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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

Order Alleles

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
Abnormal speech discrimination, Hearing impairment 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 speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... 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 91
Progressive hearing impairment OMIM:613453
Deafness, Autosomal Recessive 102
Profound hearing impairment OMIM:615974
Deafness, Autosomal Dominant 18
Progressive hearing impairment OMIM:606012
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Recessive 33
Hearing impairment OMIM:607239
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 65
Hearing impairment OMIM:610248
Deafness, Autosomal Dominant 89
Hearing impairment OMIM:620284
Deafness, Autosomal Dominant 88
Hearing impairment OMIM:620283
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 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
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Facial Paresis, Hereditary Congenital, 2
Facial palsy, Hearing impairment OMIM:604185
Deafness, Autosomal Recessive 25
Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Deafness, Autosomal Recessive 30
Progressive sensorineural hearing impairment, Progressive hearing impairment OMIM:607101
Usher Syndrome, Type Id
Abnormal vestibular function, 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
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... 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
Deafness, Autosomal Recessive 70, With Or Without Adult-Onset Neurodegeneration
Abnormal vestibular function, Hearing impairment OMIM:614934
Fibromatosis, Gingival, 1
Hearing impairment OMIM:135300
Deafness, Autosomal Dominant 74
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618140
Deafness, Autosomal Recessive 110
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618094
Deafness, Autosomal Dominant 56
Abnormal vestibular function, Sensorineural hearing impairment OMIM:615629
Deafness, Autosomal Recessive 1A
Abnormal vestibular function, Sensorineural hearing impairment OMIM:220290
Deafness, Autosomal Dominant 71
Abnormal vestibular function, Sensorineural hearing impairment OMIM:617605
Deafness, Autosomal Dominant 81
Abnormal vestibular function, Sensorineural hearing impairment OMIM:619500
Deafness, Autosomal Recessive 7
Abnormal vestibular function, Sensorineural hearing impairment OMIM:600974
Deafness, Autosomal Dominant 20
Progressive sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:604717
Deafness, Autosomal Dominant 6
Progressive sensorineural hearing impairment, Low-frequency sensorineural hearing impairment OMIM:600965
Deafness, Autosomal Dominant 22
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:221745
Deafness, Autosomal Recessive 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment OMIM:601869
Deafness, Autosomal Recessive 79
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:613307
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
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Deafness, Autosomal Dominant 73
Sensorineural hearing impairment OMIM:617663
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 120
Sensorineural hearing impairment OMIM:620238
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, Impaired Intellectual Development, 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 Recessive 16
Sensorineural hearing impairment OMIM:603720
Deafness, Autosomal Dominant 12
Sensorineural hearing impairment OMIM:601543
Deafness, Autosomal Recessive 31
Sensorineural hearing impairment OMIM:607084
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal 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 Dominant 25
Sensorineural hearing impairment OMIM:605583
Deafness, Autosomal Recessive 51
Sensorineural hearing impairment OMIM:609941
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Drusen, Reticular pigmentary degeneration, Retinal dystrophy OMIM:267800
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Macular Dystrophy, Patterned, 3
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy OMIM:617111
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy OMIM:136550
Cone-Rod Dystrophy 7
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy OMIM:603649
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Ataxia, Blind-spot enlargment, Central scotoma, Reduced visual acuity, Photophobia, Color vision ... OMIM:616732
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Short stature, Retinal pigment epithe... OMIM:618889
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Macular Dystrophy, Retinal, 2
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... OMIM:608051
Usher Syndrome, Type Iiib
Photophobia, Visual impairment, Truncal ataxia OMIM:614504
Stargardt Disease 3
Macular dystrophy, Macular atrophy, Macular flecks OMIM:600110
Meniere Disease
Vertigo, Tinnitus, Hearing impairment OMIM:156000
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Macular Dystrophy, Vitelliform, 2
Macular dystrophy, Cystoid macular degeneration, Subretinal fluid OMIM:153700
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
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
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:609923
Deafness, Autosomal Dominant 50
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... OMIM:613074
Morm Syndrome
Hyperactivity, Aggressive behavior, Photophobia, Truncal obesity, Progressive night blindness, Vi... ORPHA:75858
Prolonged Electroretinal Response Suppression 2
Photophobia, Difficulty adjusting to changes in luminance, Mildly reduced visual acuity, Reduced ... OMIM:620344
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Photophobia, Ataxia, Reduced visual acuity OMIM:618970
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Deafness, Autosomal Dominant 58
Tinnitus, Hearing impairment OMIM:615654
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Tritanopia
Photophobia, Tritanomaly, Color vision test abnormality, Reduced visual acuity ORPHA:88629
Achromatopsia 4
Photophobia, Achromatopsia, Visual impairment OMIM:613856
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Corneal Dystrophy, Gelatinous Drop-Like
Photophobia, Reduced visual acuity, Visual impairment, Blurred vision OMIM:204870
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Blue Cone Monochromacy
Blue cone monochromacy, Myopia, Reduced visual acuity, Photophobia, Visual impairment OMIM:303700
N-Acetylaspartate Deficiency
