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Gene: Ercc6 MGI:1100494

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
excision repair cross-complementing rodent repair deficiency, complementation group 6
Synonyms:
CSB,  CS group B correcting gene,  C130058G22Rik

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IMPC Data Collections

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

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.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Ercc6 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 Ercc6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment... OMIM:609129
Deafness, Autosomal Dominant 65
Abnormal vestibular function, Progressive hearing impairment OMIM:616044
Deafness, Aminoglycoside-Induced
Aminoglycoside-induced hearing loss OMIM:580000
Deafness, Autosomal Dominant 17
High-frequency hearing impairment OMIM:603622
Deafness, Autosomal Dominant 7
High-frequency hearing impairment OMIM:601412
Deafness, Autosomal Dominant 2B
High-frequency hearing impairment OMIM:612644
Deafness, Autosomal Recessive 102
Profound hearing impairment OMIM:615974
Deafness, Autosomal Recessive 91
Progressive hearing impairment OMIM:613453
Deafness, Autosomal Dominant 18
Progressive hearing impairment OMIM:606012
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Dominant 15
Hearing impairment OMIM:602459
Deafness, Autosomal Recessive 89
Hearing impairment OMIM:613916
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 Dominant 51
Hearing impairment OMIM:613558
Deafness, Autosomal Recessive 33
Hearing impairment OMIM:607239
Deafness, Autosomal Recessive 96
Hearing impairment OMIM:614414
Deafness, Autosomal Recessive 93
Hearing impairment OMIM:614899
Deafness, Autosomal Dominant 54
Hearing impairment OMIM:615649
Deafness, Autosomal Dominant 52
Hearing impairment OMIM:607683
Deafness, Autosomal Recessive 55
Hearing impairment OMIM:609952
Deafness, Autosomal Recessive 47
Hearing impairment OMIM:609946
Deafness, Autosomal Recessive 106
Hearing impairment OMIM:617637
Deafness, Autosomal Recessive 107
Hearing impairment OMIM:617639
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Facial Paresis, Hereditary Congenital, 2
Hearing impairment, Facial palsy OMIM:604185
Deafness, Autosomal Recessive 25
Hearing impairment, Progressive sensorineural hearing impairment OMIM:613285
Usher Syndrome, Type Id
Abnormal vestibular function, Hearing impairment OMIM:601067
Deafness, Autosomal Recessive 30
Progressive sensorineural hearing impairment, Progressive hearing impairment OMIM:607101
Deafness, Autosomal Recessive 74
Hearing impairment OMIM:613718
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 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Sensorineural hearing impairment, Hearing impairment OMIM:603098
Keratoderma, Palmoplantar, With Deafness
Hearing impairment OMIM:148350
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... OMIM:616515
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, X-Linked 4
Sensorineural hearing impairment, High-frequency hearing impairment OMIM:300066
Fibromatosis, Gingival, 1
Hearing impairment OMIM:135300
Deafness, Autosomal Recessive 70, With Or Without Adult-Onset Neurodegeneration
Abnormal vestibular function, Hearing impairment OMIM:614934
Deafness, Autosomal Recessive 84B
Vestibular hypofunction, Sensorineural hearing impairment OMIM:614944
Deafness, Autosomal Dominant 81
Sensorineural hearing impairment, Abnormal vestibular function OMIM:619500
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 7
Sensorineural hearing impairment, Abnormal vestibular function OMIM:600974
Deafness, Autosomal Dominant 56
Sensorineural hearing impairment, Abnormal vestibular function OMIM:615629
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 Dominant 20
Progressive sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:604717
Deafness, Autosomal Dominant 6
Low-frequency sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:600965
Deafness, Autosomal Recessive 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment OMIM:601869
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 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Cochleosaccular Degeneration With Progressive Cataracts
Hearing impairment OMIM:120040
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Deafness, Autosomal Dominant 73
Sensorineural hearing impairment OMIM:617663
Deafness, Autosomal Dominant 69
Sensorineural hearing impairment OMIM:616697
Deafness, Autosomal Recessive 17
Sensorineural hearing impairment OMIM:603010
Deafness, Autosomal Recessive 8
Sensorineural hearing impairment OMIM:601072
Deafness, Autosomal Recessive 26
Sensorineural hearing impairment OMIM:605428
Deafness, Autosomal Dominant 48
Sensorineural hearing impairment OMIM:607841
Deafness, Autosomal Recessive 113
Sensorineural hearing impairment OMIM:618410
Deafness, Autosomal Dominant 40
Sensorineural hearing impairment OMIM:616357
Deafness, Autosomal Dominant 37
Sensorineural hearing impairment OMIM:618533
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment OMIM:618778
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 Dominant 76
Sensorineural hearing impairment OMIM:618787
Deafness, Autosomal Recessive 14
Sensorineural hearing impairment OMIM:603678
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, Autosomal Recessive 27
Sensorineural hearing impairment OMIM:605818
Deafness, Autosomal Recessive 112
Sensorineural hearing impairment OMIM:618257
Deafness, Autosomal Recessive 68
Sensorineural hearing impairment OMIM:610419
Deafness, Autosomal Recessive 21
Sensorineural hearing impairment OMIM:603629
Deafness, Y-Linked 2
Sensorineural hearing impairment OMIM:400047
Deafness, Autosomal Dominant 10
