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Gene: Myo7a MGI:104510

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased lean body mass Myo7aHdb HOM Early adult 1.47×10-11
persistence of hyaloid vascular system Myo7atm1a(EUCOMM)Wtsi HOM Early adult 2.21×10-05
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
abnormal locomotor activation Myo7aHdb HOM Early adult 5.49×10-07
decreased bone mineral density Myo7aHdb HOM   Early adult 1.82×10-05
absent pinna reflex Myo7atm1a(EUCOMM)Wtsi HOM Early adult 1.05×10-18
increased thermal nociceptive threshold Myo7aHdb HOM Early adult 9.18×10-06
decreased body length Myo7aHdb HOM Early adult 5.57×10-07
abnormal behavior Myo7aHdb HOM   Early adult 2.55×10-05
abnormal bone mineralization Myo7aHdb HOM Early adult 1.80×10-11
decreased body weight Myo7aHdb HOM Early adult 4.31×10-34
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
impaired righting response Myo7atm1a(EUCOMM)Wtsi HOM Early adult 1.38×10-08
decreased lean body mass Myo7aHdb HOM Early adult 1.24×10-07
trunk curl Myo7atm1a(EUCOMM)Wtsi HOM Early adult 7.01×10-20
increased bone mineral content Myo7aHdb HOM Early adult 2.49×10-07

Download data as:  TSV  XLS

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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 Whole Body Dorso Ventral

15 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

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X-ray

XRay Images Forepaw

12 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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Legacy Phenotype Associated Images
Myo7aHdb
head, HOM, Female, WTSI
Myo7aHdb
head, HOM, Female, WTSI
Myo7aHdb
forearm, HOM, Female, WTSI
Myo7aHdb
body, HOM, Female, WTSI
Myo7aHdb
body, WT, Female, WTSI

View all 478 images

Myo7aHdb
tail skin, HOM, Female, WTSI
Myo7aHdb
tail skin, WT, Female, WTSI
Myo7aHdb
tail skin, WT, Female, WTSI
Myo7aHdb
tail skin, HOM, Female, WTSI
Myo7ash1-6J
abnormal sebaceous gland morphology, HET, Female, WTSI

View all 9 images

Myo7aHdb
eye, cataracts, HOM, Female, WTSI
Myo7aHdb
eye, cataracts, HOM, Female, WTSI
Myo7ash1-6J
eye, corneal opacity, HOM, Female, WTSI
Myo7atm1a(EUCOMM)Wtsi
persistence of hyaloid vascular system, HOM, Female, WTSI
Myo7atm1a(EUCOMM)Wtsi
right eye, HOM, Female, WTSI

View all 8 images

Myo7ash1-6J
back skin, HET, Female, WTSI
Myo7ash1-6J
back skin, HOM, Female, WTSI
Myo7ash1-6J
back skin, HOM, Female, WTSI
Myo7ash1-6J
back skin, HET, Female, WTSI
Myo7ash1-6J
back skin, HOM, Female, WTSI