Broad-based gait, Unsteady gait, Truncal ataxia, Decreased body weight, Abnormal repetitive manne... OMIM:614063
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Optic Atrophy 6
Photophobia, Red-green dyschromatopsia, Visual impairment OMIM:258500
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Cone-Rod Dystrophy 11
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy OMIM:610381
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Migraine, Familial Hemiplegic, 3
Photophobia, Blindness, Phonophobia OMIM:609634
Episodic Ataxia Type 6
Ataxia, Diplopia, Reduced visual acuity, Photophobia, Phonophobia ORPHA:209967
Optic Atrophy 12
Photophobia, Dyschromatopsia, Abnormal Ishihara plate test, Reduced visual acuity OMIM:618977
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Bradyopsia
Photophobia, Visual impairment ORPHA:75374
Cone Dystrophy 4
Photophobia, Dyschromatopsia, Reduced visual acuity, Visual impairment OMIM:613093
Cone-Rod Synaptic Disorder, Congenital Nonprogressive
Photophobia, Congenital stationary night blindness, Visual impairment, Color vision defect OMIM:610427
Retinitis Pigmentosa Inversa With Deafness
Rod-cone dystrophy, Retinitis pigmentosa inversa OMIM:268010
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Cone-Rod Dystrophy 13
Photophobia, Reduced visual acuity, Visual impairment, Color vision defect OMIM:608194
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Cone-Rod Dystrophy 17
Photophobia, Central scotoma, Visual impairment OMIM:615163
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Cone Dystrophy 3
Photophobia, Reduced visual acuity, Progressive visual loss OMIM:602093
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible a... OMIM:608636
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... OMIM:143200
Macular Dystrophy, Vitelliform, 3
Metamorphopsia, Reduced visual acuity, Photophobia, Visual impairment, Color vision defect OMIM:608161
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Choroidal Dystrophy, Central Areolar 2
Photophobia OMIM:613105
Posterior Cortical Atrophy
Ataxia, Cerebral visual impairment, Photophobia, Abnormality of vision, Color vision defect ORPHA:54247
Progressive Cone Dystrophy
Photophobia, Visual impairment, Color vision defect ORPHA:1871
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Cone-Rod Dystrophy 5
Photophobia, Central scotoma, Reduced visual acuity, Color vision defect OMIM:600977
Achromatopsia 7
Photophobia, Central scotoma, Achromatopsia, Reduced visual acuity OMIM:616517
Deafness, Autosomal Dominant 86
Abnormal vestibular function, Sensorineural hearing impairment, Tinnitus OMIM:620280
Spinocerebellar Ataxia, Autosomal Recessive 12
Growth delay, Optic atrophy, Retinal degeneration OMIM:614322
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Photophobia, Neoplasm, Gait ataxia ORPHA:438134
Cone-Rod Dystrophy And Hearing Loss 2
Photophobia, Reduced visual acuity OMIM:618358
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Amaurosis Congenita, Cone-Rod Type, With Congenital Hypertrichosis
Photophobia, Visual impairment OMIM:204110
Blue Cone Monochromatism
Photophobia, Blue cone monochromacy, Visual impairment ORPHA:16
Cone Rod Dystrophy
Photophobia, Nyctalopia, Visual impairment, Color vision defect ORPHA:1872
Cone-Rod Dystrophy, X-Linked, 1
Myopia, Nyctalopia, Reduced visual acuity, Photophobia, Visual impairment, Color vision defect OMIM:304020
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Red Skin Pigment Anomaly Of New Guinea
Photophobia OMIM:266350
Night Blindness, Congenital Stationary, Type 1H
Photophobia, Nyctalopia, Hypermetropia, Mild myopia OMIM:617024
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Photophobia, Central scotoma, Nyctalopia, Reduced visual acuity OMIM:616079
Leber Congenital Amaurosis 14
Nyctalopia, Reduced visual acuity, Photophobia, Falls, Congenital blindness OMIM:613341
Hydroa Vacciniforme
Superficial dermal perivascular inflammatory infiltrate, Eczema, Reduced visual acuity, Photophob... ORPHA:330058
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Rhizomelia, Short stature, Splenomegaly, Disproportionate short-trunk sh... OMIM:602271
Corneal Dystrophy, Fleck
Photophobia OMIM:121850
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Albinism, Oculocutaneous, Type Vi
Photophobia, Reduced visual acuity, Visual impairment OMIM:113750
Retinitis Pigmentosa 17
Photophobia, Nyctalopia, Color vision defect OMIM:600852
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617270
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Leber Congenital Amaurosis 16
Nyctalopia, Reduced visual acuity, Visual field defect, Photophobia, Visual impairment OMIM:614186
Achromatopsia
Myopia, Central scotoma, Monochromacy, Reduced visual acuity, Hypermetropia, Color vision test ab... ORPHA:49382
Cone-Rod Dystrophy 24
Pericentral scotoma, Myopia, Scotoma, Nyctalopia, Reduced visual acuity, Photophobia, Color visio... OMIM:620342
Oligocone Trichromacy
Photophobia ORPHA:75378
Cone-Rod Dystrophy 21
Photophobia, Nyctalopia, Reduced visual acuity OMIM:616502
Best Vitelliform Macular Dystrophy
Choroideremia, Cystoid macular degeneration ORPHA:1243
Episodic Ataxia, Type 6
Diplopia, Photophobia, Truncal ataxia, Episodic ataxia, Phonophobia OMIM:612656
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Achromatopsia 3
Moderately reduced visual acuity, Monochromacy, High myopia, Photophobia, Dyschromatopsia, Severe... OMIM:262300
Ceroid Lipofuscinosis, Neuronal, 3
Vacuolated lymphocytes, Optic atrophy, Macular degeneration, Rod-cone dystrophy, Retinal degenera... OMIM:204200
Leber Congenital Amaurosis 2
Blindness, Nyctalopia, Reduced visual acuity, Photophobia, Eye poking OMIM:204100
Cone-Rod Dystrophy 15
Constriction of peripheral visual field, Nyctalopia, Photophobia, Progressive visual loss, Color ... OMIM:613660
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Albinism, Ocular, With Late-Onset Sensorineural Deafness
Photophobia, Visual impairment OMIM:300650
Albinism, Oculocutaneous, Type Ib
Photophobia, Visual impairment OMIM:606952
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ataxia, Aggressive behavior, Chorea, Falls, Inappropriate laughter, Bruxism, Abnormal repetitive ... OMIM:619150
Albinism, Oculocutaneous, Type V
Photophobia OMIM:615312
Retinal Cone Dystrophy 4
Photophobia, Constriction of peripheral visual field, Reduced visual acuity, Visual impairment OMIM:610478
Macular Dystrophy, Patterned, 1
Photophobia, Nyctalopia, Metamorphopsia, Reduced visual acuity OMIM:169150
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... OMIM:613731
