Not currently registered for phenotyping at IMPC

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

Gene Summary

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

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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

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
Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant 3
Abnormal speech discrimination, Hearing impairment OMIM:619832
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... OMIM:609129
Deafness, Autosomal Recessive 1B
Vestibular dysfunction, Hearing impairment OMIM:612645
Deafness, Autosomal Recessive 84A
Vestibular dysfunction, Hearing impairment OMIM:613391
Deafness, Autosomal Dominant 65
Vestibular dysfunction, 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 91
Progressive hearing impairment OMIM:613453
Deafness, Autosomal Recessive 102
Profound hearing impairment OMIM:615974
Deafness, Autosomal Dominant 18
Progressive hearing impairment OMIM:606012
Deafness, Autosomal Dominant 73
Hearing impairment OMIM:617663
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Recessive 89
Hearing impairment OMIM:613916
Deafness, Autosomal Dominant 74
Hearing impairment OMIM:618140
Deafness, Autosomal Recessive 33
Hearing impairment OMIM:607239
Deafness, Autosomal Dominant 56
Hearing impairment OMIM:615629
Deafness, Autosomal Dominant 54
Hearing impairment OMIM:615649
Deafness, Autosomal Dominant 52
Hearing impairment OMIM:607683
Deafness, Autosomal Recessive 106
Hearing impairment OMIM:617637
Deafness, Autosomal Recessive 107
Hearing impairment OMIM:617639
Deafness, Autosomal Dominant 15
Hearing impairment OMIM:602459
Deafness, Autosomal Recessive 18B
Hearing impairment OMIM:614945
Deafness, Autosomal Recessive 65
Hearing impairment OMIM:610248
Deafness, Autosomal Recessive 86
Hearing impairment OMIM:614617
Deafness, Autosomal Dominant 4B
Hearing impairment OMIM:614614
Deafness, Autosomal Dominant 24
Hearing impairment OMIM:606282
Deafness, Autosomal Recessive 6
Hearing impairment OMIM:600971
Deafness, Autosomal Dominant 51
Hearing impairment OMIM:613558
Deafness, Autosomal Recessive 96
Hearing impairment OMIM:614414
Deafness, Autosomal Recessive 93
Hearing impairment OMIM:614899
Deafness, Autosomal Recessive 55
Hearing impairment OMIM:609952
Deafness, Autosomal Recessive 47
Hearing impairment OMIM:609946
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex 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
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hearing impairment OMIM:615266
Deafness, Autosomal Recessive 30
Progressive hearing impairment, Progressive sensorineural hearing impairment OMIM:607101
Usher Syndrome, Type Id
Vestibular dysfunction, Hearing impairment OMIM:601067
Deafness, Autosomal Recessive 74
Hearing impairment OMIM:613718
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 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
Keratoderma, Palmoplantar, With Deafness
Hearing impairment OMIM:148350
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... OMIM:616515
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Deafness, X-Linked 4
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
Vestibular dysfunction, Hearing impairment OMIM:614934
Deafness, Autosomal Recessive 84B
Sensorineural hearing impairment, Vestibular hypofunction OMIM:614944
Deafness, Autosomal Recessive 110
Sensorineural hearing impairment, Vestibular dysfunction OMIM:618094
Deafness, Autosomal Recessive 1A
Sensorineural hearing impairment, Vestibular dysfunction OMIM:220290
Deafness, Autosomal Dominant 71
Sensorineural hearing impairment, Vestibular dysfunction OMIM:617605
Deafness, Autosomal Dominant 81
Sensorineural hearing impairment, Vestibular dysfunction OMIM:619500
Deafness, Autosomal Recessive 7
Sensorineural hearing impairment, Vestibular dysfunction OMIM:600974
Deafness, Autosomal Dominant 20
Bilateral sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:604717
Deafness, Autosomal Dominant 6
Low-frequency sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:600965
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 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment OMIM:601869
Deafness, Autosomal Recessive 79
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:613307
Cochleosaccular Degeneration With Progressive Cataracts
Hearing impairment OMIM:120040
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Deafness, Autosomal Recessive 17
Sensorineural hearing impairment OMIM:603010
Deafness, Autosomal Recessive 8
Sensorineural hearing impairment OMIM:601072
Deafness, Autosomal Recessive 26
Sensorineural hearing impairment OMIM:605428
Deafness, Autosomal Dominant 48
Sensorineural hearing impairment OMIM:607841
Deafness, Autosomal Dominant 40
Sensorineural hearing impairment OMIM:616357
Deafness, Autosomal Dominant 37
Sensorineural hearing impairment OMIM:618533
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment OMIM:618778
Deafness, Autosomal Dominant 76
Sensorineural hearing impairment OMIM:618787
Deafness, Autosomal Recessive 14
Sensorineural hearing impairment OMIM:603678
Deafness, Autosomal Recessive 27
Sensorineural hearing impairment OMIM:605818
Deafness, Autosomal Recessive 68
Sensorineural hearing impairment OMIM:610419
Deafness, Autosomal Recessive 21
Sensorineural hearing impairment OMIM:603629