Sensorineural hearing impairment OMIM:601316
Deafness, Autosomal Dominant 3A
Sensorineural hearing impairment OMIM:601544
Deafness, Autosomal Recessive 16
Sensorineural hearing impairment OMIM:603720
Deafness, Autosomal Dominant 12
Sensorineural hearing impairment OMIM:601543
Deafness, Autosomal Recessive 31
Sensorineural hearing impairment OMIM:607084
Deafness, Autosomal Recessive 66
Sensorineural hearing impairment OMIM:610212
Deafness, Autosomal Recessive 5
Sensorineural hearing impairment OMIM:600792
Deafness, Autosomal Recessive 59
Sensorineural hearing impairment OMIM:610220
Deafness, Autosomal Dominant 59
Sensorineural hearing impairment OMIM:612642
Deafness, Autosomal Recessive 61
Sensorineural hearing impairment OMIM:613865
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Recessive 117
Sensorineural hearing impairment OMIM:619174
Deafness, Autosomal Recessive 22
Sensorineural hearing impairment OMIM:607039
Deafness, Autosomal Dominant 27
Sensorineural hearing impairment OMIM:612431
Deafness, Autosomal Recessive 98
Sensorineural hearing impairment OMIM:614861
Deafness, Autosomal Dominant 21
Sensorineural hearing impairment OMIM:607017
Deafness, Autosomal Recessive 116
Sensorineural hearing impairment OMIM:619093
Deafness, Autosomal Dominant 68
Sensorineural hearing impairment OMIM:616707
Deafness, Autosomal Recessive 97
Sensorineural hearing impairment OMIM:616705
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533
Deafness, Autosomal Recessive 42
Sensorineural hearing impairment OMIM:609646
Intellectual Developmental Disorder, X-Linked 46
Sensorineural hearing impairment OMIM:300436
Deafness, Autosomal Dominant 66
Sensorineural hearing impairment OMIM:616969
Deafness, Autosomal Dominant 44
Sensorineural hearing impairment OMIM:607453
Deafness, Autosomal Dominant 47
Sensorineural hearing impairment OMIM:608652
Deafness, Autosomal Dominant 28
Sensorineural hearing impairment OMIM:608641
Deafness, Neural, Congenital Moderate
Sensorineural hearing impairment OMIM:221500
Deafness, Autosomal Dominant 53
Sensorineural hearing impairment OMIM:609965
Deafness, Autosomal Dominant 30
Sensorineural hearing impairment OMIM:606451
Deafness, Autosomal Recessive 18A
Sensorineural hearing impairment OMIM:602092
Deafness, Autosomal Recessive 53
Sensorineural hearing impairment OMIM:609706
Deafness, Autosomal Dominant 84
Sensorineural hearing impairment OMIM:619810
Deafness, Autosomal Recessive 51
Sensorineural hearing impairment OMIM:609941
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment OMIM:605583
Deafness, X-Linked 1
Sensorineural hearing impairment OMIM:304500
Macular Degeneration, Age-Related, 13
Macular scar, Macular degeneration, Choroidal neovascularization, Drusen OMIM:615439
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Retinal dystrophy, Drusen OMIM:267800
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... OMIM:312700
Retinitis Pigmentosa 36
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:610599
Usher Syndrome, Type Iiib
Truncal ataxia, Photophobia, Ataxia, Visual impairment OMIM:614504
Macular Dystrophy, Patterned, 3
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy OMIM:617111
Macular Dystrophy, Retinal, 1, North Carolina Type
Peripheral retinal atrophy, Drusen, Macular dystrophy, Abnormality of macular pigmentation OMIM:136550
Cone-Rod Dystrophy 7
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:603649
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Hyporeflective spaces on macular OCT,... ORPHA:59181
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment OMIM:617572
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Reduced visual acuity, Central scotoma, Ataxia, Color vision defect, Blind-spot enlargment, Photo... OMIM:616732
Late-Onset Retinal Degeneration
Retinopathy, Sub-RPE deposits, Retinal degeneration, Choroidal neovascularization, Chorioretinal ... OMIM:605670
Liberfarb Syndrome
Short stature, Retinal degeneration, Retinal pigment epithelial mottling, Bone spicule pigmentati... OMIM:618889
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Granular macular appearance, Perifoveal ring of hyperautofluo... OMIM:608051
Stargardt Disease 3
Macular flecks, Macular atrophy, Macular dystrophy OMIM:600110
Meniere Disease
Hearing impairment, Tinnitus, Vertigo OMIM:156000
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Stargardt Disease 4
Retinal flecks, Macular degeneration OMIM:603786
Deafness, Autosomal Dominant 41
Hearing impairment, Progressive sensorineural hearing impairment, Tinnitus OMIM:608224
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid OMIM:153700
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... OMIM:613830
Leber Congenital Amaurosis 19
Retinal degeneration, Optic disc pallor, Attenuation of retinal blood vessels OMIM:618513
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the retina, Attenua... OMIM:180210
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Attenuation of retinal b... OMIM:619531
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Retinitis Pigmentosa 31
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:609923
Deafness, Autosomal Dominant 50
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... OMIM:613074
Deafness, Autosomal Dominant 2A
Hearing impairment, Tinnitus OMIM:600101
Deafness, Autosomal Dominant 58
Hearing impairment, Tinnitus OMIM:615654
Tritanopia
Tritanomaly, Photophobia, Color vision test abnormality, Reduced visual acuity ORPHA:88629
Achromatopsia 4
Photophobia, Visual impairment, Achromatopsia OMIM:613856
Bothnia Retinal Dystrophy
Retinal pigment epithelial atrophy, Increased OCT-measured foveal thickness, Rod-cone dystrophy, ... ORPHA:85128
Corneal Dystrophy, Gelatinous Drop-Like