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Epithelial Recurrent Erosion Dystrophy
Photophobia, Visual impairment OMIM:122400
Retinal Cone Dystrophy 3B
Myopia, Scotoma, Nyctalopia, Reduced visual acuity, Photophobia OMIM:610356
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Macular atrophy, Retinal degeneration OMIM:267760
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder OMIM:618709
Deafness, Autosomal Dominant 64
Sensorineural hearing impairment, Tinnitus OMIM:614152
Deafness, Autosomal Dominant 67
Sensorineural hearing impairment, Tinnitus OMIM:616340
Deafness, Autosomal Dominant 36
Sensorineural hearing impairment, Tinnitus OMIM:606705
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus OMIM:618915
Deafness, Autosomal Dominant 72
Sensorineural hearing impairment, Tinnitus OMIM:617606
Deafness, Autosomal Dominant 82
Sensorineural hearing impairment, Tinnitus OMIM:619804
Deafness, Y-Linked 1
Sensorineural hearing impairment, Tinnitus OMIM:400043
Deafness, Autosomal Dominant 43
Sensorineural hearing impairment, Tinnitus OMIM:608394
Deafness, Autosomal Dominant 33
Sensorineural hearing impairment, Tinnitus OMIM:614211
Ravine Syndrome
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Chiari Malformation Type I
Diplopia, Unsteady gait, Gait ataxia, Photophobia, Hyperacusis, Paresthesia, Dysphagia OMIM:118420
Ceroid Lipofuscinosis, Neuronal, 1
Macular degeneration, Vacuolated lymphocytes, Optic atrophy, Retinal degeneration OMIM:256730
Deafness, Autosomal Dominant 41
Progressive sensorineural hearing impairment, Tinnitus OMIM:608224
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, S... OMIM:616108
Glaucoma 3, Primary Congenital, D
Photophobia OMIM:613086
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... OMIM:619007
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetitive mannerisms OMIM:617862
Deafness, Autosomal Dominant 16
Adult onset sensorineural hearing impairment, Tinnitus OMIM:603964
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Severe short stature, Retinal degeneration, Delayed puberty OMIM:275400
Leber Congenital Amaurosis 1
Blindness, Nyctalopia, Reduced visual acuity, Photophobia, Eye poking OMIM:204000
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:209850
Macular Dystrophy, Corneal
Photophobia OMIM:217800
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:607373
Retinitis Pigmentosa 3
Constriction of peripheral visual field, Ring scotoma, Nyctalopia, Reduced visual acuity, High my... OMIM:300029
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Abnormal repetitive mannerisms OMIM:606053
Oculopharyngodistal Myopathy 3
Photophobia, Ataxia, Dysphagia OMIM:619473
Mohr-Tranebjaerg Syndrome
Myopia, Constriction of peripheral visual field, Cerebral visual impairment, Reduced visual acuit... OMIM:304700
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Retinal Cone Dystrophy 3A
Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Dyschromatopsia OMIM:610024
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Small for gestational age, Aggressive behavior, Gait ataxia, Failure to thrive, Ab... OMIM:609425
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Leber Congenital Amaurosis 6
Photophobia, High hypermetropia, Severely reduced visual acuity OMIM:613826
Bardet-Biedl Syndrome 16
Rod-cone dystrophy, Short stature, Retinal degeneration OMIM:615993
Corneal Dystrophy, Meesmann, 1
Photophobia, Reduced visual acuity OMIM:122100
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Retinitis Pigmentosa 79
Photophobia, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity OMIM:617460
Boucher-Neuhauser Syndrome
Photophobia, Ataxia, Progressive visual loss, Gait ataxia OMIM:215470
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Cone-Rod Dystrophy, X-Linked, 3
Myopia, Central scotoma, Reduced visual acuity, Photophobia, Visual impairment, Color vision defect OMIM:300476
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Hyperprolinemia, Type I
Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior OMIM:239500
Leber Congenital Amaurosis 7
Photophobia, Visual impairment OMIM:613829
Familial Infantile Bilateral Striatal Necrosis
Basal ganglia gliosis, Optic atrophy, Astrocytosis ORPHA:225154
Cone-Rod Dystrophy 16
Photophobia, Nyctalopia, Reduced visual acuity, Progressive visual loss OMIM:614500
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Tinnitus, Bilateral sensorineural hearing impairment, High-frequency hearing impairment OMIM:605594
Ceroid Lipofuscinosis, Neuronal, 2
Retinal degeneration OMIM:204500
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Photopho... ORPHA:33543
Corneal Dystrophy, Meesmann, 2
Photophobia OMIM:618767
Oculocutaneous Albinism, Type Viii
Photophobia, Reduced visual acuity OMIM:619165
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Keratoendotheliitis Fugax Hereditaria
Photophobia, Blurred vision OMIM:148200
Developmental And Epileptic Encephalopathy 58
Inability to walk, Abnormal repetitive mannerisms, Visual impairment OMIM:617830
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Sporadic Creutzfeldt-Jakob Disease
Gliosis, Astrocytosis ORPHA:204
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
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Microphthalmia, Isolated 5
Photophobia, High hypermetropia, Nyctalopia, Reduced visual acuity OMIM:611040
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... OMIM:613750
Irvan Syndrome
Photophobia, Blurred vision, Reduced visual acuity, Vitreous floaters ORPHA:209943
Oculocutaneous Albinism Type 6
Photophobia, Reduced visual acuity ORPHA:370097
Migraine With Or Without Aura, Susceptibility To, 6
Photophobia, Phonophobia OMIM:607516
Retinitis Pigmentosa 51
Nyctalopia, Reduced visual acuity, Obesity, High myopia, Photophobia, Visual impairment OMIM:613464
Ophthalmoplegia, External, And Myopia
Retinal degeneration, Chorioretinal degeneration OMIM:311000
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis OMIM:600795
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality OMIM:617519
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Leber Congenital Amaurosis 9
Ultra-low vision with retained light perception, Nyctalopia, Reduced visual acuity, Hypermetropia... OMIM:608553
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Caudate atrophy, Abnormal vestibular function, Sensorineural... ORPHA:52368
Thiel-Behnke Corneal Dystrophy
Photophobia, Slow decrease in visual acuity ORPHA:98960
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... OMIM:613670
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Vestibulocochlear Dysfunction, Progressive
