophy, Cerebral atrophy, Hyperactivity OMIM:609924
Pontocerebellar Hypoplasia, Type 2C
Dystonia, Chorea OMIM:612390
Neurodevelopmental Disorder With Involuntary Movements
Cerebral atrophy, Dystonia, Self-injurious behavior, Involuntary movements, Athetosis, Spasticity... OMIM:617493
Hsd10 Disease, Infantile Type
Cerebral atrophy, Spastic tetraparesis, Dystonia, Choreoathetosis, Optic atrophy, Paroxysmal burs... ORPHA:391428
Peroxisomal Acyl-Coa Oxidase Deficiency
Dystonia, Low-set ears, Pigmentary retinopathy, Rod-cone dystrophy, Bilateral sensorineural heari... OMIM:264470
Spinocerebellar Ataxia 1