View all 7 images

Myo7atm1a(EUCOMM)Wtsi
paw, HOM, Female, WTSI

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 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 65
Hearing impairment OMIM:610248
Deafness, Autosomal Recessive 86
Hearing impairment OMIM:614617
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
Tune Deafness
Hearing impairment OMIM:191200
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 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
Auditory Neuropathy, Autosomal Dominant 3
Hearing impairment, Abnormal speech discrimination OMIM:619832
Deafness, Autosomal Recessive 1B
Abnormal vestibular function, Hearing impairment OMIM:612645
Deafness, Autosomal Recessive 84A
Abnormal vestibular function, Hearing impairment OMIM:613391
Deafness, Autosomal Dominant 65
Abnormal vestibular function, Progressive hearing impairment OMIM:616044
Deafness, Autosomal Recessive 25
Hearing impairment, Progressive sensorineural hearing impairment OMIM:613285
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, Autosomal Recessive 109
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Usher Syndrome, Type Id
Abnormal vestibular function, Hearing impairment OMIM:601067
Deafness, X-Linked 4
Sensorineural hearing impairment, High-frequency hearing impairment OMIM:300066
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, Autosomal Recessive 74
Hearing impairment OMIM:613718
Facial Paresis, Hereditary Congenital, 2
Hearing impairment OMIM:604185
Keratoderma, Palmoplantar, With Deafness
Hearing impairment OMIM:148350
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment... OMIM:609129
Deafness, Autosomal Dominant 56
Sensorineural hearing impairment, Abnormal vestibular function OMIM:615629
Deafness, Autosomal Dominant 81
Sensorineural hearing impairment, Abnormal vestibular function OMIM:619500
Deafness, Autosomal Recessive 7
Sensorineural hearing impairment, Abnormal vestibular function OMIM:600974
Deafness, Autosomal Dominant 74
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618140
Deafness, Autosomal Recessive 110
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618094
Deafness, Autosomal Recessive 1A
Sensorineural hearing impairment, Abnormal vestibular function OMIM:220290
Deafness, Autosomal Dominant 71
Sensorineural hearing impairment, Abnormal vestibular function OMIM:617605
Deafness, Autosomal Recessive 84B
Vestibular hypofunction, Sensorineural hearing impairment OMIM:614944
Deafness, Autosomal Recessive 94
Abnormal vestibular function, Bilateral sensorineural hearing impairment OMIM:618434
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... OMIM:600791
Fibromatosis, Gingival, 1
Hearing impairment OMIM:135300
Deafness, Autosomal Recessive 2
Vertigo, Sensorineural hearing impairment, Abnormal vestibular function OMIM:600060
Deafness, Autosomal Dominant 11
Vertigo, Abnormal vestibular function, Bilateral sensorineural hearing impairment OMIM:601317
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 Dominant 66
Sensorineural hearing impairment OMIM:616969
Deafness, Autosomal Dominant 70
Progressive sensorineural hearing impairment OMIM:616968
Deafness, Autosomal Dominant 22
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:221745
Deafness, Autosomal Recessive 28
Severe sensorineural hearing impairment OMIM:609823
Deafness, Autosomal Recessive 112
Sensorineural hearing impairment OMIM:618257
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
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 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 116
Sensorineural hearing impairment OMIM:619093
Deafness, Autosomal Dominant 6
Low-frequency sensorineural hearing impairment, Progressive 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 73
Sensorineural hearing impairment OMIM:617663
Deafness, Autosomal Recessive 17
Sensorineural hearing impairment OMIM:603010
Deafness, Autosomal Dominant 48
Sensorineural hearing impairment OMIM:607841
Deafness, Autosomal Dominant 40
Sensorineural hearing impairment OMIM:616357
Deafness, Autosomal Dominant 37
Sensorineural hearing impairment OMIM:618533
Deafness, Autosomal 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 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 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 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, Neural, Congenital Moderate
Sensorineural hearing impairment OMIM:221500
Deafness, Autosomal Dominant 83
Bilateral sensorineural hearing impairment OMIM:619808
Deafness, Autosomal Dominant 84
Sensorineural hearing impairment OMIM:619810
Deafness, X-Linked 1
Sensorineural hearing impairment OMIM:304500
Deafness, Autosomal Dominant 69
Sensorineural hearing impairment OMIM:616697
Deafness, Autosomal Recessive 113
Sensorineural hearing impairment OMIM:618410
Neuropathy, Hereditary Motor And Sensory, With Deafness, Mental Retardation, And Absent Sensory Large Myelinated Fibers
Sensorineural hearing impairment OMIM:214370
Deafness, Autosomal Recessive 100
Sensorineural hearing impairment OMIM:618422
Deafness, Autosomal Recessive 114
Sensorineural hearing impairment OMIM:618456
Deafness, Autosomal Recessive 115
Sensorineural hearing impairment OMIM:618457
Deafness, Autosomal Recessive 99
Sensorineural hearing impairment OMIM:618481
Deafness, Y-Linked 2
Sensorineural hearing impairment OMIM:400047
Deafness, Autosomal Dominant 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 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 Recessive 51
Sensorineural hearing impairment OMIM:609941
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment OMIM:605583
Deafness, Autosomal Recessive 70, With Or Without Adult-Onset Neurodegeneration