Vestibular areflexia, Tinnitus, Progressive hearing impairment OMIM:193005
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Growth delay, Pigmentary retinopathy, Retinal degeneration ORPHA:3363
Idiopathic Intracranial Hypertension
Scintillating scotoma, Diplopia, Visual loss, Obesity, Photophobia, Blurred vision ORPHA:238624
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Hypermetropia, Dysphagia, Self-injuriou... OMIM:617695
Xeroderma Pigmentosum Variant
Photophobia, Melanoma, Basal cell carcinoma, Squamous cell carcinoma ORPHA:90342
Spinocerebellar Ataxia Type 7
Restless legs, Blindness, Somatic sensory dysfunction, Ataxia, Visual loss, Reduced visual acuity... ORPHA:94147
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... OMIM:618220
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Hypermetropia OMIM:620065
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Photophobia ORPHA:139450
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Retinitis Pigmentosa
Blindness, Obesity, Photophobia, Progressive night blindness, Visual impairment ORPHA:791
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Agitation, Aggressive behavior OMIM:617171
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis ORPHA:275864
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema OMIM:180104
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Patent ductus arteriosus, Retinal dystrophy, Peripheral retinal atrophy OMIM:615147
Baker-Gordon Syndrome
Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, Abnormal repetitive manneris... OMIM:618218
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... OMIM:614292
Birdshot Chorioretinopathy
Arcuate scotoma, Blind-spot enlargment, Vitreous floaters, Visual loss, Photophobia, Blurred vision ORPHA:179
Corneal Dystrophy, Congenital Stromal
Photophobia, Progressive visual loss OMIM:610048
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Albinism, Oculocutaneous, Type Vii
Photophobia, High hypermetropia, Reduced visual acuity OMIM:615179
Foxg1 Syndrome
Inability to walk, Bruxism, Stereotypical hand wringing, Choreoathetosis, Difficulty walking, Dec... ORPHA:561854
Neovascular Glaucoma
Photophobia, Visual loss, Visual acuity test abnormality ORPHA:94058
Bardet-Biedl Syndrome 21
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Hyperautoflu... OMIM:617406
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Astrocytosis OMIM:611087
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms, Visual impairment OMIM:620033
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Ceroid Lipofuscinosis, Neuronal, 5
Vacuolated lymphocytes, Retinal degeneration OMIM:256731
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... OMIM:617304
Macular Degeneration, Age-Related, 3
Drusen, Macular degeneration, Choroidal neovascularization OMIM:608895
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Sideroblastic anemia, Short stature, Thiamine-responsive megaloblastic a... OMIM:249270
Bardet-Biedl Syndrome 4
Rod-cone dystrophy, Retinal degeneration OMIM:615982
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels OMIM:617781
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Abnormal r... OMIM:618917
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Short stature, Retinal thinning, Macular de... OMIM:270200
Giant Axonal Neuropathy 1, Autosomal Recessive
Photophobia, Steppage gait, Distal sensory impairment OMIM:256850
Hartnup Disease
Photophobia, Skin rash, Abnormality of vision, Ataxia ORPHA:2116
Cystinosis
Photophobia, Gait disturbance, Polydipsia, Failure to thrive, Abnormal repetitive mannerisms, Vis... ORPHA:213
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration OMIM:264420
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Broad-based gait, Aggressive behavior OMIM:619470
Nephronophthisis 15
Retinal degeneration OMIM:614845
Mucolipidosis Type Iv
Photophobia, Ataxia, Gait disturbance ORPHA:578
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Mucolipidosis Iv
Photophobia, Visual impairment OMIM:252650
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels OMIM:604393
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Pruritus, Photophobia, Eczema OMIM:618535
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Sjögren-Larsson Syndrome
Photophobia, Myopia ORPHA:816
Nephronophthisis 14
Retinal degeneration OMIM:614844
Bardet-Biedl Syndrome 2
Rod-cone dystrophy, Retinal degeneration OMIM:615981
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Oculocutaneous Albinism Type 1
Amblyopia, Reduced visual acuity, Photophobia, Neoplasm of the skin, Actinic keratosis ORPHA:352731
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617820
Vernal Keratoconjunctivitis
Pruritus, Photophobia ORPHA:70476
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Small for gestational age, Ataxia, Failure to thrive in infancy, Gait disturbance,... OMIM:614104
Pick Disease Of Brain
Polyphagia, Hyperorality, Disinhibition, Inappropriate laughter, Abnormal repetitive mannerisms OMIM:172700
Jalili Syndrome
Scotoma, Nyctalopia, Monochromacy, Photophobia, High hypermetropia, Visual impairment OMIM:217080
Inherited Creutzfeldt-Jakob Disease
Astrocytosis ORPHA:282166
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Failure to thrive, Abnormal repetitive mannerisms, Difficulty walking OMIM:617393
Retinitis Pigmentosa 23
Constriction of peripheral visual field, Mild myopia, Photophobia, Severely reduced visual acuity... OMIM:300424
Amaurosis-Hypertrichosis Syndrome
Photophobia, High hypermetropia, Visual impairment ORPHA:1021
Classic Progressive Supranuclear Palsy Syndrome
Impulsivity, Akinesia, Neuromuscular dysphagia, Photophobia, Falls, Gait imbalance, Blurred vision ORPHA:240071
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Epiretinal ... OMIM:616959
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Short stature, Macular atrophy, Optic atrophy, Intrauterine growth retardation... OMIM:616171
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Short stature, Macular coloboma, Macular atrophy, Geographic atrophy, Growth d... OMIM:619260
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia OMIM:600546
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myopia, Visual loss, Nyctalopia, Photophobia, Failure to thrive ORPHA:5
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Small for gestational age, Eczema, Repetitive compulsive behavior, Auditory sensit... ORPHA:352490
Abetalipoproteinemia
Retinopathy, Retinal degeneration, Acanthocytosis OMIM:200100
Oguchi Disease