Deafness, Autosomal Recessive 66
Sensorineural hearing impairment OMIM:610212
Deafness, Autosomal Recessive 5
Sensorineural hearing impairment OMIM:600792
Deafness, Autosomal Recessive 59
Sensorineural hearing impairment OMIM:610220
Deafness, Autosomal Dominant 59
Sensorineural hearing impairment OMIM:612642
Deafness, Autosomal Recessive 61
Sensorineural hearing impairment OMIM:613865
Deafness, Autosomal Recessive 117
Sensorineural hearing impairment OMIM:619174
Deafness, Autosomal Recessive 22
Sensorineural hearing impairment OMIM:607039
Deafness, Autosomal Dominant 21
Sensorineural hearing impairment OMIM:607017
Deafness, Autosomal Dominant 68
Sensorineural hearing impairment OMIM:616707
Deafness, Autosomal Recessive 97
Sensorineural hearing impairment OMIM:616705
Deafness, Autosomal Recessive 42
Sensorineural hearing impairment OMIM:609646
Deafness, Autosomal Dominant 66
Sensorineural hearing impairment OMIM:616969
Deafness, Autosomal Dominant 44
Sensorineural hearing impairment OMIM:607453
Deafness, Neural, Congenital Moderate
Sensorineural hearing impairment OMIM:221500
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, Autosomal Recessive 112
Sensorineural hearing impairment OMIM:618257
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 Dominant 12
Sensorineural hearing impairment OMIM:601543
Deafness, Autosomal Recessive 16
Sensorineural hearing impairment OMIM:603720
Deafness, Autosomal Recessive 31
Sensorineural hearing impairment OMIM:607084
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Dominant 27
Sensorineural hearing impairment OMIM:612431
Deafness, Autosomal Recessive 98
Sensorineural hearing impairment OMIM:614861
Deafness, Autosomal Recessive 116
Sensorineural hearing impairment OMIM:619093
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533
Intellectual Developmental Disorder, X-Linked 46
Sensorineural hearing impairment OMIM:300436
Deafness, Autosomal Dominant 47
Sensorineural hearing impairment OMIM:608652
Deafness, Autosomal Dominant 28
Sensorineural hearing impairment OMIM:608641
Deafness, Autosomal Dominant 53
Sensorineural hearing impairment OMIM:609965
Deafness, Autosomal Dominant 30
Sensorineural hearing impairment OMIM:606451
Deafness, Autosomal Recessive 18A
Sensorineural hearing impairment OMIM:602092
Deafness, Autosomal Recessive 53
Sensorineural hearing impairment OMIM:609706
Deafness, Autosomal Recessive 51
Sensorineural hearing impairment OMIM:609941
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment OMIM:605583
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Usher Syndrome, Type Iiib
Photophobia, Ataxia, Visual impairment, Truncal ataxia OMIM:614504
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
Exudative Vitreoretinopathy 7
Retinal degeneration, Vitreoretinopathy, Retinal hole OMIM:617572
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Photophobia, Ataxia, Color vision defect, Reduced visual acuity, Blind-spot enlargment, Central s... OMIM:616732
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Macular Dystrophy, Patterned, 3
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy OMIM:617111
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Macular dystrophy, Peripheral retinal atrophy, Drusen OMIM:136550
Cone-Rod Dystrophy 7
Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular atrophy OMIM:603649
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Liberfarb Syndrome
Retinal degeneration, Short stature, Retinal pigment epithelial mottling, Optic disc pallor, Bone... OMIM:618889
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... OMIM:608051
Stargardt Disease 3
Macular dystrophy, Macular flecks, Macular atrophy OMIM:600110
Meniere Disease
Tinnitus, Vertigo, Hearing impairment OMIM:156000
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Deafness, Autosomal Dominant 41
Tinnitus, Hearing impairment, Progressive sensorineural hearing impairment OMIM:608224
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Migraine, Familial Hemiplegic, 3
Photophobia, Blindness, Hemiplegia, Hemiparesis OMIM:609634
Posterior Cortical Atrophy
Photophobia, Ataxia, Color vision defect, Speech apraxia, Limb apraxia, Cerebral visual impairmen... ORPHA:54247
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid OMIM:153700
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Cone-Rod Dystrophy 22
Perifoveal ring of hyperautofluorescence, Absent foveal reflex, Hypoautofluorescent retinal lesio... OMIM:619531
Episodic Ataxia Type 6
Photophobia, Hemiplegia, Ataxia, Diplopia, Reduced visual acuity, Slurred speech ORPHA:209967
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... OMIM:180210
Deafness, Autosomal Dominant 50
Sensorineural hearing impairment, Tinnitus, Progressive hearing impairment, Progressive sensorine... OMIM:613074
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy OMIM:609923
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Photophobia, Reduced visual acuity, Ataxia OMIM:618970
Photophobia, Reduced visual acuity, Color vision test abnormality, Tritanomaly ORPHA:88629
Cone Dystrophy 4
Photophobia, Reduced visual acuity, Visual impairment, Dyschromatopsia OMIM:613093
Achromatopsia 4
Photophobia, Visual impairment, Achromatopsia OMIM:613856
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Deafness, Autosomal Dominant 58
Tinnitus, Hearing impairment OMIM:615654