Blurred vision, Photophobia, Visual impairment, Reduced visual acuity OMIM:204870
Blue Cone Monochromacy
Reduced visual acuity, Blue cone monochromacy, Visual impairment, Myopia, Photophobia OMIM:303700
Retinitis Pigmentosa 70
Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess... OMIM:615922
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Optic Atrophy 6
Photophobia, Red-green dyschromatopsia, Visual impairment OMIM:258500
Retinitis Pigmentosa 32
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... OMIM:609913
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Macular drusen OMIM:608850
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Photophobia, Ataxia, Reduced visual acuity OMIM:618970
Cone-Rod Dystrophy 11
Macular degeneration, Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:610381
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Migraine, Familial Hemiplegic, 3
Photophobia, Blindness, Phonophobia OMIM:609634
Episodic Ataxia Type 6
Diplopia, Reduced visual acuity, Phonophobia, Ataxia, Photophobia ORPHA:209967
Retinal Cone Dystrophy 1
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:180020
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Optic Atrophy 12
Abnormal Ishihara plate test, Photophobia, Dyschromatopsia, Reduced visual acuity OMIM:618977
Non-Syndromic Genetic Deafness
Postlingual sensorineural hearing impairment, Conductive hearing impairment, Prelingual sensorine... ORPHA:87884
Bradyopsia
Photophobia, Visual impairment ORPHA:75374
Cone Dystrophy 4
Visual impairment, Photophobia, Dyschromatopsia, Reduced visual acuity OMIM:613093
Cone-Rod Synaptic Disorder, Congenital Nonprogressive
Color vision defect, Photophobia, Congenital stationary night blindness, Visual impairment OMIM:610427
Macular Degeneration, Age-Related, 1
Macular drusen, Macular hemorrhage, Macular degeneration, Choroidal neovascularization, Foveal hy... OMIM:603075
Deafness, Autosomal Dominant 77
Morphological abnormality of the inner ear, Sensorineural hearing impairment, Tinnitus OMIM:618915
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Cone-Rod Dystrophy 13
Color vision defect, Photophobia, Visual impairment, Reduced visual acuity OMIM:608194
Central Areolar Choroidal Dystrophy
Choriocapillaris atrophy, Hyperautofluorescent macular lesion, Retinal pigment epithelial mottlin... ORPHA:75377
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:610359
Cone-Rod Dystrophy 17
Photophobia, Central scotoma, Visual impairment OMIM:615163
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Cone Dystrophy 3
Progressive visual loss, Photophobia, Reduced visual acuity OMIM:602093
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... OMIM:143200
Macular Dystrophy, Vitelliform, 3
Reduced visual acuity, Color vision defect, Metamorphopsia, Visual impairment, Photophobia OMIM:608161
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Choroidal Dystrophy, Central Areolar 2
Photophobia OMIM:613105
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic atrophy, Optic disc pallor OMIM:609021
Familial Drusen
Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... ORPHA:75376
Progressive Cone Dystrophy
Color vision defect, Photophobia, Visual impairment ORPHA:1871
Cone-Rod Dystrophy 5
Color vision defect, Photophobia, Central scotoma, Reduced visual acuity OMIM:600977
Achromatopsia 7
Achromatopsia, Photophobia, Central scotoma, Reduced visual acuity OMIM:616517
Spinocerebellar Ataxia, Autosomal Recessive 12
Retinal degeneration, Growth delay, Optic atrophy OMIM:614322
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Gait ataxia, Photophobia, Neoplasm ORPHA:438134
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Vertigo, Tinnitus, Cochlear degeneration, Abnormali... OMIM:601369
Cone-Rod Dystrophy And Hearing Loss 2
Photophobia, Reduced visual acuity OMIM:618358
Amaurosis Congenita, Cone-Rod Type, With Congenital Hypertrichosis
Photophobia, Visual impairment OMIM:204110
Cone Rod Dystrophy
Color vision defect, Photophobia, Nyctalopia, Visual impairment ORPHA:1872
Retinitis Pigmentosa 11
Rod-cone dystrophy, Macular edema, Macular degeneration, Macular atrophy, Bone spicule pigmentati... OMIM:600138
Blue Cone Monochromatism
Photophobia, Blue cone monochromacy, Visual impairment ORPHA:16
Opticocochleodentate Degeneration
Cochlear degeneration, Hearing impairment, Optic atrophy OMIM:258700
Ravine Syndrome
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Cone-Rod Dystrophy, X-Linked, 1
Reduced visual acuity, Color vision defect, Visual impairment, Myopia, Photophobia, Nyctalopia OMIM:304020
Retinitis Pigmentosa 13
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... OMIM:600059
Night Blindness, Congenital Stationary, Type 1H
Hypermetropia, Photophobia, Mild myopia, Nyctalopia OMIM:617024
Red Skin Pigment Anomaly Of New Guinea
Photophobia OMIM:266350
Leber Congenital Amaurosis 14
Congenital blindness, Falls, Reduced visual acuity, Photophobia, Nyctalopia OMIM:613341
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Photophobia, Nyctalopia, Central scotoma, Reduced visual acuity OMIM:616079
Spondylometaphyseal Dysplasia, Axial
Rod-cone dystrophy, Rhizomelia, Optic atrophy, Cone/cone-rod dystrophy, Short stature, Retinal de... OMIM:602271
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Corneal Dystrophy, Fleck
Photophobia OMIM:121850
Posterior Cortical Atrophy
Cerebral visual impairment, Ataxia, Color vision defect, Photophobia, Abnormality of vision ORPHA:54247
Retinitis Pigmentosa 17
Color vision defect, Photophobia, Nyctalopia OMIM:600852
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Albinism, Oculocutaneous, Type Vi
Photophobia, Visual impairment, Reduced visual acuity OMIM:113750