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon ORPHA:75382
Retinal Arteries, Tortuosity Of
Photophobia, Visual loss OMIM:180000
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... OMIM:145350
Flotch Syndrome
Photophobia, Neoplasm of the skin ORPHA:2045
Retinitis Pigmentosa 37
Constriction of peripheral visual field, Red-green dyschromatopsia, Nyctalopia, Reduced visual ac... OMIM:611131
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Constriction of peripheral visual field, Ataxia, Reduced visual acuity, Dysmetria, Photophobia OMIM:618527
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Babesiosis
Photophobia, Anorexia ORPHA:108
Jalili Syndrome
Photophobia, Visual impairment, Color vision defect ORPHA:1873
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Alopecia-Intellectual Disability Syndrome
Photophobia ORPHA:2850
Miller Fisher Syndrome
Ataxia, Diplopia, Photophobia, Paresthesia, Dysphagia, Blurred vision ORPHA:98919
Meningococcal Meningitis
Photophobia, Skin rash, Paresthesia, Anorexia ORPHA:33475
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Paroxysmal Hemicrania
Photophobia, Restless legs, Phonophobia ORPHA:157835
Dyskeratosis, Hereditary Benign Intraepithelial
Photophobia, Visual impairment OMIM:127600
Cataract 2, Multiple Types
Photophobia, Visual impairment, Amblyopia OMIM:604307
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Skin rash, Slender build, Chorea, Attention deficit hyperactivity disorder, Recurr... OMIM:617600
Retinal Dystrophy With Or Without Macular Staphyloma
Central scotoma, Nyctalopia, Reduced visual acuity, Photophobia, Truncal obesity OMIM:617547
Ataxia-Telangiectasia-Like Disorder 2
Photophobia, Unsteady gait, Ataxia, Dysphagia OMIM:615919
Tyrosinemia Type 2
Photophobia, Visual loss, Ataxia ORPHA:28378
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Dysphagia, Failure to thrive, Abnormal repetitive mannerisms DECIPHER:45
Retinitis Pigmentosa 72
Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, High myopia, Photophobia OMIM:616469
Smith-Magenis Syndrome
Hyperactivity, Impaired pain sensation, Self hugging, Increased body weight, Head-banging, Hypera... OMIM:182290
Cockayne Syndrome Type 2
Ataxia, Photophobia, Gait disturbance, Difficulty walking, Visual impairment ORPHA:90322
Corneal Dystrophy, Reis-Bucklers Type
Photophobia, Reduced visual acuity OMIM:608470
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Severe Intellectual Disability And Progressive Spastic Paraplegia
Waddling gait, Amblyopia, Overweight, Difficulty walking, Abnormal repetitive mannerisms ORPHA:280763
Cancer-Associated Retinopathy
Photophobia, Prostate cancer, Neoplasm of the breast, Pancreatic adenocarcinoma, Hodgkin lymphoma... ORPHA:71505
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... OMIM:618718
Paternal Uniparental Disomy Of Chromosome 1
Pain insensitivity, Obesity, Photophobia, Progressive visual loss, Dyschromatopsia, Polyphagia ORPHA:251004
Chromosome 16Q12 Duplication Syndrome
Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Paracentral scotoma, Tritanomaly OMIM:619649
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... OMIM:616468
Spinocerebellar Ataxia 7
Macular degeneration, Optic atrophy, Pigmentary retinopathy OMIM:164500
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615282
Lyme Disease
Photophobia, Paresthesia, Amaurosis fugax ORPHA:91546
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... ORPHA:52427
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Photophobia, Myopia, Failure to thrive, Erythroderma OMIM:242150
Christianson Syndrome
Cachexia, Dysphagia, Gait ataxia, Inappropriate laughter, Truncal ataxia, Abnormal repetitive man... ORPHA:85278
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... OMIM:618195
Lopes-Maciel-Rodan Syndrome
Myopia, Unsteady gait, Bruxism, Agitation, Dysphagia, Abnormal repetitive mannerisms OMIM:617435
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Hsd10 Mitochondrial Disease
Optic atrophy, Retinal degeneration OMIM:300438
Leber Congenital Amaurosis 15
Myopia, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Hypermetropia... OMIM:613843
Ocular Albinism With Late-Onset Sensorineural Deafness
Photophobia, Visual impairment ORPHA:1000
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Pain insensitivity, Eczema, Aggressive behavior, Obesity, Self-injurious behavior,... OMIM:600430
Developmental And Epileptic Encephalopathy 6B
Ataxia, Inability to walk, Chorea, Choreoathetosis, Abnormal repetitive mannerisms OMIM:619317
Poretti-Boltshauser Syndrome
Retinal thinning, Retinal atrophy, Retinal dystrophy OMIM:615960
Sunct Syndrome
Photophobia, Restlessness, Agitation ORPHA:57145
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... ORPHA:67042
Cone-Rod Dystrophy 10
Photophobia, Nyctalopia, Progressive visual loss, Peripheral visual field loss OMIM:610283
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615986
Lymphedema-Distichiasis Syndrome
Recurrent skin infections, Patent ductus arteriosus, Photophobia, Webbed neck, Fibrosarcoma ORPHA:33001
Spastic Paraplegia 11, Autosomal Recessive
Macular degeneration, Retinal degeneration OMIM:604360
Xeroderma Pigmentosum, Complementation Group D
Photophobia, Melanoma, Ataxia, Choreoathetosis OMIM:278730
Retinitis Pigmentosa 25
Photophobia, Nyctalopia, Constriction of peripheral visual field OMIM:602772
X-Linked Recessive Ocular Albinism
Photophobia, Myopia, Visual impairment, Neoplasm of the skin ORPHA:54
Acrodermatitis Enteropathica
Anorexia, Pustule, Weight loss, Photophobia, Failure to thrive, Visual impairment ORPHA:37
Hypotrichosis With Juvenile Macular Degeneration
Macular degeneration, Abnormality of macular pigmentation, Short stature ORPHA:1573
Oculocutaneous Albinism Type 5
Photophobia, Reduced visual acuity ORPHA:370091
Gelatinous Drop-Like Corneal Dystrophy
Photophobia, Reduced visual acuity, Blurred vision ORPHA:98957
Ichthyosis, Congenital, Autosomal Recessive 11
Pruritus, Photophobia OMIM:602400
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Cockayne Syndrome Type 3
Optic disc pallor, Retinal atrophy, Mild postnatal growth retardation, Retinal dystrophy, Splenom... ORPHA:90324
Albinism, Ocular, Type I
Photophobia, Reduced visual acuity OMIM:300500
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Photophobia, Folliculitis OMIM:612843
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration OMIM:616211
Boutonneuse Fever
Skin rash, Photophobia, Maculopapular exanthema ORPHA:83313
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... OMIM:605549