Abnormal vestibular function, Hearing impairment OMIM:614934
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Autism, Susceptibility To, X-Linked 4
Impulsivity, Motor tics, Attention deficit hyperactivity disorder OMIM:300830
Deafness-Oligodontia Syndrome
Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo ORPHA:3230
Posterior Column Ataxia
Impaired proprioception, Ataxia, Impaired vibratory sensation OMIM:176250
Deafness, Autosomal Dominant 77
Morphological abnormality of the inner ear, Sensorineural hearing impairment, Tinnitus OMIM:618915
Deafness, Autosomal Dominant 80
Morphological abnormality of the semicircular canal, Dilated vestibule of the inner ear, Cochlear... OMIM:619274
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... OMIM:616515
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Limb dystonia, Upper motor neuron dysfunction, Violent behavior, Frequent falls, D... ORPHA:216873
Cochleosaccular Degeneration With Progressive Cataracts
Hearing impairment OMIM:120040
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements OMIM:616939
Benign Paroxysmal Torticollis Of Infancy
Ataxia, Abnormal head movements ORPHA:71518
Schizophrenia 15
Hyperactivity OMIM:613950
Primary Dystonia, Dyt13 Type
Postural tremor, Limb dystonia, Torticollis, Abnormal repetitive mannerisms, Focal dystonia, Tors... ORPHA:98807
Opticocochleodentate Degeneration
Cochlear degeneration, Hearing impairment, Optic atrophy OMIM:258700
Huntington Disease
Poor fine motor coordination, Inability to walk, Suicidal ideation, Choking episodes, Irritabilit... ORPHA:399
Episodic Ataxia Type 4
Ataxia, Abnormal head movements ORPHA:79136
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Meniere Disease
Hearing impairment, Tinnitus, Vertigo OMIM:156000
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Deafness, Autosomal Dominant 41
Hearing impairment, Progressive sensorineural hearing impairment, Tinnitus OMIM:608224
Huntington Disease-Like 1
Chorea, Global brain atrophy, Basal ganglia gliosis, Aggressive behavior, Rigidity, Incoordinatio... OMIM:603218
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Vertigo, Tinnitus, Cochlear degeneration, Abnormali... OMIM:601369
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, Hyperactivity, EEG abnormality ORPHA:436151
Basal Ganglia Calcification, Idiopathic, 5
Chorea, Parkinsonism, Apathy, Vertigo, Depression, Anxiety, Motor tics, Athetosis OMIM:615483
Gilles De La Tourette Syndrome
Phonic tics, Motor tics, Attention deficit hyperactivity disorder OMIM:137580
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism OMIM:615493
Deafness, Autosomal Dominant 2A
Hearing impairment, Tinnitus OMIM:600101
Deafness, Autosomal Dominant 58
Hearing impairment, Tinnitus OMIM:615654
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism ORPHA:356996
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Spinocerebellar Ataxia 17
Neuronal loss in central nervous system, Dysphagia, Bradykinesia, Gait ataxia, Aggressive behavio... OMIM:607136
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Deafness, Autosomal Dominant 50
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... OMIM:613074
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Retinitis Pigmentosa 36
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:610599
Frontotemporal Dementia With Motor Neuron Disease
Global brain atrophy, Fasciculations, Parkinsonism, Apraxia, Abnormality of extrapyramidal motor ... ORPHA:275872
Deafness, X-Linked 2
Stapes ankylosis, Conductive hearing impairment, Dilatated internal auditory canal, Progressive s... OMIM:304400
Dystonia 31
Abnormal posturing, Writer's cramp, Leg dystonia, Craniofacial dystonia, Arm dystonia, Generalize... OMIM:619565
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Spinocerebellar Ataxia 48
Gait ataxia, Chorea, Anxiety, Parkinsonism, Cachexia, Ataxia, Babinski sign, Dysmetria, Tremor, D... OMIM:618093
Leber Congenital Amaurosis 13
Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret... OMIM:612712
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Athetosis, Abnormal head movements ORPHA:382
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Pandas
Chorea, Abnormal fear/anxiety-related behavior, Separation insecurity, Tics, Clumsiness, Emotiona... ORPHA:66624
Juvenile Huntington Disease
Gait ataxia, Chorea, Hyperactivity, Cerebellar vermis atrophy, Weight loss, Rigidity, Myoclonus, ... ORPHA:248111
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior, Short stature, Clumsiness, Recurrent hand flapping, Agitation... ORPHA:100973
Mohr-Tranebjaerg Syndrome
Global brain atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hear... ORPHA:52368
Spinocerebellar Ataxia, Autosomal Recessive 27
Gait ataxia, Spasticity, Cerebral cortical atrophy, Spastic ataxia, Gait imbalance, Aggressive be... OMIM:618369
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Spastic gait, Limb ataxia, Difficulty walking, Jerky head movements ORPHA:251282
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Inappropriate behavior, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction... ORPHA:401901
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy OMIM:136600
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Chorea, Aggressive behavior, Falls, Poor coordination, Ataxia, Paroxysmal dyskinesia, Inappropria... OMIM:619150
Huntington Disease-Like 1
Poor fine motor coordination, Gait ataxia, Chorea, Cerebral cortical atrophy, Weight loss, Abnorm... ORPHA:157941
Liberfarb Syndrome
Sensorineural hearing impairment, Retinal degeneration, Retinal pigment epithelial mottling, Bone... OMIM:618889