Late-Onset Retinal Degeneration
Sub-RPE deposits, Retinopathy, Retinal degeneration, Rod-cone dystrophy OMIM:605670
Corneal Dystrophy, Gelatinous Drop-Like
Photophobia, Reduced visual acuity, Blurred vision, Visual impairment OMIM:204870
Non-Syndromic Genetic Deafness
Postlingual sensorineural hearing impairment, Conductive hearing impairment, High-frequency heari... ORPHA:87884
Blue Cone Monochromacy
Photophobia, Blue cone monochromacy, Reduced visual acuity, Visual impairment, Myopia OMIM:303700
Optic Atrophy 6
Photophobia, Visual impairment, Red-green dyschromatopsia OMIM:258500
Optic Atrophy 12
Photophobia, Reduced visual acuity, Abnormal Ishihara plate test, Dyschromatopsia OMIM:618977
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Retinitis Pigmentosa 13
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus OMIM:600059
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... ORPHA:85128
Cone-Rod Dystrophy 11
Macular atrophy, Bull's eye maculopathy, Macular degeneration, Cone/cone-rod dystrophy OMIM:610381
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Cone-Rod Synaptic Disorder, Congenital Nonprogressive
Photophobia, Congenital stationary night blindness, Visual impairment, Color vision defect OMIM:610427
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
Photophobia, Visual impairment ORPHA:75374
Retinal Cone Dystrophy 1
Bull's eye maculopathy, Retinal degeneration, 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
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Cone-Rod Dystrophy 13
Photophobia, Reduced visual acuity, Visual impairment, Color vision defect OMIM:608194
N-Acetylaspartate Deficiency
Motor stereotypy, Decreased body weight, Truncal ataxia, Unsteady gait OMIM:614063
Cone-Rod Dystrophy 17
Photophobia, Central scotoma, Visual impairment OMIM:615163
Macular Degeneration, Age-Related, 1
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... OMIM:603075
Cone Dystrophy 3
Photophobia, Reduced visual acuity, Progressive visual loss OMIM:602093
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear OMIM:618915
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Photophobia, Neoplasm, Gait ataxia ORPHA:438134
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy OMIM:613862
Episodic Ataxia, Type 6
Photophobia, Hemiplegia, Diplopia, Truncal ataxia, Hemiparesis, Slurred speech, Episodic ataxia OMIM:612656
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Retinal degeneration OMIM:238340
Progressive Cone Dystrophy
Photophobia, Visual impairment, Color vision defect ORPHA:1871
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... OMIM:143200
Central Areolar Choroidal Dystrophy
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... ORPHA:75377
Choroidal Dystrophy, Central Areolar 2
Photophobia OMIM:613105
Achromatopsia 7
Photophobia, Reduced visual acuity, Central scotoma, Achromatopsia OMIM:616517
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Retinitis Pigmentosa 33
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:610359
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Growth delay, Retinal degeneration OMIM:614322
Macular Dystrophy, Vitelliform, 3
Photophobia, Reduced visual acuity, Metamorphopsia, Visual impairment OMIM:608161
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
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
Blue Cone Monochromatism
Photophobia, Visual impairment, Blue cone monochromacy ORPHA:16
Cone Rod Dystrophy
Photophobia, Visual impairment, Nyctalopia, Color vision defect ORPHA:1872
Cone-Rod Dystrophy, X-Linked, 1
Photophobia, Nyctalopia, Color vision defect, Reduced visual acuity, Visual impairment, Myopia OMIM:304020
Boucher-Neuhauser Syndrome
Photophobia, Ataxia, Intention tremor, Gait ataxia, Spasticity, Progressive visual loss OMIM:215470
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... OMIM:601369
Night Blindness, Congenital Stationary, Type 1H
Photophobia, Hypermetropia, Mild myopia, Nyctalopia OMIM:617024
Red Skin Pigment Anomaly Of New Guinea
Photophobia OMIM:266350
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormal auditory evoked potentials ORPHA:99852
Albinism, Oculocutaneous, Type Vi
Photophobia, Reduced visual acuity, Visual impairment OMIM:113750
Retinitis Pigmentosa 11
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... OMIM:600138
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Photophobia, Reduced visual acuity, Central scotoma, Nyctalopia OMIM:616079
Spondylometaphyseal Dysplasia, Axial
Retinal degeneration, Rod-cone dystrophy, Splenomegaly, Short stature, Cone/cone-rod dystrophy, D... OMIM:602271
Leber Congenital Amaurosis 14
Photophobia, Nyctalopia, Congenital blindness, Reduced visual acuity, Falls OMIM:613341
Corneal Dystrophy, Fleck
Photophobia OMIM:121850
Leber Congenital Amaurosis 2
Photophobia, Nyctalopia, Reduced visual acuity, Eye poking, Blindness OMIM:204100
Retinitis Pigmentosa 17
Photophobia, Nyctalopia, Color vision defect OMIM:600852
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Albinism, Oculocutaneous, Type Vii
Photophobia OMIM:615179
Photophobia, Hypermetropia, Color vision test abnormality, Color vision defect, Reduced visual ac... ORPHA:49382
Cone-Rod Dystrophy 21
Photophobia, Reduced visual acuity, Nyctalopia OMIM:616502
Oligocone Trichromacy
Photophobia ORPHA:75378
Mohr-Tranebjaerg Syndrome