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Photophobia, Folliculitis OMIM:308800
Cone-Rod Dystrophy 6
Nyctalopia, Reduced visual acuity, Peripheral visual field loss, Photophobia, Hemeralopia, Progre... OMIM:601777
Bilateral Acute Depigmentation Of The Iris
Photophobia ORPHA:69736
Arnold-Chiari Malformation Type I
Somatic sensory dysfunction, Dysesthesia, Diplopia, Gait ataxia, Photophobia, Progressive cerebel... ORPHA:268882
Infantile Krabbe Disease
Blindness, Cachexia, Visual loss, Photophobia, Hyperesthesia, Failure to thrive ORPHA:206436
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
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
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Amblyopia, Cerebral visual impairment, Abnormal temper tantrums, Abnormal ... ORPHA:530983
Kid Syndrome
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... ORPHA:477
Autoinflammation With Arthritis And Dyskeratosis
Photophobia, Failure to thrive, Laryngeal papilloma OMIM:617388
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms OMIM:616341
Cone-Rod Dystrophy And Hearing Loss 1
Photophobia, Dyschromatopsia, Visual impairment, Hemeralopia OMIM:617236
Xeroderma Pigmentosum, Variant Type
Photophobia, Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma OMIM:278750
Xeroderma Pigmentosum, Complementation Group E
Photophobia, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin OMIM:278740
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Impaired tactile sensation, Abnormal repetitive mannerisms, Ataxia, Gait ataxia OMIM:619092
Progressive Non-Fluent Aphasia
Astrocytosis ORPHA:100070
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters OMIM:605808
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Rod-cone dystr... OMIM:615994
Oculocutaneous Albinism Type 4
Photophobia, Reduced visual acuity, Neoplasm of the skin ORPHA:79435
Alg6-Cdg
Rod-cone dystrophy, Retinal degeneration ORPHA:79320
Ocular Cystinosis
Photophobia, Visual impairment ORPHA:411641
Corneal Dystrophy, Thiel-Behnke Type
Photophobia OMIM:602082
Axial Spondylometaphyseal Dysplasia
Mild postnatal growth retardation, Short stature, Retinal dystrophy, Peripheral retinal degenerat... ORPHA:168549
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Polyphagia, Self-injurious behavior, Abnormal repetitive mannerisms, Parox... ORPHA:228402
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:619690
Autoimmune Polyendocrinopathy Type 1
Photophobia, Visual impairment, Chronic mucocutaneous candidiasis ORPHA:3453
Epithelial Recurrent Erosion Dystrophy
Photophobia, Progressive visual loss, Blurred vision ORPHA:293381
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Photophobia, High myopia OMIM:614457
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Ataxia, Impulsivity, Cerebral visual impairment, Aggressive behavior, Inability to walk, Tongue t... OMIM:619580
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration, Acanthocytosis OMIM:615558
Xeroderma Pigmentosum, Complementation Group C
Photophobia, Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma, Actin... OMIM:278720
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Myopia, Hyperactivity, Ataxia, Aggressive behavior, Obesity, Compulsive behaviors, Abnormal repet... OMIM:618430
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Ataxia, Myelodysplasia, Agitation, Failure to thrive, Abnormal repetitive mannerisms ORPHA:927
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Ataxia, Aggressive behavior, Self-injurious behavior, Gait disturbance, Compulsive behaviors, Att... OMIM:300986
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Pigmentary retinopathy, Retinal degeneration ORPHA:79264
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Hypermetropia, Gait ataxia, Difficulty walking, Abnormal repetitive mannerisms,... OMIM:617807
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Photophobia, Visual loss, Failure to thrive in infancy, Visual impairment OMIM:301220
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Alacrima, Congenital, Autosomal Recessive
Photophobia OMIM:601549
Idiopathic Panuveitis
Blindness, Vitreous floaters, Reduced visual acuity, Photophobia, Abnormality of vision, Blurred ... ORPHA:280921
Cockayne Syndrome Type 1
Ataxia, Photophobia, Gait disturbance, Difficulty walking, Failure to thrive, Visual impairment ORPHA:90321
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Oculocerebral Hypopigmentation Syndrome, Preus Type
Photophobia, Ataxia ORPHA:2720
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Splenomegaly, Short stature, Retinal degeneration OMIM:615630
Late Infantile Neuronal Ceroid Lipofuscinosis
Myopia, Blindness, Hyperactivity, Ataxia, Aggressive behavior, Visual loss, Inability to walk, Re... ORPHA:168491
Trichothiodystrophy 1, Photosensitive
Small for gestational age, Squamous cell carcinoma, Photophobia, Basal cell carcinoma, Erythroderma OMIM:601675
Ceroid Lipofuscinosis, Neuronal, 10
Rod-cone dystrophy, Retinal atrophy OMIM:610127
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Retinal degeneration OMIM:616896
Shukla-Vernon Syndrome
Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Abn... OMIM:301029
Scheie Syndrome
Retinal degeneration OMIM:607016
Scrub Typhus
Photophobia, Skin rash ORPHA:83317
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Short stature, Retinal degeneration ORPHA:442835
Lattice Corneal Dystrophy Type I
Photophobia, Visual loss, High myopia, Slow decrease in visual acuity ORPHA:98964
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Pain insensitivity, Ataxia, Repetitive compulsive behavior, Chorea, Inability to walk, Bruxism, D... OMIM:300260
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Cerebral visual impairment, Attention deficit hy... OMIM:620141
Hereditary Mucoepithelial Dysplasia
Photophobia ORPHA:1839
Chediak-Higashi Syndrome
Recurrent bacterial skin infections, Ataxia, Reduced visual acuity, Photophobia, Gait disturbance OMIM:214500
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Bruxism, Decreased ... OMIM:618342
Xeroderma Pigmentosum
Ataxia, Photophobia, Melanoma, Neoplasm, Papilloma, Thin skin, Neoplasm of the eye, Failure to th... ORPHA:910
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Ataxia, Chorea, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics OMIM:619725
Congenital Tufting Enteropathy
Photophobia, Failure to thrive, Weight loss ORPHA:92050
Oculocutaneous Albinism Type 1A
Photophobia, Basal cell carcinoma, Squamous cell carcinoma of the skin, Visual impairment ORPHA:79431