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Somatic sensory dysfunction, Spasticity, Global brain atrophy, Shuffling gait, Parkinsonism, Rigi... OMIM:221820
Chromosome Xq21 Deletion Syndrome
Incomplete partition of the cochlea, Conductive hearing impairment, Choroideremia, Progressive se... OMIM:303110
Deafness-Infertility Syndrome
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Abnormal vestib... OMIM:611102
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Truncal ataxia, Progressive gait ataxia, Limb ataxia, Progressive cerebe... ORPHA:247815
Pick Disease Of Brain
Diminished motivation, Emotional blunting, Apathy, Neuronal loss in central nervous system, Inapp... OMIM:172700
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Sensorineural hearing impairment, Immotile sperm OMIM:608653
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Recurrent hand flapping, Agitation, Impulsivity, Stereotypical body rocking OMIM:309548
Spinocerebellar Ataxia 7
Chorea, Spasticity, Optic atrophy, Abnormality of extrapyramidal motor function, Babinski sign, D... OMIM:164500
Huntington Disease-Like 2
Chorea, Cerebral cortical atrophy, Inertia, Weight loss, Rigidity, Apathy, Action tremor, Depress... OMIM:606438
Striatonigral Degeneration, Infantile, Mitochondrial
Chorea, Lingual dystonia, Myoclonus, Poor motor coordination, Incoordination, Babinski sign, Freq... OMIM:500003
Inherited Creutzfeldt-Jakob Disease
Global brain atrophy, Abnormal autonomic nervous system physiology, Babinski sign, Neuronal loss ... ORPHA:282166
Neurodegeneration With Brain Iron Accumulation
Chorea, Spasticity, Optic atrophy, Rigidity, Abnormality of extrapyramidal motor function, Cerebe... ORPHA:385
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Non-Syndromic Genetic Deafness
Postlingual sensorineural hearing impairment, Conductive hearing impairment, Prelingual sensorine... ORPHA:87884
Spinocerebellar Ataxia 50
Chorea, Froment sign, Cerebellar vermis atrophy, Postural tremor, Apraxia, Myoclonus, Ataxia, Hea... OMIM:620158
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Ataxia, Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Paroxysmal Exertion-Induced Dyskinesia
Chorea, Aggressive behavior, Paresthesia, Choreoathetosis, Ataxia, Torsion dystonia, Paroxysmal d... ORPHA:98811
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Chorea, Spasticity, Self-injurious behavior, Inability to walk, Stereotypical hand wringing, Myoc... OMIM:614254
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Macrotia, Short stature, Anxiety, Upper limb spasticity, Gait disturbance, Abnormal repetitive ma... ORPHA:457240
Behavioral Variant Of Frontotemporal Dementia
Inappropriate behavior, Aggressive behavior, Emotional blunting, Frontotemporal cerebral atrophy,... ORPHA:275864
Huntington Disease-Like 2
Chorea, Cerebral cortical atrophy, Weight loss, Parkinsonism, Gait disturbance, Caudate atrophy, ... ORPHA:98934
Spermatogenic Failure 35
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... OMIM:618341
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Optic atrophy, EEG abnormality, Ataxia, Pigmentary retinopathy OMIM:610951
Spermatogenic Failure 72
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... OMIM:619867
Spermatogenic Failure 34
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:618153
Spinocerebellar Ataxia Type 1
Chorea, Abnormal nerve conduction velocity, Gait imbalance, Abnormality of somatosensory evoked p... ORPHA:98755
Choroideremia
Choroideremia, Granular macular appearance, Retinal pigment epithelial mottling, Bone spicule pig... OMIM:303100
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Chorea, Self-injurious behavior, Inability to walk, Stereotypical hand wringing, Dystonia OMIM:618760
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Spasticity, Hyperactivity, Ankle clonus, Spastic tetraplegia, Inability to walk, Babinski sign, C... OMIM:616657
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Gait disturbance, Pigmentary retinopathy, Ataxia ORPHA:1178
Spinocerebellar Ataxia, Autosomal Recessive 29
Inability to walk, Optic disc pallor, Retinal pigment epithelial mottling, Ataxia, Generalized dy... OMIM:619389
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Chorea, Spasticity, Abnormal pyramidal sign, Decreased body weight, Cerebral cortical atrophy, In... OMIM:617672
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... OMIM:613830
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Sydenham Chorea
Chorea, Inappropriate behavior, Hemiballismus, Emotional lability, Compulsive behaviors, Unsteady... ORPHA:306731
Spermatogenic Failure 46
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:619095
Spermatogenic Failure 33
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618152
Spermatogenic Failure 37
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618429
Spermatogenic Failure 18
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:617576
Spermatogenic Failure 27
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:617965
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Chorea, Gait disturbance, Emotional lability, Dysphagia OMIM:607674
Frontotemporal Dementia
Diminished motivation, Parkinsonism, Apathy, Neuronal loss in central nervous system, Inappropria... OMIM:600274
Spermatogenic Failure 65
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... OMIM:619712
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Gait ataxia, Chorea, Spasticity, Hyperactivity, Abnormal pyramidal sign, Aggressive behavior, Lim... ORPHA:500180
Clcn4-Related X-Linked Intellectual Disability Syndrome
Chorea, Hyperactivity, Cerebral cortical atrophy, Aggressive behavior, Self-injurious behavior, A... ORPHA:485350