Photophobia, Constriction of peripheral visual field, Reduced visual acuity, Tremor, Spasticity, ... OMIM:304700
Macular Dystrophy, Patterned, 1
Photophobia, Metamorphopsia, Nyctalopia OMIM:169150
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Albinism, Ocular, With Late-Onset Sensorineural Deafness
Photophobia, Visual impairment OMIM:300650
Leber Congenital Amaurosis 16
Photophobia, Reduced visual acuity, Visual impairment, Nyctalopia OMIM:614186
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal atrophy, Re... OMIM:618144
Albinism, Oculocutaneous, Type Ib
Photophobia, Visual impairment OMIM:606952
Achromatopsia 3
Photophobia, High myopia, Monochromacy, Dyschromatopsia, Achromatopsia, Severely reduced visual a... OMIM:262300
Cone-Rod Dystrophy 15
Photophobia, Nyctalopia, Constriction of peripheral visual field, Color vision defect, Progressiv... OMIM:613660
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... ORPHA:320401
Retinitis Pigmentosa 37
Photophobia, Red-green dyschromatopsia, Nyctalopia, Tritanomaly OMIM:611131
Albinism, Oculocutaneous, Type V
Photophobia OMIM:615312
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia ORPHA:1243
Stargardt Disease
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... ORPHA:827
Leber Congenital Amaurosis 1
Photophobia, Nyctalopia, Reduced visual acuity, Eye poking, Blindness OMIM:204000
Migraine With Or Without Aura, Susceptibility To, 6
Photophobia, Hemiplegia, Hemiparesis OMIM:607516
Retinal Cone Dystrophy 4
Photophobia, Reduced visual acuity, Visual impairment, Constriction of peripheral visual field OMIM:610478
Epithelial Recurrent Erosion Dystrophy
Photophobia, Visual impairment OMIM:122400
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia OMIM:617862
Ceroid Lipofuscinosis, Neuronal, 3
Vacuolated lymphocytes, Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Optic atr... OMIM:204200
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Jalili Syndrome
Photophobia, Monochromacy, Nyctalopia OMIM:217080
Oculopharyngodistal Myopathy 3
Photophobia, Tremor, Ataxia OMIM:619473
Macular Dystrophy, Corneal
Photophobia OMIM:217800
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Deafness, Autosomal Dominant 64
Tinnitus, Sensorineural hearing impairment OMIM:614152
Deafness, Autosomal Dominant 67
Tinnitus, Sensorineural hearing impairment OMIM:616340
Deafness, Autosomal Dominant 36
Tinnitus, Sensorineural hearing impairment OMIM:606705
Deafness, Autosomal Dominant 72
Sensorineural hearing impairment, Tinnitus OMIM:617606
Deafness, Autosomal Dominant 82
Sensorineural hearing impairment, Tinnitus OMIM:619804
Deafness, Y-Linked 1
Tinnitus, Sensorineural hearing impairment OMIM:400043
Deafness, Autosomal Dominant 43
Tinnitus, Sensorineural hearing impairment OMIM:608394
Deafness, Autosomal Dominant 33
Tinnitus, Sensorineural hearing impairment OMIM:614211
Chiari Malformation Type I
Photophobia, Diplopia, Babinski sign, Gait ataxia, Unsteady gait, Paresthesia, Lower limb spasticity OMIM:118420
Glaucoma 3, Primary Congenital, D
Photophobia OMIM:613086
Retinitis Pigmentosa 79
Photophobia, Reduced visual acuity, Nyctalopia, Constriction of peripheral visual field OMIM:617460
Retinal Cone Dystrophy 3B
Photophobia, Scotoma, Nyctalopia, Myopia OMIM:610356
Otosclerosis 7
Otosclerosis, Conductive hearing impairment, Progressive hearing impairment, Abnormality of the a... OMIM:611572
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Peripheral retinal atrophy, Absent foveal reflex, Patent ductus arteriosus, Retinal dystrophy OMIM:615147
Leber Congenital Amaurosis 6
Photophobia, High hypermetropia, Severely reduced visual acuity OMIM:613826
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Failure to thrive, Difficulty walking, Spasticity OMIM:617393
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Severe short stature, Retinal degeneration, Delayed puberty OMIM:275400
Developmental And Epileptic Encephalopathy 58
Motor stereotypy, Spastic diplegia, Inability to walk, Visual impairment OMIM:617830
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Retinal degeneration, Macular atrophy OMIM:267760
Deafness, Autosomal Dominant 16
Tinnitus, Adult onset sensorineural hearing impairment OMIM:603964
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy, Inability to walk OMIM:606053
Leber Congenital Amaurosis 7
Photophobia, Visual impairment OMIM:613829
Cone-Rod Dystrophy, X-Linked, 3
Photophobia, Color vision defect, Reduced visual acuity, Central scotoma, Visual impairment, Myopia OMIM:300476
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Retinitis Pigmentosa 3
Photophobia, Ring scotoma, Nyctalopia, Constriction of peripheral visual field, Color vision defe... OMIM:300029
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Motor stereotypy, Ataxia, Poor coordination, Falls, Chorea, Paroxysmal dyskinesia OMIM:619150
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601455
Retinitis Pigmentosa 90
Cystoid macular edema, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, ... OMIM:619007
Corneal Dystrophy, Meesmann, 1
Photophobia, Reduced visual acuity OMIM:122100
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Severe short stature, Retinal degeneration OMIM:225755
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Optic atrophy, Macular atrophy OMIM:250450
Deafness, X-Linked 2