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Retinitis Pigmentosa 81
Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A... OMIM:617871
Usher Syndrome, Type Iv
Retinal atrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Hyperautofluoresc... OMIM:618144
Leber Congenital Amaurosis 16
Reduced visual acuity, Visual field defect, Visual impairment, Photophobia, Nyctalopia OMIM:614186
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy OMIM:617879
Morm Syndrome
Photophobia, Progressive night blindness, Visual impairment, Truncal obesity ORPHA:75858
Achromatopsia
Monochromacy, Reduced visual acuity, Central scotoma, Hypermetropia, Color vision defect, Myopia,... ORPHA:49382
Cone-Rod Dystrophy 21
Photophobia, Nyctalopia, Reduced visual acuity OMIM:616502
Leber Congenital Amaurosis 2
Blindness, Reduced visual acuity, Eye poking, Photophobia, Nyctalopia OMIM:204100
Oligocone Trichromacy
Photophobia ORPHA:75378
Deafness, Autosomal Recessive 109
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Episodic Ataxia, Type 6
Diplopia, Truncal ataxia, Episodic ataxia, Phonophobia, Photophobia OMIM:612656
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina OMIM:615725
Achromatopsia 3
Monochromacy, Achromatopsia, Moderately reduced visual acuity, Dyschromatopsia, Severely reduced ... OMIM:262300
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia ORPHA:1243
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... ORPHA:320401
Albinism, Ocular, With Late-Onset Sensorineural Deafness
Photophobia, Visual impairment OMIM:300650
Cone-Rod Dystrophy 15
Progressive visual loss, Color vision defect, Constriction of peripheral visual field, Photophobi... OMIM:613660
Albinism, Oculocutaneous, Type Ib
Photophobia, Visual impairment OMIM:606952
Stargardt Disease
Retinal pigment epithelial atrophy, Abnormal foveal morphology, Retinal thinning, Abnormal choroi... ORPHA:827
Retinitis Pigmentosa 73
Rod-cone dystrophy, Peripapillary atrophy, Macular crystals, Retinal atrophy, Bone spicule pigmen... OMIM:616544
Albinism, Oculocutaneous, Type V
Photophobia OMIM:615312
Retinitis Pigmentosa 38
Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy, Optic disc pallor OMIM:613862
Macular Dystrophy, Patterned, 1
Photophobia, Nyctalopia, Metamorphopsia, Reduced visual acuity OMIM:169150
Ceroid Lipofuscinosis, Neuronal, 3
Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Macular degeneration, Vacuolated lymphoc... OMIM:204200
Retinal Cone Dystrophy 4
Photophobia, Constriction of peripheral visual field, Visual impairment, Reduced visual acuity OMIM:610478
Retinitis Pigmentosa 4
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:613731
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Retinal Cone Dystrophy 3B
Reduced visual acuity, Scotoma, Myopia, Photophobia, Nyctalopia OMIM:610356
Epithelial Recurrent Erosion Dystrophy
Photophobia, Visual impairment OMIM:122400
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Retinal degeneration, Cystoid macular degeneration, Macular atrophy OMIM:267760
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Leber Congenital Amaurosis 1
Blindness, Reduced visual acuity, Eye poking, Photophobia, Nyctalopia OMIM:204000
Deafness, Autosomal Dominant 64
Sensorineural hearing impairment, Tinnitus OMIM:614152
Deafness, Autosomal Dominant 67
Sensorineural hearing impairment, Tinnitus OMIM:616340
Deafness, Autosomal Dominant 36
Sensorineural hearing impairment, Tinnitus OMIM:606705
Deafness, Y-Linked 1
Sensorineural hearing impairment, Tinnitus OMIM:400043
Deafness, Autosomal Dominant 43
Sensorineural hearing impairment, Tinnitus OMIM:608394
Deafness, Autosomal Dominant 33
Sensorineural hearing impairment, Tinnitus OMIM:614211
Deafness, Autosomal Dominant 72
Sensorineural hearing impairment, Tinnitus OMIM:617606
Deafness, Autosomal Dominant 82
Sensorineural hearing impairment, Tinnitus OMIM:619804
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Short stature, Retinal dystrophy, Bone sp... OMIM:616108
Glaucoma 3, Primary Congenital, D
Photophobia OMIM:613086
Otosclerosis 7
Conductive hearing impairment, Otosclerosis, Progressive hearing impairment, Abnormality of the a... OMIM:611572
Oliver-Mcfarlane Syndrome
Retinal degeneration, Delayed puberty, Severe short stature, Pigmentary retinopathy OMIM:275400
Ceroid Lipofuscinosis, Neuronal, 1
Retinal degeneration, Macular degeneration, Vacuolated lymphocytes, Optic atrophy OMIM:256730
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Atten... OMIM:616188
Macular Dystrophy, Corneal
Photophobia OMIM:217800
Retinitis Pigmentosa 90
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... OMIM:619007
Retinitis Pigmentosa 3
Reduced visual acuity, Color vision defect, Constriction of peripheral visual field, Ring scotoma... OMIM:300029
Deafness, Autosomal Dominant 16
Adult onset sensorineural hearing impairment, Tinnitus OMIM:603964
Leber Congenital Amaurosis 6
Severely reduced visual acuity, High hypermetropia, Photophobia OMIM:613826
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... OMIM:600791
Bothnia Retinal Dystrophy
Retinal dystrophy, Macular degeneration OMIM:607475
Retinal Cone Dystrophy 3A
Reduced visual acuity, Dyschromatopsia, Photophobia, High myopia, Nyctalopia OMIM:610024
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment OMIM:601455
Leber Congenital Amaurosis 7
Photophobia, Visual impairment OMIM:613829
Bardet-Biedl Syndrome 16
Retinal degeneration, Rod-cone dystrophy, Short stature OMIM:615993
Deafness, X-Linked 2
Stapes ankylosis, Conductive hearing impairment, Dilatated internal auditory canal, Progressive s... OMIM:304400
Boucher-Neuhauser Syndrome
Gait ataxia, Progressive visual loss, Photophobia, Ataxia OMIM:215470
Corneal Dystrophy, Meesmann, 1