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Unusual skin infection, Blindness, Restlessness, Ataxia, Pustule, Visual los... ORPHA:68
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent ductus arteriosus, Self-injurious behavior, Compulsive behaviors, Attention deficit hypera... OMIM:617044
Aceruloplasminemia
Retinal degeneration, Anemia OMIM:604290
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Pain insensitivity, Aggressive behavior, Attention deficit hyperactivity disorder, Obsessive-comp... OMIM:618825
Potocki-Lupski Syndrome
Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Hypermetropia, Failure to th... OMIM:610883
Achromatopsia 2
Nyctalopia, Reduced visual acuity, Photophobia, Hemeralopia, Achromatopsia OMIM:216900
Hermansky-Pudlak Syndrome
Myopia, Anorexia, Amblyopia, Weight loss, Photophobia, Basal cell carcinoma, Squamous cell carcin... ORPHA:79430
Primary Dystonia, Dyt13 Type
Abnormal repetitive mannerisms ORPHA:98807
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Intellectual Disability, Buenos-Aires Type
Photophobia, Spastic gait ORPHA:3079
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Photophobia, Recurrent bacterial skin infections, Blindness, Squamous cell carcinoma OMIM:148210
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:370022
Deafness, Unilateral
Unilateral deafness OMIM:125000
Reversible Cerebral Vasoconstriction Syndrome
Photophobia, Phonophobia, Blurred vision ORPHA:284388
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Developmental And Epileptic Encephalopathy 64
Inability to walk, Chorea, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms OMIM:618004
Hsd10 Disease, Infantile Type
Rod-cone dystrophy, Optic atrophy, Retinal degeneration ORPHA:391428
Granular Corneal Dystrophy Type I
Photophobia, Reduced visual acuity, Visual impairment ORPHA:98962
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Abnormal repetitive mannerisms, Disinhibition, Dysphagia OMIM:612069
Mannosidosis, Alpha B, Lysosomal
Splenomegaly, Vacuolated lymphocytes, Growth delay, Gliosis, Retinal degeneration OMIM:248500
Spastic Paraplegia 15, Autosomal Recessive
Macular degeneration, Retinal degeneration OMIM:270700
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Leukonychia Totalis
Photophobia, Adenoma sebaceum ORPHA:2387
Alstrom Syndrome
Blindness, Constriction of peripheral visual field, Visual loss, Photophobia, Truncal obesity OMIM:203800
48,Xxyy Syndrome
Ataxia, Lymphoma, Obesity, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms ORPHA:10
Cystinosis, Adult Nonnephropathic
Photophobia OMIM:219750
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Diffuse cerebral atrophy, Vestibular areflexia ORPHA:3240
Hijazi-Reis Syndrome
Gait disturbance, Abnormal repetitive mannerisms, Hypermetropia OMIM:301094
Papillorenal Syndrome
Retinal detachment, Short stature, Morning glory anomaly, Macular hyperpigmentation, Optic disc c... OMIM:120330
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Pituitary Apoplexy
Bitemporal hemianopia, Abnormal static automated perimetry test, Pituitary adenoma, Diplopia, Red... ORPHA:95613
Supranuclear Palsy, Progressive, 2
Akinesia, Diplopia, Photophobia, Falls, Gait imbalance, Dysphagia, Blurred vision OMIM:609454
Congenital Microcoria
Blindness, Axial myopia, Nyctalopia, Photophobia, Hemeralopia, Visual impairment, Blurred vision ORPHA:566
Hermansky-Pudlak Syndrome 6
Photophobia, Reduced visual acuity, Amblyopia OMIM:614075
Ifap Syndrome 2
Photophobia OMIM:619016
Cri-Du-Chat Syndrome
Myopia, Hyperactivity, Small for gestational age, Aggressive behavior, Hyperacusis, Difficulty wa... OMIM:123450
Posterior Polymorphous Corneal Dystrophy
Very low visual acuity, Amblyopia, Reduced visual acuity, Photophobia, Blurred vision ORPHA:98973
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Splenomegaly, Polycythemia, Astrocytosis ORPHA:309854
Paget Disease Of Bone 5, Juvenile-Onset
Short stature, Macular scar, Angioid streaks of the fundus, Retinopathy, Retinal degeneration OMIM:239000
Nephronophthisis 11
Growth delay, Retinal degeneration, Anemia OMIM:613550
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Astrocytosis ORPHA:258
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Ataxia, Aggressive behavior, Bulimia, Self-biting, Stereotypical body rocking, Bru... OMIM:300912
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re... OMIM:610042
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Scissor gait, Dysmetria, Attention deficit hyperactivity disorder, Truncal a... OMIM:619121
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Patchy atrophy of the retinal pigment epithelium, Rod-cone dystrophy, Short stature ORPHA:436245
Clouston Syndrome
Photophobia OMIM:129500
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Abnormal repetitive mannerisms, Cerebral visual impairment ORPHA:411986
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Pain insensitivity, Aggressive behavior, Patent ductus arteriosus, Hyperacusis, Self-injurious be... OMIM:617061
Limbal Stem Cell Deficiency
Photophobia, Reduced visual acuity ORPHA:171673
Smith-Magenis Syndrome
Myopia, Failure to thrive in infancy, Impaired pain sensation, Obesity, Hyperacusis, Self-injurio... ORPHA:819
Refsum Disease, Classic
Rod-cone dystrophy, Retinal degeneration OMIM:266500
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... ORPHA:101085
Trichothiodystrophy
Congenital exfoliative erythroderma, Myopia, Eczema, Squamous cell carcinoma, Photophobia, Gait a... ORPHA:33364
Arthrogryposis, Distal, Type 2A
Cerebellar atrophy, Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Hermansky-Pudlak Syndrome 11
Photophobia, Reduced visual acuity OMIM:619172
Galloway-Mowat Syndrome 6
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Decreased body weight OMIM:618347
Senior-Loken Syndrome 9
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy OMIM:616629
Mucolipidosis Iii Alpha/Beta
Retinopathy, Short stature, Retinal degeneration OMIM:252600
Chédiak-Higashi Syndrome
Recurrent bacterial skin infections, Somatic sensory dysfunction, Skin rash, Ataxia, Inability to... ORPHA:167
Behçet Disease
Blindness, Acne, Ataxia, Anorexia, Weight loss, Photophobia, Paresthesia, Gait disturbance ORPHA:117
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... ORPHA:99027
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Intrauterine growth retardation, Rod-cone dystrophy, Short stature, Retinal degeneration ORPHA:166035
Radio-Tartaglia Syndrome
Ataxia, Impulsivity, Aggressive behavior, Obesity, Gait imbalance, Attention deficit hyperactivit... OMIM:619312
Developmental And Epileptic Encephalopathy 66