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... OMIM:304400
Retinal Cone Dystrophy 3A
Photophobia, Nyctalopia, Reduced visual acuity, High myopia, Dyschromatopsia OMIM:610024
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Motor stereotypy, Ataxia OMIM:618709
Progressive Non-Fluent Aphasia
Astrocytosis ORPHA:100070
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Stereotypical hand wringing, Chorea, Cerebral visual impairment OMIM:618760
Oculocutaneous Albinism, Type Viii
Photophobia, Reduced visual acuity OMIM:619165
Keratoendotheliitis Fugax Hereditaria
Photophobia, Blurred vision OMIM:148200
Familial Infantile Bilateral Striatal Necrosis
Optic atrophy, Basal ganglia gliosis, Astrocytosis ORPHA:225154
Cone-Rod Dystrophy 16
Photophobia, Reduced visual acuity, Progressive visual loss, Nyctalopia OMIM:614500
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Bestrophinopathy, Autosomal Recessive
Retinal flecks, Retinal pigment epithelial atrophy OMIM:611809
Retinitis Pigmentosa 88
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... OMIM:618826
Mohr-Tranebjaerg Syndrome
Photophobia, Inability to walk, Color vision defect, Ankle clonus, Babinski sign, Abnormal pyrami... ORPHA:52368
Corneal Dystrophy, Meesmann, 2
Photophobia OMIM:618767
Baker-Gordon Syndrome
Motor stereotypy, Ataxia, Inability to walk, Hyperkinetic movements, Choreoathetosis, Involuntary... OMIM:618218
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Tinnitus, High-frequency hearing impairment, Bilateral sensorineural hearing impairment OMIM:605594
Irvan Syndrome
Photophobia, Reduced visual acuity, Blurred vision, Vitreous floaters ORPHA:209943
Oculocutaneous Albinism Type 6
Photophobia, Reduced visual acuity ORPHA:370097
Ceroid Lipofuscinosis, Neuronal, 2
Retinal degeneration OMIM:204500
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Hypermetropia, Ataxia, Inability to walk, Motor stereotypy, Decreased body weig... OMIM:617695
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis OMIM:600795
Classic Progressive Supranuclear Palsy Syndrome
Photophobia, Gait imbalance, Akinesia, Parkinsonism with favorable response to dopaminergic medic... ORPHA:240071
Leber Congenital Amaurosis 9
Photophobia, Hypermetropia, Ultra-low vision with retained light perception, Nyctalopia, Color vi... OMIM:608553
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... OMIM:611040
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration OMIM:616211
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Astrocytosis OMIM:172500
Sporadic Creutzfeldt-Jakob Disease
Gliosis, Astrocytosis ORPHA:204
Intellectual Developmental Disorder, Autosomal Recessive 58
Motor stereotypy, Spastic diplegia, Choreoathetosis OMIM:617270
Retinitis Pigmentosa 19
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:601718
Retinitis Pigmentosa 84
Macular coloboma, Rod-cone dystrophy, Macular atrophy OMIM:618220
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Photophobia, Ataxia, Dysmetria, Constriction of peripheral visual field, Reduced visual acuity, B... OMIM:618527
Retinitis Pigmentosa 27
Rod-cone dystrophy, Chorioretinal atrophy, Macular edema, Peripapillary chorioretinal atrophy, Ma... OMIM:613750
Thiel-Behnke Corneal Dystrophy
Photophobia, Slow decrease in visual acuity ORPHA:98960
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Retinal degeneration, Macular degeneration OMIM:256730
Bardet-Biedl Syndrome 16
Retinal degeneration, Rod-cone dystrophy OMIM:615993
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, Facial palsy, EEG abnormality OMIM:617519
Abcd Syndrome
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... OMIM:600501
Bietti Crystalline Dystrophy
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... ORPHA:41751
Idiopathic Intracranial Hypertension
Photophobia, Diplopia, Blurred vision, Visual loss, Scintillating scotoma, Obesity ORPHA:238624
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Optic atrophy, Progressive sensorineural hearing impairment OMIM:125250
Vestibulocochlear Dysfunction, Progressive
Tinnitus, Progressive hearing impairment, Vestibular areflexia OMIM:193005
Mucolipidosis Iv
Photophobia, Babinski sign, Visual impairment, Spastic tetraplegia OMIM:252650
Retinal Dystrophy And Obesity
Retinal detachment, Peripapillary atrophy, Retinal dystrophy, Retinal pigment epithelial atrophy OMIM:616188
Sjögren-Larsson Syndrome
Photophobia, Spastic diplegia, Abnormal pyramidal sign, Spasticity, Myopia ORPHA:816
Morm Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:75858
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Lattice retinal degeneration, Rhegmatogenous retinal detachment OMIM:619248
Xeroderma Pigmentosum Variant
Squamous cell carcinoma, Melanoma, Basal cell carcinoma, Photophobia ORPHA:90342
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis ORPHA:275864
Retinitis Pigmentosa 73
Retinal atrophy, Rod-cone dystrophy OMIM:616544
Retinitis Pigmentosa
Photophobia, Visual impairment, Progressive night blindness, Obesity, Blindness ORPHA:791
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Short stature, Retinopathy, Optic atrophy, Optic disc pallor, Macular atrophy, Intrauterine growt... OMIM:616171
Charcot-Marie-Tooth Disease, Type 4C
Axonal degeneration, Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial ne... OMIM:601596
Chromosome 3Q29 Deletion Syndrome