Photophobia, Reduced visual acuity OMIM:122100
Cone-Rod Dystrophy, X-Linked, 3
Reduced visual acuity, Central scotoma, Color vision defect, Visual impairment, Myopia, Photophobia OMIM:300476
Retinitis Pigmentosa 79
Photophobia, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity OMIM:617460
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Retinitis Pigmentosa 88
Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... OMIM:618826
Cone-Rod Dystrophy 16
Progressive visual loss, Photophobia, Nyctalopia, Reduced visual acuity OMIM:614500
Oculocutaneous Albinism, Type Viii
Photophobia, Reduced visual acuity OMIM:619165
Familial Infantile Bilateral Striatal Necrosis
Astrocytosis, Basal ganglia gliosis, Optic atrophy ORPHA:225154
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Bilateral sensorineural hearing impairment, Tinnitus, High-frequency hearing impairment OMIM:605594
Keratoendotheliitis Fugax Hereditaria
Blurred vision, Photophobia OMIM:148200
Retinitis Pigmentosa 19
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:601718
Corneal Dystrophy, Meesmann, 2
Photophobia OMIM:618767
Central Retinal Vein Occlusion
Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne... ORPHA:411527
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis OMIM:600795
Migraine With Or Without Aura, Susceptibility To, 12
Photophobia, Phonophobia OMIM:611706
Migraine With Or Without Aura, Susceptibility To, 1
Photophobia, Phonophobia OMIM:157300
Migraine With Or Without Aura, Susceptibility To, 10
Photophobia, Phonophobia OMIM:610208
Migraine With Or Without Aura, Susceptibility To, 11
Photophobia, Phonophobia OMIM:610209
Migraine With Or Without Aura, Susceptibility To, 2
Photophobia, Phonophobia OMIM:300125
Migraine With Or Without Aura, Susceptibility To, 3
Photophobia, Phonophobia OMIM:607498
Migraine Without Aura, Susceptibility To, 4
Photophobia, Phonophobia OMIM:607501
Migraine With Or Without Aura, Susceptibility To, 5
Photophobia, Phonophobia OMIM:607508
Chiari Malformation Type I
Gait ataxia, Paresthesia, Diplopia, Hyperacusis, Unsteady gait, Photophobia OMIM:118420
Microphthalmia, Isolated 5
High hypermetropia, Photophobia, Nyctalopia, Reduced visual acuity OMIM:611040
Oculocutaneous Albinism Type 6
Photophobia, Reduced visual acuity ORPHA:370097
Ceroid Lipofuscinosis, Neuronal, 2
Retinal degeneration OMIM:204500
Sporadic Creutzfeldt-Jakob Disease
Astrocytosis, Gliosis ORPHA:204
Migraine With Or Without Aura, Susceptibility To, 6
Photophobia, Phonophobia OMIM:607516
Retinitis Pigmentosa 27
Rod-cone dystrophy, Macular edema, Macular atrophy, Peripapillary chorioretinal atrophy, Choriore... OMIM:613750
Irvan Syndrome
Vitreous floaters, Blurred vision, Photophobia, Reduced visual acuity ORPHA:209943
Retinitis Pigmentosa 51
Reduced visual acuity, Obesity, Visual impairment, Photophobia, High myopia, Nyctalopia OMIM:613464
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Choriocapillaris atrophy, Retinal thinning, Retinal pigment e... ORPHA:41751
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Oculopharyngodistal Myopathy 3
Photophobia, Ataxia OMIM:619473
Thiel-Behnke Corneal Dystrophy
Photophobia, Slow decrease in visual acuity ORPHA:98960
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Mohr-Tranebjaerg Syndrome
Cerebral visual impairment, Reduced visual acuity, Constriction of peripheral visual field, Visua... OMIM:304700
Leber Congenital Amaurosis 9
Reduced visual acuity, Ultra-low vision, Photophobia, Ultra-low vision with retained light percep... OMIM:608553
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Mohr-Tranebjaerg Syndrome
Global brain atrophy, Postlingual sensorineural hearing impairment, Sensorineural hearing impairm... ORPHA:52368
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Total intestinal aganglionosis, Heari... OMIM:600501
Vestibulocochlear Dysfunction, Progressive
Progressive hearing impairment, Tinnitus, Vestibular areflexia OMIM:193005
Xeroderma Pigmentosum Variant
Melanoma, Squamous cell carcinoma, Photophobia, Basal cell carcinoma ORPHA:90342
Idiopathic Intracranial Hypertension
Diplopia, Blurred vision, Obesity, Visual loss, Scintillating scotoma, Photophobia ORPHA:238624
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Lattice retinal degeneration, Rhegmatogenous retinal detachment OMIM:619248
Retinitis Pigmentosa 84
Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:618220
Retinitis Pigmentosa
Blindness, Progressive night blindness, Obesity, Visual impairment, Photophobia ORPHA:791
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Photophobia ORPHA:139450
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis ORPHA:275864
Birdshot Chorioretinopathy
Vitreous floaters, Blurred vision, Visual loss, Arcuate scotoma, Blind-spot enlargment, Photophobia ORPHA:179
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Patent ductus arteriosus, Peripheral retinal atrophy, Retinal dystrophy, Absent foveal reflex OMIM:615147
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Lattice retinal degeneration, Vitreous floaters, Peripheral vitreoretinal deg... OMIM:614292
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema OMIM:180104
Corneal Dystrophy, Congenital Stromal
Progressive visual loss, Photophobia OMIM:610048
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Neovascular Glaucoma
Visual loss, Visual acuity test abnormality, Photophobia ORPHA:94058
Albinism, Oculocutaneous, Type Vii
High hypermetropia, Photophobia, Reduced visual acuity OMIM:615179
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... OMIM:618613
Foxg1 Syndrome
Decreased body weight, Inability to walk, Stereotypical hand wringing, Choreoathetosis, Abnormal ... ORPHA:561854
Retinitis Pigmentosa 77