Parkinsonism-Dystonia 3, Childhood-Onset
Chorea, Global brain atrophy, Aggressive behavior, Anxiety, Hyperkinetic movements, Parkinsonism,... OMIM:619738
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Huntington Disease
Gait ataxia, Chorea, Rigidity, Neuronal loss in central nervous system, Gliosis, Depression, Cere... OMIM:143100
Infantile Neuronal Ceroid Lipofuscinosis
Poor fine motor coordination, Chorea, Spasticity, Cerebral cortical atrophy, Brain atrophy, Myocl... ORPHA:79263
Spermatogenic Failure 56
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:619515
Deafness-Infertility Syndrome
Sensorineural hearing impairment, Male infertility, Azoospermia ORPHA:94064
Huntington Disease-Like 3
Progressive gait ataxia, Broad-based gait, Abnormal head movements ORPHA:157946
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Hemiballismus, Brain atrophy, Tremor, Frequent falls, Unsteady gait ORPHA:494526
Deafness, Autosomal Dominant 36
Sensorineural hearing impairment, Tinnitus OMIM:606705
Deafness, Autosomal Dominant 43
Sensorineural hearing impairment, Tinnitus OMIM:608394
Deafness, Autosomal Dominant 33
Sensorineural hearing impairment, Tinnitus OMIM:614211
Deafness, Autosomal Dominant 64
Sensorineural hearing impairment, Tinnitus OMIM:614152
Deafness, Autosomal Dominant 67
Sensorineural hearing impairment, Tinnitus OMIM:616340
Deafness, Autosomal Dominant 72
Sensorineural hearing impairment, Tinnitus OMIM:617606
Deafness, Autosomal Dominant 82
Sensorineural hearing impairment, Tinnitus OMIM:619804
Deafness, Y-Linked 1
Sensorineural hearing impairment, Tinnitus OMIM:400043
Intellectual Developmental Disorder, X-Linked 12
Spasticity, Increased body mass index, Sensorineural hearing impairment, Short stature, Anxiety, ... OMIM:300957
Intellectual Developmental Disorder, X-Linked 104
Spasticity, Hyperactivity, Cerebral cortical atrophy, Aggressive behavior, Optic atrophy, Ataxia,... OMIM:300983
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 19
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Chorea, Abnormal pyramidal sign, Brain atrophy, Parkinsonism, Hypoesthesia, Ataxia, Dysmetria, Sl... OMIM:618317
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Hyporeflective spaces on macular OCT,... ORPHA:59181
Pendred Syndrome
Sensorineural hearing impairment, Hypoplasia of the cochlea, Enlarged vestibular aqueduct, Abnorm... ORPHA:705
Paroxysmal Non-Kinesigenic Dyskinesia
Chorea, Rigidity, Torticollis, Choreoathetosis, Paroxysmal dyskinesia, Involuntary movements, Hyp... ORPHA:98810
Usher Syndrome Type 1
Cerebral cortical atrophy, Sensorineural hearing impairment, Subcortical cerebral atrophy, Vestib... ORPHA:231169
Usher Syndrome, Type I
Rod-cone dystrophy, Sensorineural hearing impairment, Absent vestibular function OMIM:276900
Spinocerebellar Ataxia, Autosomal Recessive 2
Gait ataxia, Spasticity, Cerebellar vermis atrophy, Short stature, Limb ataxia, Incoordination, A... OMIM:213200
Deafness, Autosomal Dominant 16
Adult onset sensorineural hearing impairment, Tinnitus OMIM:603964
Ravine Syndrome
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem ORPHA:99852
3-Methylglutaconic Aciduria, Type Iii
Chorea, Spasticity, Optic atrophy, Abnormality of extrapyramidal motor function, Ataxia, Babinski... OMIM:258501
Folinic Acid-Responsive Seizures
Chorea, Sensorineural hearing impairment, Frontotemporal cerebral atrophy, Optic atrophy, Ataxia,... ORPHA:79097
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:301059
Friedreich Ataxia
Poor fine motor coordination, Gait ataxia, Spasticity, Chorea, Gait imbalance, Falls, Impaired vi... ORPHA:95
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Inappropriate behavior, Spasticity, Aggressive behavior, Apraxia, Myoclonus, Gait disturbance, Ba... OMIM:221770
Neurodevelopmental Disorder With Involuntary Movements
Chorea, Spasticity, Self-injurious behavior, Involuntary movements, Dystonia, Cerebellar atrophy,... OMIM:617493
Striatonigral Degeneration, Infantile
Spasticity, Optic atrophy, Choreoathetosis, Failure to thrive, Dysphagia, Dystonia OMIM:271930
Spermatogenic Failure 17
Male infertility OMIM:617214
Proximal Myopathy With Extrapyramidal Signs
Chorea, Resting tremor, Optic atrophy, Ataxia, Progressive extrapyramidal movement disorder, Diff... ORPHA:401768
Mepan Syndrome
Chorea, Spasticity, Optic atrophy, Limb dystonia, Myoclonus, Hemidystonia, Gait disturbance, Atax... ORPHA:508093
Retinitis Pigmentosa 30
Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina... OMIM:607921
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia, Hypervalinemia, Hyperisoleucinemia OMIM:620085
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Ataxia, Abnormality of retinal pigmentation ORPHA:2579
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Chorea, Resting tremor, Parkinsonism, Myoclonus, Ataxia, Attention deficit hyperactivity disorder... OMIM:619725
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Paralysis, Amyotrophic lateral sclerosis, Gliosis, Dysphagia, Athetosis, Dystonia OMIM:300857
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Delayed speech and language development, Recurrent hand flapping, Delayed social development, Low... OMIM:618147
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Chorea, Falls, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Choreoathetosis... ORPHA:13
Pyruvate Carboxylase Deficiency
Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Recurrent hand flapping, Atax... ORPHA:3008
Retinitis Pigmentosa 57
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:613582
Central Areolar Choroidal Dystrophy