Motor stereotypy, Failure to thrive, Gait ataxia, Small for gestational age OMIM:609425
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Photophobia ORPHA:139450
Birdshot Chorioretinopathy
Photophobia, Blurred vision, Visual loss, Blind-spot enlargment, Vitreous floaters, Arcuate scotoma ORPHA:179
Spinocerebellar Ataxia Type 7
Photophobia, Hemeralopia, Ataxia, Failure to thrive, Dysmetria, Reduced visual acuity, Dysdiadoch... ORPHA:94147
Retinitis Pigmentosa 80
Macular atrophy OMIM:617781
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Motor stereotypy OMIM:617787
Foxg1 Syndrome
Motor stereotypy, Inability to walk, Decreased body weight, Myoclonus, Hyperkinetic movements, St... ORPHA:561854
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Peripapillary atrophy, Macular degeneration OMIM:618195
Retinitis Pigmentosa 51
Photophobia, Nyctalopia, Reduced visual acuity, High myopia, Visual impairment OMIM:613464
Corneal Dystrophy, Congenital Stromal
Photophobia, Progressive visual loss OMIM:610048
Giant Axonal Neuropathy 1, Autosomal Recessive
Photophobia, Abnormal pyramidal sign, Distal sensory impairment, Spastic paraplegia, Steppage gait OMIM:256850
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Sjogren-Larsson Syndrome
Photophobia, Spastic paraparesis, Color vision defect, Reduced visual acuity, Spasticity OMIM:270200
Developmental And Epileptic Encephalopathy 107
Motor stereotypy, Visual impairment OMIM:620033
Migraine With Or Without Aura, Susceptibility To, 12
Photophobia OMIM:611706
Migraine With Or Without Aura, Susceptibility To, 1
Photophobia OMIM:157300
Migraine With Or Without Aura, Susceptibility To, 10
Photophobia OMIM:610208
Migraine With Or Without Aura, Susceptibility To, 11
Photophobia OMIM:610209
Migraine With Or Without Aura, Susceptibility To, 2
Photophobia OMIM:300125
Migraine With Or Without Aura, Susceptibility To, 3
Photophobia OMIM:607498
Migraine Without Aura, Susceptibility To, 4
Photophobia OMIM:607501
Migraine With Or Without Aura, Susceptibility To, 5
Photophobia OMIM:607508
Neovascular Glaucoma
Photophobia, Visual loss, Visual acuity test abnormality ORPHA:94058
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Hartnup Disease
Photophobia, Ataxia, Abnormality of vision, Skin rash ORPHA:2116
Tyrosinemia Type 2
Photophobia, Tremor, Ataxia, Visual loss ORPHA:28378
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Macular atrophy OMIM:180104
Bardet-Biedl Syndrome 21
Rod-cone dystrophy, Retinal thinning, Hypoplasia of the fovea, Cone/cone-rod dystrophy, Retinal a... OMIM:617406
Xeroderma Pigmentosum, Complementation Group A
Photophobia, Ataxia, Melanoma, Choreoathetosis, Spasticity OMIM:278700
Hyperprolinemia, Type I
Motor stereotypy, Ataxia OMIM:239500
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Astrocytosis OMIM:611087
Retinitis Pigmentosa 86
Cystoid macular edema, Nummular pigmentation of the fundus, Attenuation of retinal blood vessels,... OMIM:618613
Asperger Syndrome, X-Linked, Susceptibility To, 2
Motor stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Motor stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Motor stereotypy OMIM:608631
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Severe Intellectual Disability And Progressive Spastic Paraplegia
Motor stereotypy, Babinski sign, Amblyopia, Spastic dysarthria, Difficulty walking, Progressive s... ORPHA:280763
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Retinal degeneration, Short stature, Cone/cone-rod dystrophy, Optic atrophy... OMIM:249270
Macular Degeneration, Age-Related, 3
Choroidal neovascularization, Macular degeneration, Drusen OMIM:608895
Mucolipidosis Type Iv
Photophobia, Ataxia, Gait disturbance ORPHA:578
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... OMIM:619274
Bardet-Biedl Syndrome 4
Retinal degeneration, Rod-cone dystrophy OMIM:615982
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Motor stereotypy, Inability to walk, Involuntary movements, Spasticity OMIM:617820
Photophobia, Motor stereotypy, Failure to thrive, Abnormal pyramidal sign, Gait disturbance, Visu... ORPHA:213
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Involuntary movements, Postural tremor ORPHA:98807
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy OMIM:300271
Motor stereotypy OMIM:209850
Autism, Susceptibility To, X-Linked 3
Motor stereotypy OMIM:300496
Autism, Susceptibility To, 8
Motor stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
Motor stereotypy OMIM:300425
Chromosome 15Q11-Q13 Duplication Syndrome
Motor stereotypy OMIM:608636
Intellectual Developmental Disorder, Autosomal Recessive 73
Gait ataxia, Patent ductus arteriosus, Recurrent hand flapping, Poor coordination OMIM:619717
Retinal Dystrophy With Or Without Macular Staphyloma
Photophobia, Central scotoma, Nyctalopia OMIM:617547
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate OMIM:264420
Atypical Rett Syndrome
Loss of ambulation, Inability to walk, Hand apraxia, Pill-rolling tremor, Stereotypical hand wrin... ORPHA:3095
Oguchi Disease
Mizuo phenomenon, Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy ORPHA:75382
Corneodermatoosseous Syndrome
Photophobia, Erythroderma OMIM:122440
Cataract 2, Multiple Types
Photophobia, Visual impairment, Amblyopia OMIM:604307
Infantile Krabbe Disease