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:617304
Progressive Bifocal Chorioretinal Atrophy
Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy ORPHA:75373
Ceroid Lipofuscinosis, Neuronal, 5
Retinal degeneration, Vacuolated lymphocytes OMIM:256731
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Astrocytosis OMIM:611087
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Cone/cone-rod dystrophy, Short stature, Retinal degeneration, Sideroblastic anemia... OMIM:249270
Macular Degeneration, Age-Related, 3
Macular degeneration, Choroidal neovascularization, Drusen OMIM:608895
Bardet-Biedl Syndrome 4
Retinal degeneration, Rod-cone dystrophy OMIM:615982
Retinitis Pigmentosa 80
Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:617781
Bardet-Biedl Syndrome 21
Rod-cone dystrophy, Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, Hyperautofluoresc... OMIM:617406
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Deafness, Autosomal Dominant 80
Morphological abnormality of the semicircular canal, Dilated vestibule of the inner ear, Cochlear... OMIM:619274
Sjogren-Larsson Syndrome
Retinal pigment epithelial atrophy, Retinal thinning, Macular crystals, Short stature, Macular de... OMIM:270200
Hartnup Disease
Skin rash, Photophobia, Ataxia, Abnormality of vision ORPHA:2116
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration OMIM:264420
Spinocerebellar Ataxia Type 7
Hemeralopia, Somatic sensory dysfunction, Blindness, Dysdiadochokinesis, Reduced visual acuity, A... ORPHA:94147
Leber Congenital Amaurosis 4
Attenuation of retinal blood vessels, Optic disc pallor, Macular atrophy, Cone/cone-rod dystrophy OMIM:604393
Nephronophthisis 15
Retinal degeneration OMIM:614845
Cystinosis
Gait disturbance, Abnormal repetitive mannerisms, Failure to thrive, Visual impairment, Photophobia ORPHA:213
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Pruritus, Photophobia, Eczema OMIM:618535
Mucolipidosis Type Iv
Photophobia, Gait disturbance, Ataxia ORPHA:578
Retinitis Pigmentosa 10
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:180105
Mucolipidosis Iv
Photophobia, Visual impairment OMIM:252650
Sjögren-Larsson Syndrome
Myopia, Photophobia ORPHA:816
Diabetes And Deafness, Maternally Inherited
Retinal degeneration, Pigmentary retinopathy OMIM:520000
Nephronophthisis 14
Retinal degeneration OMIM:614844
Oculocutaneous Albinism Type 1
Amblyopia, Reduced visual acuity, Actinic keratosis, Neoplasm of the skin, Photophobia ORPHA:352731
Bardet-Biedl Syndrome 2
Retinal degeneration, Rod-cone dystrophy OMIM:615981
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Temporal optic disc pallor, Sensorineural hearing impairment... ORPHA:1215
Acrocraniofacial Dysostosis
Abnormality of the outer ear, Abnormal auditory evoked potentials, Conductive hearing impairment,... OMIM:201050
Jalili Syndrome
Monochromacy, Scotoma, Photophobia, Visual impairment, High hypermetropia, Nyctalopia OMIM:217080
Retinitis Pigmentosa 23
Mild myopia, Color vision defect, Constriction of peripheral visual field, Severely reduced visua... OMIM:300424
Vernal Keratoconjunctivitis
Pruritus, Photophobia ORPHA:70476
Retinitis Pigmentosa 41
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:612095
Inherited Creutzfeldt-Jakob Disease
Astrocytosis ORPHA:282166
Amaurosis-Hypertrichosis Syndrome
High hypermetropia, Photophobia, Visual impairment ORPHA:1021
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Visual loss, Failure to thrive, Myopia, Photophobia, Nyctalopia ORPHA:5
Retinitis Pigmentosa And Erythrocytic Microcytosis
Retinal pigment epithelial atrophy, Anemia, Retinal atrophy, Elliptocytosis, Epiretinal membrane,... OMIM:616959
Autism Spectrum Disorder Due To Auts2 Deficiency
Auditory sensitivity, Small for gestational age, Repetitive compulsive behavior, Eczema, Abnormal... ORPHA:352490
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Short stature, Retinal degeneration, Macular atrophy, Attenuation of retinal blood vessels, Growt... OMIM:619260
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Intrauterine growth retardation, Pancytopenia, Postnatal growth retardation OMIM:600546
Retinitis Pigmentosa 37
Tritanomaly, Red-green dyschromatopsia, Reduced visual acuity, Constriction of peripheral visual ... OMIM:611131
Flotch Syndrome
Photophobia, Neoplasm of the skin ORPHA:2045
Abetalipoproteinemia
Retinal degeneration, Retinopathy, Acanthocytosis OMIM:200100
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Retinal degen... ORPHA:364055
Severe Intellectual Disability And Progressive Spastic Paraplegia
Amblyopia, Abnormal repetitive mannerisms, Difficulty walking, Overweight, Waddling gait ORPHA:280763
Retinal Arteries, Tortuosity Of
Visual loss, Photophobia OMIM:180000
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Photoreceptor layer loss on macular OCT, Retinal thinning, Retinal pigment epithelial mottling, M... OMIM:145350
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Optic atrophy, Short stature, Macular atrophy, Optic disc pallor, Intrauterine growt... OMIM:616171
Oguchi Disease
Macular degeneration, Rod-cone dystrophy, Congenital stationary night blindness, Mizuo phenomenon ORPHA:75382
Jalili Syndrome
Color vision defect, Photophobia, Visual impairment ORPHA:1873
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Reduced visual acuity, Ataxia, Dysmetria, Constriction of peripheral visual field, Photophobia OMIM:618527
Retinitis Pigmentosa 58
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:613617
Alopecia-Intellectual Disability Syndrome
Photophobia ORPHA:2850
Giant Axonal Neuropathy 1, Autosomal Recessive
Photophobia, Distal sensory impairment, Steppage gait OMIM:256850
Dyskeratosis, Hereditary Benign Intraepithelial
Photophobia, Visual impairment OMIM:127600