Choriocapillaris atrophy, Hyperautofluorescent macular lesion, Retinal pigment epithelial mottlin... ORPHA:75377
Neurodegeneration With Brain Iron Accumulation 3
Chorea, Spasticity, Blepharospasm, Parkinsonism, Rigidity, Writer's cramp, Choreoathetosis, Ataxi... OMIM:606159
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements, Unsteady gait OMIM:616921
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Chorea, Spasticity, Blepharospasm, Optic atrophy, Involuntary movements, Rigidity, Clumsiness, My... OMIM:617282
Autosomal Recessive Spastic Paraplegia Type 44
Somatic sensory dysfunction, Sensorineural hearing impairment, Abnormality of somatosensory evoke... ORPHA:320401
Familial Drusen
Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... ORPHA:75376
Hsd10 Disease
Frontotemporal cerebral atrophy, Optic atrophy, Rigidity, Myoclonus, Choreoathetosis, Gait distur... ORPHA:391417
Spermatogenic Failure 58
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... OMIM:619585
Spermatogenic Failure 54
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... OMIM:619379
Spermatogenic Failure 40
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... OMIM:618664
Spermatogenic Failure 76
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:620084
Familial Infantile Bilateral Striatal Necrosis
Optic atrophy, Choreoathetosis, Babinski sign, Frequent falls, Hypertonia, Dysphagia, Gait ataxia... ORPHA:225154
Myoclonus, Intractable, Neonatal
Chorea, Optic disc pallor, Myoclonus, Impaired oral bolus formation, Dysphagia, Athetosis OMIM:617235
Chorea, Benign Hereditary
Chorea, Gait disturbance, Frequent falls, Anxiety OMIM:118700
Leigh Syndrome
Spasticity, Sensorineural hearing impairment, Optic atrophy, Ataxia, Emotional lability, Failure ... OMIM:256000
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Gait ataxia, Cerebral cortical atrophy, Short stature, Recurrent hand flapping, Hand tremor, Dysp... OMIM:617862
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration, Retinal pigment epithelial mottling, Sensorineural hearing impairment, Peri... OMIM:617879
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:610359
Spermatogenic Failure 42
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... OMIM:618745
Retinitis Pigmentosa 32
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... OMIM:609913
Usher Syndrome Type 3
Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology ORPHA:231183
Dentatorubral-Pallidoluysian Atrophy
Chorea, Parkinsonism, Myoclonus, Choreoathetosis, Ataxia, Dystonia OMIM:125370
Pyruvate Dehydrogenase E2 Deficiency
Choreoathetosis, Jerky head movements, Ataxia OMIM:245348
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... OMIM:618643
Developmental And Epileptic Encephalopathy 37
Chorea, Spasticity, Rigidity, Myoclonus, Choreoathetosis, Gait disturbance, Cerebellar atrophy, C... OMIM:616981
Pontocerebellar Hypoplasia, Type 2D
Chorea, Cerebellar vermis atrophy, Spastic tetraplegia, Appendicular spasticity, Cerebral atrophy... OMIM:613811
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Abnormal pyramidal sign, Dysdiadochokinesis, Parkinsonism, Rigidity, Gait disturbance, Tr... OMIM:213600
Salt And Pepper Developmental Regression Syndrome
Global brain atrophy, Optic atrophy, Myoclonus, Choreoathetosis, Failure to thrive, Irritability,... OMIM:609056
Pendred Syndrome
Cochlear malformation, Abnormal vestibular function, Congenital sensorineural hearing impairment OMIM:274600
Leukoencephalopathy With Vanishing White Matter 1
Spasticity, Optic atrophy, Secondary amenorrhea, Premature ovarian insufficiency, Gait disturbanc... OMIM:603896
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Orthostatic hypotension due to autonomic dysfunction, Spasticity, Impotence, Pseudobulbar paralys... OMIM:169500
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity, Macrotia, Aggressive behavior, Small for gestational age, Failure to ... OMIM:609425
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Torticollis, Ataxia, Tremor, Hyperkinetic movements, Dystonia OMIM:618425
L-2-Hydroxyglutaric Aciduria
Global brain atrophy, Abnormal pyramidal sign, Optic atrophy, Abnormality of extrapyramidal motor... OMIM:236792
Spermatogenic Failure 47
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:619102
Branchiootic Syndrome 1
Sensorineural hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, M... OMIM:602588
Gordon Holmes Syndrome
Chorea, Primary amenorrhea, Secondary amenorrhea, Ataxia, Cerebellar atrophy, Cerebral atrophy, O... OMIM:212840
Machado-Joseph Disease
Spasticity, Parkinsonism, Truncal ataxia, Rigidity, Abnormality of extrapyramidal motor function,... OMIM:109150
Intellectual Developmental Disorder, Autosomal Recessive 73
Gait ataxia, Poor coordination, Recurrent hand flapping, Impulsivity, Low-set ears, Irritability,... OMIM:619717
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Bilateral sensorineural hearing impairment, Choreoathetosis, Ataxia, Tremor, Growt... OMIM:619422
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the retina, Attenua... OMIM:180210
Autosomal Dominant Cerebellar Ataxia
Somatic sensory dysfunction, Akinesia, Pseudobulbar paralysis, Choreoathetosis, Upper motor neuro... ORPHA:99
Otosclerosis 7
Conductive hearing impairment, Otosclerosis, Progressive hearing impairment, Abnormality of the a... OMIM:611572
Christianson Syndrome
Gait ataxia, Macrotia, Cerebral cortical atrophy, Truncal ataxia, Cachexia, Abnormal repetitive m... ORPHA:85278
Deafness, X-Linked 5, With Peripheral Neuropathy
Abnormal middle ear reflexes, Abnormal speech discrimination, Vertigo, Cochlear nerve hypoplasia,... OMIM:300614