Photophobia, Failure to thrive, Opisthotonus, Ankle clonus, Decerebrate rigidity, Spastic diplegi... ORPHA:206436
Leber Congenital Amaurosis 4
Optic disc pallor, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atrophy OMIM:604393
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Motor stereotypy, Inability to walk, Stereotypical hand wringing, Chorea, Gait ataxia, Spasticity OMIM:618917
Cockayne Syndrome Type 2
Photophobia, Ataxia, Limb hypertonia, Gait disturbance, Difficulty walking, Lower limb spasticity... ORPHA:90322
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Failure to thrive, Spasticity ORPHA:500545
Oculocutaneous Albinism Type 1
Photophobia, Actinic keratosis, Reduced visual acuity, Amblyopia, Neoplasm of the skin ORPHA:352731
Amaurosis-Hypertrichosis Syndrome
Photophobia, Visual impairment, High hypermetropia ORPHA:1021
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Tremor, Motor stereotypy, Spastic tetraparesis OMIM:619470
Smith-Magenis syndrome
Motor stereotypy DECIPHER:8
Nephronophthisis 14
Retinal degeneration OMIM:614844
Retinitis Pigmentosa 77
Retinal atrophy, Cystoid macular edema, Rod-cone dystrophy OMIM:617304
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Chorioretinal coloboma, Retinal dystrophy, Macular atrophy OMIM:212550
Vernal Keratoconjunctivitis
Photophobia, Pruritus ORPHA:70476
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal optic disc pallor... ORPHA:1215
Retinitis Pigmentosa And Erythrocytic Microcytosis
Photoreceptor layer loss on macular OCT, Decreased mean corpuscular volume, Anisocytosis, Retinal... OMIM:616959
Bardet-Biedl Syndrome 2
Retinal degeneration, Rod-cone dystrophy OMIM:615981
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Leber Congenital Amaurosis 15
Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy, Optic disc pallor OMIM:613843
Retinitis Pigmentosa 10
Rod-cone dystrophy, Attenuation of retinal blood vessels, Geographic atrophy, Optic disc pallor, ... OMIM:180105
Retinal Arteries, Tortuosity Of
Photophobia, Visual loss OMIM:180000
Ataxia-Telangiectasia-Like Disorder 2
Photophobia, Ataxia, Unsteady gait OMIM:615919
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... OMIM:619725
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the outer ear, Ab... OMIM:201050
Inherited Creutzfeldt-Jakob Disease
Astrocytosis ORPHA:282166
Ceroid Lipofuscinosis, Neuronal, 5
Retinal degeneration OMIM:256731
Alopecia-Intellectual Disability Syndrome
Photophobia ORPHA:2850
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Motor stereotypy, Hypertonia, Ataxia, Myoclonus, Tremor, Gait ataxia, Impaired tactile sensation OMIM:619092
Retinitis Pigmentosa 41
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retino... OMIM:612095
Nephronophthisis 15
Retinal degeneration OMIM:614845
Retinopathy, Retinal degeneration, Acanthocytosis OMIM:200100
Flotch Syndrome
Photophobia, Neoplasm of the skin ORPHA:2045
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy, Ataxia, Inability to walk, Myoclonus, Hyperkinetic movements, Chorea, Choreoath... OMIM:619317
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Photophobia, Failure to thrive, Nyctalopia, Visual loss, Myopia ORPHA:5
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia OMIM:600546
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Motor stereotypy, Obesity, Speech apraxia, Failure to thrive in infancy OMIM:613670
Autosomal Recessive Non-Syndromic Intellectual Disability
Motor stereotypy, Spasticity, Chorea, Cerebral visual impairment ORPHA:88616
Xeroderma Pigmentosum, Complementation Group D
Photophobia, Ataxia, Melanoma, Choreoathetosis, Spasticity OMIM:278730
Jalili Syndrome
Photophobia, Visual impairment, Color vision defect ORPHA:1873
Cancer-Associated Retinopathy
Thymoma, Constriction of peripheral visual field, Photopsia, Progressive visual field defects, Cu... ORPHA:71505
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Photoreceptor layer loss on macular OCT, Retinal pigment epithelial mottling, Peripheral retinal ... OMIM:145350
Retinitis Pigmentosa 58
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:613617
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Motor stereotypy, Hypertonia, Spastic tetraplegia OMIM:615282
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Rhegmatog... ORPHA:364055
Dyskeratosis, Hereditary Benign Intraepithelial
Photophobia, Visual impairment OMIM:127600
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy OMIM:613767
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots OMIM:193230
Snijders Blok-Campeau Syndrome
Broad-based gait, Hypermetropia, Motor stereotypy, Speech apraxia, Unsteady gait, Cerebral visual... OMIM:618205
Paternal Uniparental Disomy Of Chromosome 1
Photophobia, Pain insensitivity, Myoclonus, Progressive visual loss, Obesity, Dyschromatopsia ORPHA:251004
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Retinal degeneration, Short stature, Attenuation of retinal blood vessels, Geographic atrophy, Op... OMIM:619260
Corneal Dystrophy, Reis-Bucklers Type
Photophobia, Reduced visual acuity OMIM:608470
Lyme Disease
Paresthesia, Amaurosis fugax, Photophobia ORPHA:91546
Intellectual Developmental Disorder, Autosomal Dominant 7
Motor stereotypy, Ataxia, Small for gestational age, Stereotypical hand wringing, Gait disturbanc... OMIM:614104
Albinism, Ocular, Type I
Photophobia, Visual impairment OMIM:300500