Cataract 2, Multiple Types
Amblyopia, Photophobia, Visual impairment OMIM:604307
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Macular degeneration OMIM:612948
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration OMIM:193230
Retinal Dystrophy With Or Without Macular Staphyloma
Photophobia, Central scotoma, Truncal obesity, Reduced visual acuity, Nyctalopia OMIM:617547
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Hematological neoplasm, Photopsia, Testicular neoplasm, Cutaneous melan... ORPHA:71505
Ataxia-Telangiectasia-Like Disorder 2
Unsteady gait, Photophobia, Ataxia OMIM:615919
Retinitis Pigmentosa 72
Reduced visual acuity, Constriction of peripheral visual field, Photophobia, High myopia, Nyctalopia OMIM:616469
Tyrosinemia Type 2
Visual loss, Photophobia, Ataxia ORPHA:28378
Cockayne Syndrome Type 2
Gait disturbance, Ataxia, Difficulty walking, Visual impairment, Photophobia ORPHA:90322
Corneal Dystrophy, Reis-Bucklers Type
Photophobia, Reduced visual acuity OMIM:608470
Retinitis Pigmentosa 56
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:613581
Lyme Disease
Amaurosis fugax, Photophobia, Paresthesia ORPHA:91546
Albinism, Ocular, Type I
Photophobia, Visual impairment OMIM:300500
Spinocerebellar Ataxia 7
Macular degeneration, Pigmentary retinopathy, Optic atrophy OMIM:164500
Retinitis Punctata Albescens
Retinal atrophy, Retinal pigment epithelial mottling, Yellow/white lesions of the retina, Macular... ORPHA:52427
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation... OMIM:618195
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Myopia, Failure to thrive, Photophobia, Erythroderma OMIM:242150
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Ocular Albinism With Late-Onset Sensorineural Deafness
Photophobia, Visual impairment ORPHA:1000
Chromosome 16Q12 Duplication Syndrome
Tritanomaly, Reduced visual acuity, Paracentral scotoma, Photophobia, High myopia, Nyctalopia OMIM:619649
Leber Congenital Amaurosis 15
Hemeralopia, Reduced visual acuity, Hypermetropia, Color vision defect, Eye poking, Constriction ... OMIM:613843
Babesiosis
Photophobia ORPHA:108
Cone-Rod Dystrophy 10
Progressive visual loss, Photophobia, Peripheral visual field loss, Nyctalopia OMIM:610283
Retinitis Pigmentosa 45
Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina OMIM:613767
Lymphedema-Distichiasis Syndrome
Patent ductus arteriosus, Fibrosarcoma, Webbed neck, Recurrent skin infections, Photophobia ORPHA:33001
Retinitis Pigmentosa 25
Photophobia, Constriction of peripheral visual field, Nyctalopia OMIM:602772
Hsd10 Mitochondrial Disease
Retinal degeneration, Optic atrophy OMIM:300438
X-Linked Recessive Ocular Albinism
Myopia, Photophobia, Neoplasm of the skin, Visual impairment ORPHA:54
Spastic Paraplegia 11, Autosomal Recessive
Retinal degeneration, Macular degeneration OMIM:604360
Meningococcal Meningitis
Skin rash, Photophobia, Paresthesia ORPHA:33475
Xeroderma Pigmentosum, Complementation Group D
Choreoathetosis, Photophobia, Melanoma, Ataxia OMIM:278730
Christianson Syndrome
Truncal ataxia, Abnormal repetitive mannerisms, Cachexia, Gait ataxia ORPHA:85278
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Oculocutaneous Albinism Type 5
Photophobia, Reduced visual acuity ORPHA:370091
Poretti-Boltshauser Syndrome
Retinal atrophy, Retinal dystrophy, Retinal thinning OMIM:615960
Bardet-Biedl Syndrome 9
Retinal degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of... OMIM:615986
Hypotrichosis With Juvenile Macular Degeneration
Macular degeneration, Short stature, Abnormality of macular pigmentation ORPHA:1573
Late-Onset Retinal Degeneration
Peripapillary atrophy, Macular degeneration, Choroidal neovascularization, Multifocal subretinal ... ORPHA:67042
Ichthyosis, Congenital, Autosomal Recessive 11
Pruritus, Photophobia OMIM:602400
Cockayne Syndrome Type 3
Retinal hemorrhage, Retinal atrophy, Retinal degeneration, Retinal dystrophy, Mild postnatal grow... ORPHA:90324
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Photophobia, Folliculitis OMIM:612843
Xeroderma Pigmentosum, Variant Type
Cutaneous melanoma, Squamous cell carcinoma, Photophobia, Basal cell carcinoma OMIM:278750
Paroxysmal Hemicrania
Photophobia, Phonophobia ORPHA:157835
Classic Progressive Supranuclear Palsy Syndrome
Gait imbalance, Falls, Akinesia, Blurred vision, Photophobia ORPHA:240071
Developmental And Epileptic Encephalopathy 28
Retinal degeneration, Optic atrophy OMIM:616211
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Photophobia, Folliculitis OMIM:308800
Boutonneuse Fever
Skin rash, Maculopapular exanthema, Photophobia ORPHA:83313
Cone-Rod Dystrophy 8
Photophobia, Blindness, Peripheral visual field loss, Nyctalopia OMIM:605549
Cone-Rod Dystrophy 6
Hemeralopia, Reduced visual acuity, Progressive night blindness, Dyschromatopsia, Photophobia, Pe... OMIM:601777
Oculocutaneous Albinism Type 1B
Squamous cell carcinoma of the skin, Melanoma, Basal cell carcinoma, Visual impairment, Photophobia ORPHA:79434
Paternal Uniparental Disomy Of Chromosome 1
Progressive visual loss, Obesity, Dyschromatopsia, Pain insensitivity, Photophobia ORPHA:251004
Infantile Krabbe Disease
Blindness, Cachexia, Visual loss, Failure to thrive, Hyperesthesia, Photophobia ORPHA:206436
Bilateral Acute Depigmentation Of The Iris
Photophobia ORPHA:69736
Retinitis Pigmentosa 60
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:613983
Cone-Rod Dystrophy And Hearing Loss 1
Hemeralopia, Photophobia, Visual impairment, Dyschromatopsia OMIM:617236
Xeroderma Pigmentosum, Complementation Group E
Melanoma, Photophobia, Basal cell carcinoma, Squamous cell carcinoma of the skin OMIM:278740
Postorgasmic Illness Syndrome
Blurred vision, Photophobia ORPHA:279947