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Head tremor, Spinocerebellar atrophy, Cochlear degeneration, Hearing impairment ORPHA:95433
Episodic Kinesigenic Dyskinesia 2
Chorea, Paroxysmal dyskinesia, Dystonia, Involuntary movements OMIM:611031
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Conductive hearing impairment, Abnormality of the middle ear ossicles, Enlarged... ORPHA:90646
Hereditary Late-Onset Parkinson Disease
Orthostatic hypotension due to autonomic dysfunction, Cerebral cortical atrophy, Shuffling gait, ... ORPHA:411602
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... OMIM:314250
Pelizaeus-Merzbacher Disease
Global brain atrophy, Cerebellar vermis atrophy, Optic atrophy, Inability to walk, Choreoathetosi... OMIM:312080
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Impaired social interactions, Macrotia, Absent speech, Stereotypical hand wringing ORPHA:397933
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Spasticity, Sensorineural hearing impairment, Short stature, Spastic tetraplegia, Small for gesta... OMIM:619847
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Paroxysmal bursts of laughter, Spasticity, Hyperactivity, Brain atrophy, Inability to walk, Self-... OMIM:618718
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Extrapyramidal dyskinesia, Parkinsonism, Apraxia, Paraparesis, Apathy, Neuronal loss in central n... OMIM:105550
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Chorea, Hostility, Macrotia, Decreased body weight, Inability to walk, Progressive spasticity, Ri... OMIM:300260
Spinocerebellar Ataxia, Autosomal Recessive 23
Ataxia, Hyponatremia OMIM:616949
6Q16 Microdeletion Syndrome
Microtia, Poor coordination, Abnormal ear morphology, Polyphagia, Low-set ears, Obesity, Broad-ba... ORPHA:171829
Classic Glucose Transporter Type 1 Deficiency Syndrome
Chorea, Spasticity, Extrapyramidal dyskinesia, Hemiparesis, Apraxia, Myoclonus, Choreoathetosis, ... ORPHA:71277
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Spermatogenic Failure 7
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm OMIM:612997
Childhood-Onset Benign Chorea With Striatal Involvement
Chorea, Parkinsonism with favorable response to dopaminergic medication, Anxiety ORPHA:494541
Male Infertility Due To Acephalic Spermatozoa
Abnormal sperm mid-piece morphology, Reduced sperm motility, Oligospermia, Male infertility, Acep... ORPHA:529970
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:614822
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:615081
Juvenile Amyotrophic Lateral Sclerosis
Inability to walk, Cachexia, Axial dystonia, Difficulty walking, Hypertonia, Dysphagia, Arm dysto... ORPHA:300605
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Granular macular appearance, Perifoveal ring of hyperautofluo... OMIM:608051
Retinitis Pigmentosa 62
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:614181
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:618670
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... ORPHA:97341
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy, Hearing impairment, Waddling gait OMIM:619090
Spinocerebellar Ataxia Type 2
Gait ataxia, Chorea, Cerebral cortical atrophy, Postural tremor, Parkinsonism, Cerebellar Purkinj... ORPHA:98756
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Gait ataxia, Chorea, Spasticity, Self-injurious behavior, Inability to walk, Stereotypical hand w... OMIM:618917
Neurodegeneration With Brain Iron Accumulation 2B
Gait ataxia, Chorea, Hyperactivity, Spasticity, Dysdiadochokinesis, Optic atrophy, Emotional labi... OMIM:610217
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Acute Zonal Occult Outer Retinopathy
Retinal pigment epithelial atrophy, Macular drusen, Rod-cone dystrophy, Abnormal choroid morpholo... ORPHA:284454
Fragile X Syndrome
Recurrent hand flapping, Abnormal head movements OMIM:300624
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619937
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619878
Pontocerebellar Hypoplasia, Type 2A
Chorea, Extrapyramidal dyskinesia, Cerebral cortical atrophy, Optic atrophy, Dystonia, Gliosis, D... OMIM:277470
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Gait ataxia, Chorea, Abnormal pyramidal sign, Inability to walk, Rigidity, Paraparesis, Irritabil... OMIM:607483
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperalaninemia, Hypoornithinemia, Hyperammonemia, Hyperprolinemia, Hypernatremia, Hyperglutamine... OMIM:615751
Retinitis Pigmentosa 81
Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A... OMIM:617871
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Pontocerebellar Hypoplasia, Type 4
Spasticity, Myoclonus, Gliosis, Hypertonia, Dysphagia OMIM:225753
Neuroleptic Malignant Syndrome
Chorea, Hyperphosphatemia, Hyperuricemia, Oculogyric crisis, Hyperkalemia, Elevated circulating c... ORPHA:94093
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy, Ataxia OMIM:551500
Tay-Sachs Disease
Poor fine motor coordination, Global brain atrophy, Optic atrophy, Inability to walk, Frequent fa... ORPHA:845
Intellectual Developmental Disorder, Autosomal Recessive 58
Pica, Aggressive behavior, Self-injurious behavior, Spastic diplegia, Short stature, Choreoathetosis OMIM:617270
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Retinitis Pigmentosa 11
Rod-cone dystrophy, Macular edema, Macular degeneration, Macular atrophy, Bone spicule pigmentati... OMIM:600138
Neurodevelopmental Disorder With Dystonia And Seizures
Chorea, Cerebral cortical atrophy, Self-injurious behavior, Spastic tetraplegia, Anxiety, Cerebel... OMIM:619922
Usher Syndrome, Type Iv
Sensorineural hearing impairment, Hyperautofluorescent macular lesion, Retinal atrophy, Retinal d... OMIM:618144