Retinitis Pigmentosa 72
Photophobia, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity, High myopia OMIM:616469
Cdkl5-Deficiency Disorder
Gait disturbance, Impaired pain sensation, Difficulty walking, Stereotypical hand wringing ORPHA:505652
Intellectual Developmental Disorder, Autosomal Dominant 45
Motor stereotypy, Slender build, Recurrent hand flapping, Skin rash, Myoclonus, Cerebral palsy, C... OMIM:617600
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Macular degeneration OMIM:612948
Xq28 (MECP2) duplication
Motor stereotypy, Failure to thrive, Inability to walk, Progressive spasticity, Gait ataxia DECIPHER:45
Ocular Albinism With Late-Onset Sensorineural Deafness
Photophobia, Visual impairment ORPHA:1000
Chromosome 16Q12 Duplication Syndrome
Photophobia, Nyctalopia, Tritanomaly, Reduced visual acuity, High myopia, Paracentral scotoma OMIM:619649
Supranuclear Palsy, Progressive, 2
Photophobia, Gait imbalance, Akinesia, Bradykinesia, Diplopia, Retrocollis, Blurred vision, Parki... OMIM:609454
Autism Spectrum Disorder Due To Auts2 Deficiency
Motor stereotypy, Hypertonia, Small for gestational age, Cerebral palsy, Eczema, Spasticity, Repe... ORPHA:352490
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Spinocerebellar Ataxia 7
Optic atrophy, Pigmentary retinopathy, Macular degeneration OMIM:164500
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Retinal degeneration OMIM:214980
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Photophobia, Failure to thrive, Erythroderma, Myopia OMIM:242150
Scrub Typhus
Photophobia, Tremor, Skin rash ORPHA:83317
Cone-Rod Dystrophy 10
Photophobia, Progressive visual loss, Nyctalopia, Peripheral visual field loss OMIM:610283
X-Linked Recessive Ocular Albinism
Photophobia, Myopia, Visual impairment, Neoplasm of the skin ORPHA:54
Retinitis Punctata Albescens
Absent foveal reflex, Cystoid macular edema, Abnormality of fundus pigmentation, Retinal pigment ... ORPHA:52427
Photophobia ORPHA:108
Retinitis Pigmentosa 56
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal pigment... OMIM:613581
Hsd10 Mitochondrial Disease
Optic atrophy, Retinal degeneration OMIM:300438
Intellectual Developmental Disorder, X-Linked 109
Recurrent hand flapping, Stereotypical body rocking, Poor coordination OMIM:309548
Oculocutaneous Albinism Type 5
Photophobia, Reduced visual acuity ORPHA:370091
Lymphedema-Distichiasis Syndrome
Photophobia, Fibrosarcoma, Recurrent skin infections, Patent ductus arteriosus, Webbed neck ORPHA:33001
Fraxe Intellectual Disability
Clumsiness, Recurrent hand flapping, Stereotypical body rocking ORPHA:100973
Arnold-Chiari Malformation Type I
Photophobia, Progressive cerebellar ataxia, Diplopia, Babinski sign, Somatic sensory dysfunction,... ORPHA:268882
Meningococcal Meningitis
Paresthesia, Skin rash, Photophobia ORPHA:33475
Oculocerebral Hypopigmentation Syndrome, Preus Type
Photophobia, Hypertonia, Ataxia ORPHA:2720
Spastic Paraplegia 11, Autosomal Recessive
Retinal degeneration, Macular degeneration OMIM:604360
Poretti-Boltshauser Syndrome
Retinal thinning, Retinal atrophy, Retinal dystrophy OMIM:615960
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal degenerati... OMIM:615986
Late-Onset Retinal Degeneration
Macular degeneration, Patchy atrophy of the retinal pigment epithelium, Chorioretinal atrophy, Fu... ORPHA:67042
Retinitis Pigmentosa 25
Photophobia, Nyctalopia, Constriction of peripheral visual field OMIM:602772
Cone-Rod Dystrophy 6
Photophobia, Hemeralopia, Nyctalopia, Reduced visual acuity, Progressive night blindness, Periphe... OMIM:601777
Ichthyosis, Congenital, Autosomal Recessive 11
Photophobia, Pruritus OMIM:602400
Hypotrichosis With Juvenile Macular Degeneration
Abnormality of macular pigmentation, Macular degeneration, Short stature ORPHA:1573
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Motor stereotypy, Hypermetropia, Difficulty walking, Gait ataxia, Spasticity, Unsteady gait, Visu... OMIM:617807
Cockayne Syndrome Type 1
Photophobia, Failure to thrive, Ataxia, Gait disturbance, Tremor, Difficulty walking, Lower limb ... ORPHA:90321
Cockayne Syndrome Type 3
Retinal degeneration, Mild postnatal growth retardation, Splenomegaly, Retinal hemorrhage, Retina... ORPHA:90324
Chediak-Higashi Syndrome
Photophobia, Ataxia, Recurrent bacterial skin infections, Reduced visual acuity, Gait disturbance... OMIM:214500
Xeroderma Pigmentosum, Variant Type
Squamous cell carcinoma, Basal cell carcinoma, Photophobia, Cutaneous melanoma OMIM:278750
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Photophobia, Folliculitis OMIM:612843
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Recurrent hand flapping, Poor coordination, Gait disturbance, Tremor, Abnormality of pain... ORPHA:544254
Cone-Rod Dystrophy 8
Photophobia, Blindness, Nyctalopia, Peripheral visual field loss OMIM:605549
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Photophobia OMIM:618535
Cone-Rod Dystrophy And Hearing Loss 1
Photophobia, Dyschromatopsia, Visual impairment, Hemeralopia OMIM:617236
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Photophobia, Folliculitis OMIM:308800
Oculocutaneous Albinism Type 1B
Photophobia, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Visual impairment ORPHA:79434
Postorgasmic Illness Syndrome
Photophobia, Blurred vision ORPHA:279947
Christianson Syndrome