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Photophobia, Laryngeal papilloma OMIM:617388
Oculocutaneous Albinism Type 4
Photophobia, Neoplasm of the skin, Reduced visual acuity ORPHA:79435
Kid Syndrome
Recurrent bacterial skin infections, Recurrent cutaneous fungal infections, Trichilemmoma, Neopla... ORPHA:477
Bardet-Biedl Syndrome 17
Rod-cone dystrophy, Cone/cone-rod dystrophy, Retinal degeneration, Macular atrophy, Bone spicule ... OMIM:615994
Autoimmune Polyendocrinopathy Type 1
Photophobia, Chronic mucocutaneous candidiasis, Visual impairment ORPHA:3453
Ocular Cystinosis
Photophobia, Visual impairment ORPHA:411641
Corneal Dystrophy, Thiel-Behnke Type
Photophobia OMIM:602082
Axial Spondylometaphyseal Dysplasia
Rod-cone dystrophy, Peripheral retinal degeneration, Optic atrophy, Short stature, Retinal dystro... ORPHA:168549
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Photophobia, High myopia OMIM:614457
Epithelial Recurrent Erosion Dystrophy
Progressive visual loss, Photophobia, Blurred vision ORPHA:293381
Alg6-Cdg
Retinal degeneration, Rod-cone dystrophy ORPHA:79320
Xeroderma Pigmentosum, Complementation Group C
Squamous cell carcinoma of the skin, Actinic keratosis, Basal cell carcinoma, Cutaneous melanoma,... OMIM:278720
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Vitreous floaters, Abnormal chorioretinal morphology, Vitritis OMIM:605808
Primary Dystonia, Dyt13 Type
Abnormal repetitive mannerisms ORPHA:98807
Oculocerebral Hypopigmentation Syndrome, Preus Type
Photophobia, Ataxia ORPHA:2720
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Visual loss, Photophobia, Failure to thrive in infancy, Visual impairment OMIM:301220
Ceroid Lipofuscinosis, Neuronal, 10
Retinal atrophy, Rod-cone dystrophy OMIM:610127
Cone-Rod Dystrophy 2
Retinal pigment epithelial atrophy, Cone/cone-rod dystrophy, Bone spicule pigmentation of the ret... OMIM:120970
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Failure to thrive, Abnormal repetitive mannerisms, Ataxia, Myelodysplasia ORPHA:927
Scrub Typhus
Skin rash, Photophobia ORPHA:83317
Lamb-Shaffer Syndrome
Cerebral visual impairment, Amblyopia, Ataxia, Abnormal repetitive mannerisms ORPHA:530983
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Retinal degeneration, Splenomegaly, Short stature OMIM:615630
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Retinal degeneration OMIM:616896
Cockayne Syndrome Type 1
Gait disturbance, Ataxia, Failure to thrive, Difficulty walking, Visual impairment, Photophobia ORPHA:90321
Idiopathic Panuveitis
Blindness, Reduced visual acuity, Vitreous floaters, Blurred vision, Photophobia, Abnormality of ... ORPHA:280921
Progressive Non-Fluent Aphasia
Astrocytosis ORPHA:100070
Juvenile Neuronal Ceroid Lipofuscinosis
Retinal degeneration, Optic disc pallor, Pigmentary retinopathy ORPHA:79264
Alacrima, Congenital, Autosomal Recessive
Photophobia OMIM:601549
Acrodermatitis Enteropathica
Weight loss, Pustule, Failure to thrive, Visual impairment, Photophobia ORPHA:37
Trichothiodystrophy 1, Photosensitive
Small for gestational age, Squamous cell carcinoma, Basal cell carcinoma, Erythroderma, Photophobia OMIM:601675
Hereditary Mucoepithelial Dysplasia
Photophobia ORPHA:1839
Arnold-Chiari Malformation Type I
Gait ataxia, Somatic sensory dysfunction, Diplopia, Dysesthesia, Progressive cerebellar ataxia, P... ORPHA:268882
Lattice Corneal Dystrophy Type I
Visual loss, Photophobia, High myopia, Slow decrease in visual acuity ORPHA:98964
Acute Zonal Occult Outer Retinopathy
Retinal pigment epithelial atrophy, Macular drusen, Rod-cone dystrophy, Abnormal choroid morpholo... ORPHA:284454
Scheie Syndrome
Retinal degeneration OMIM:607016
Chediak-Higashi Syndrome
Recurrent bacterial skin infections, Reduced visual acuity, Gait disturbance, Ataxia, Photophobia OMIM:214500
Oculocutaneous Albinism Type 1A
Photophobia, Basal cell carcinoma, Squamous cell carcinoma of the skin, Visual impairment ORPHA:79431
Xeroderma Pigmentosum
Papilloma, Thin skin, Neoplasm of the eye, Melanoma, Ataxia, Failure to thrive, Neoplasm, Photoph... ORPHA:910
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Non-Specific Early-Onset Epileptic Encephalopathy
Retinal degeneration, Short stature, Optic atrophy ORPHA:442835
Hypobetalipoproteinemia, Familial, 1
Retinal degeneration, Rod-cone dystrophy, Acanthocytosis OMIM:615558
Congenital Tufting Enteropathy
Failure to thrive, Photophobia, Weight loss ORPHA:92050
Late Infantile Neuronal Ceroid Lipofuscinosis
Blindness, Inability to walk, Gait disturbance, Ataxia, Abnormal repetitive mannerisms, Visual lo... ORPHA:168491
Aceruloplasminemia
Retinal degeneration, Anemia OMIM:604290
Achromatopsia 2
Hemeralopia, Reduced visual acuity, Achromatopsia, Photophobia, Nyctalopia OMIM:216900
Sunct Syndrome
Photophobia ORPHA:57145
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Cerebral visual impairment, Inability to walk, Abnormal repetitive mannerisms ORPHA:411986
Intellectual Disability, Buenos-Aires Type
Photophobia, Spastic gait ORPHA:3079
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Recurrent bacterial skin infections, Squamous cell carcinoma, Photophobia, Blindness OMIM:148210
48,Xxyy Syndrome
Lymphoma, Abnormal repetitive mannerisms, Obesity, Ataxia ORPHA:10
Reversible Cerebral Vasoconstriction Syndrome
Blurred vision, Photophobia, Phonophobia ORPHA:284388
Granular Corneal Dystrophy Type I
Reduced visual acuity, Photophobia, Visual impairment ORPHA:98962
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:370022
Alstrom Syndrome
Blindness, Visual loss, Constriction of peripheral visual field, Truncal obesity, Photophobia OMIM:203800
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... ORPHA:206443
Leukonychia Totalis