Leber Congenital Amaurosis 2
Attenuation of retinal blood vessels, Eye poking, Fundus atrophy, Optic disc pallor, Pigmentary r... OMIM:204100
Neurodegeneration With Brain Iron Accumulation 2A
Abnormal pyramidal sign, Optic atrophy, Spastic tetraplegia, Ataxia, Neuronal loss in central ner... OMIM:256600
Early-Onset Schizophrenia
Diminished motivation, Abnormal emotion/affect behavior, Suicidal ideation, Decreased female libi... ORPHA:96369
Spermatogenic Failure 25
Early spermatogenesis maturation arrest, Cryptozoospermia, Male infertility, Non-obstructive azoo... OMIM:617960
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Bradykinesia, Macrotia, Shuffling gait, Spastic tetraplegia, Spastic gait, Resting tremor, Parkin... OMIM:300055
Spinocerebellar Ataxia 1
Optic atrophy, Truncal ataxia, Babinski sign, Dysphagia, Spinocerebellar atrophy, Spasticity, Dec... OMIM:164400
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia OMIM:619108
Bardet-Biedl Syndrome 13
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:615990
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Happy demeanor, Ataxia, Inappropriate laughter, Polyphagia, Obesity, Broad-based gait ORPHA:411515
Retinitis Pigmentosa 39
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:613809
2Q23.1 Microdeletion Syndrome
Paroxysmal bursts of laughter, Hyperactivity, Self-injurious behavior, Short stature, Abnormal re... ORPHA:228402
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Macrotia, Cerebral cortical atrophy, Short stature, Birth length less than 3rd per... OMIM:614104
Bothnia Retinal Dystrophy
Retinal pigment epithelial atrophy, Increased OCT-measured foveal thickness, Rod-cone dystrophy, ... ORPHA:85128
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Bilateral sensorineural hearing impairment, Tinnitus, High-frequency hearing impairment OMIM:605594
Intellectual Developmental Disorder, Autosomal Dominant 45
Chorea, Hyperactivity, Cerebral palsy, Recurrent hand flapping, Myoclonus, Attention deficit hype... OMIM:617600
Sporadic Creutzfeldt-Jakob Disease
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Myoclonus, Upp... ORPHA:204
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Cerebral cortical atrophy, Parkinsonism, Apraxia, Hypersexuality, Repetitive compulsive behavior,... OMIM:607485
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, EEG abnormality, Absent brainstem auditory responses, Choreoath... OMIM:617519
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Limb myoclonus, Abnormal pyramidal sign, Involuntary movements, Rigi... ORPHA:240103
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Optic atrophy, Spastic tetraparesis, Tremor, Broad-based gait OMIM:619470
Fragile X Tremor/Ataxia Syndrome
Poor fine motor coordination, Impotence, Action tremor, Hearing impairment, Obsessive-compulsive ... OMIM:300623
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia, Optic atrophy OMIM:300928
Vestibulocochlear Dysfunction, Progressive
Progressive hearing impairment, Tinnitus, Vestibular areflexia OMIM:193005
Retinitis Pigmentosa 95
Perifoveal ring of hyperautofluorescence, Optic disc pallor, Bone spicule pigmentation of the ret... OMIM:620102
Progressive Supranuclear Palsy
Blepharospasm, Cerebral cortical atrophy, Falls, Rigidity, Neuronal loss in central nervous syste... ORPHA:683
Foxg1 Syndrome
Paroxysmal bursts of laughter, Spasticity, Decreased body weight, Short stature, Stereotypical ha... ORPHA:561854
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... OMIM:614500
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Conductive hearing impairment, Inability to walk, Stereotypical hand wringing, Myoclonus, Choreoa... OMIM:618497
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Chorea, Spasticity, Exaggerated startle response, Macrotia, Cerebral cortical atrophy, Spastic te... OMIM:617864
Retinitis Pigmentosa 76
Peripapillary atrophy, Retinal thinning, Hyperautofluorescent macular lesion, Bone spicule pigmen... OMIM:617123
Gm2 Gangliosidosis, Ab Variant
Chorea, Inappropriate behavior, Exaggerated startle response, Abnormal pyramidal sign, Abnormal f... ORPHA:309246
Leber Congenital Amaurosis 9
Optic atrophy, Retinal dots, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule p... OMIM:608553
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Axonal degeneration, Degeneration of anterior horn cells, Hand tremor, Gait disturbance, Gliosis,... OMIM:604484
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619528
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Abnormal pyramidal sign, Cerebral cortical atrophy, Brain atrophy, Optic atrophy, ... ORPHA:369939
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment OMIM:601455
Jeavons Syndrome
EEG with hyperventilation-induced epileptiform discharges, Abnormal head movements, EEG with foca... ORPHA:139431
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Gait disturbance, Progressive sensorineural h... OMIM:125250
Kearns-Sayre Syndrome
Hearing impairment, Ataxia, Abnormality of retinal pigmentation ORPHA:480
Developmental And Epileptic Encephalopathy 14
Spasticity, Cerebral cortical atrophy, Neuronal loss in central nervous system, Gliosis, Tetraple... OMIM:614959
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Dystonia With Ringbinden
Chorea, Dystonia, Gait disturbance OMIM:224550
Ataxia-Telangiectasia-Like Disorder
Gait ataxia, Chorea, Short stature, Dysdiadochokinesis, Oculomotor apraxia, Myoclonus, Ataxia, Dy... ORPHA:251347
Spermatogenic Failure 70
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility OMIM:619828
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 36