Myopia, Broad-based gait, Abnormal repetitive mannerisms, Hypermetropia OMIM:618067
Ermine Phenotype
Photophobia ORPHA:999
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Recurrent skin infections, Hypermetropia, Photophobia, Squamous cell carcinoma of the skin, Failu... ORPHA:79396
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Overweight, Abnormal repetitive mannerisms, Self-mutilation, Gait disturbance ORPHA:457240
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Macular degeneration, Choroidal neovascularization ORPHA:404451
Developmental And Speech Delay Due To Sox5 Deficiency
Myopia, Aggressive behavior, Self-injurious behavior, Attention deficit hyperactivity disorder, A... ORPHA:313892
Macular Corneal Dystrophy
Photophobia, Severely reduced visual acuity ORPHA:98969
Intellectual Developmental Disorder, Autosomal Dominant 34
Broad-based gait, Abnormal repetitive mannerisms, Bruxism, Cerebral visual impairment OMIM:616351
Fuchs Heterochromic Iridocyclitis
Vitreous floaters, Reduced visual acuity, Photophobia, Abnormal best corrected visual acuity test... ORPHA:263479
Supranuclear Palsy, Progressive, 1
Akinesia, Diplopia, Photophobia, Falls, Gait imbalance, Dysphagia, Blurred vision OMIM:601104
Snijders Blok-Campeau Syndrome
Broad-based gait, Cerebral visual impairment, Unsteady gait, Hypermetropia, Attention deficit hyp... OMIM:618205
Rett Syndrome
Inability to walk, Gait disturbance, Agitation, Difficulty walking, Failure to thrive, Abnormal r... ORPHA:778
Ritscher-Schinzel Syndrome 4
Ataxia, Impulsivity, Aggressive behavior, Chorea, Athetosis, Dysphagia, Abnormal repetitive manne... OMIM:619435
Albinism, Oculocutaneous, Type Ia
Photophobia, Myopia, Reduced visual acuity, Visual impairment OMIM:203100
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615637
Maternal Uniparental Disomy Of Chromosome 2
Postnatal growth retardation, Intrauterine growth retardation, Retinal degeneration ORPHA:96179
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... OMIM:620292
Oculocutaneous Albinism Type 2
Reduced visual acuity, Photophobia, Basal cell carcinoma, Squamous cell carcinoma of the skin, Cu... ORPHA:79432
Lymphedema-Distichiasis Syndrome
Photophobia, Patent ductus arteriosus, Webbed neck OMIM:153400
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Impaired pain sensation, Hypermetropia, Gait ataxia, Abnormal repetitive mannerisms, Overfriendli... OMIM:616579
Autism, Susceptibility To, 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608049
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Gliosis, Astrocytosis OMIM:203700
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Myopia, Impulsivity, Aggressive behavior, Self-injurious behavior, Webbed neck, Abnormal repetiti... OMIM:618914
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Photophobia OMIM:219900
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Small for gestational age, Overweight, Pica, Hypermetropia, Obsessive-compulsive t... OMIM:617796
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Self-injurious behavior, Thin skin, Abnormal temper tantrums,... ORPHA:449291
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Inability to walk, Abnormal repetitive mannerisms OMIM:613443
Hermansky-Pudlak Syndrome 1
Photophobia, Severely reduced visual acuity, Blindness OMIM:203300
Toxic Epidermal Necrolysis
Visual loss, Weight loss, Photophobia, Dysphagia, Polydipsia ORPHA:537
Lujo Hemorrhagic Fever
Skin rash, Photophobia, Maculopapular exanthema, Dysphagia ORPHA:319213
Rift Valley Fever
Skin rash, Scotoma, Anorexia, Reduced visual acuity, Photophobia ORPHA:319251
Bilateral Generalized Polymicrogyria
Abnormal repetitive mannerisms, Self-injurious behavior, Oral-pharyngeal dysphagia, Cerebral visu... ORPHA:208447
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
White-Sutton Syndrome
Waddling gait, Myopia, Hyperactivity, Mild myopia, Aggressive behavior, Patent ductus arteriosus,... OMIM:616364
Chikungunya
Skin rash, Maculopapular exanthema, Pruritus, Erythema nodosum, Crusting erythematous dermatitis,... ORPHA:324625
Phelan-Mcdermid Syndrome
Broad-based gait, Impaired pain sensation, Cerebral visual impairment, Aggressive behavior, Paten... OMIM:606232
Multiple Sulfatase Deficiency
Splenomegaly, Short stature, Retinal degeneration OMIM:272200
Aceruloplasminemia
Refractory anemia, Abnormality of retinal pigmentation, Hypochromic microcytic anemia, Macular de... ORPHA:48818
Werner Syndrome
Short stature, Elevated hemoglobin A1c, Retinal degeneration OMIM:277700
Mucoepithelial Dysplasia, Hereditary
Photophobia, Blindness, Chronic mucocutaneous candidiasis OMIM:158310
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Amblyopia, Aggressive behavior, Gait ataxia, Compulsive behaviors, Attention deficit hyperactivit... ORPHA:476126
Intellectual Developmental Disorder, Autosomal Dominant 48
Hyperactivity, Patent ductus arteriosus, Abnormal repetitive mannerisms, Eczema OMIM:617751
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Patent ductus arteriosus, Abnormal repetitive mannerisms, Eczema, Moderately reduced visual acuity ORPHA:500159
Tick-Borne Encephalitis
Somatic sensory dysfunction, Anorexia, Photophobia, Dysphagia, Visual impairment ORPHA:297
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy OMIM:616722
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Hypoautofluorescent retinal lesion, Rod-cone dystrophy, Short stature, Retinal degeneration OMIM:250410
Den Hoed-De Boer-Voisin Syndrome
Ataxia, Overweight, Inability to walk, Obesity, Hypermetropia, Dysphagia, Abnormality of vision, ... OMIM:619229
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Severe short stature, Rhizomelia, R... ORPHA:85167
Stevens-Johnson Syndrome
Photophobia, Dysphagia, Visual impairment, Weight loss ORPHA:36426
Encephalitis Lethargica
Photophobia, Diplopia ORPHA:83600
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Macular coloboma, Megaloblastic anemia, Optic atrophy, Growth delay, Pigmentary retinopathy, Abno... ORPHA:79282
Dentici-Novelli Neurodevelopmental Syndrome
Inability to walk, Abnormal repetitive mannerisms OMIM:619877
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Pantothenate Kinase-Associated Neurodegeneration
Bull's eye maculopathy, Acanthocytosis, Optic atrophy, Pigmentary retinopathy, Retinal flecks, Ro... ORPHA:157850
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Failure to thrive, ... OMIM:620242
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma OMIM:212550
Infantile Nephropathic Cystinosis
Photophobia, Polydipsia, Failure to thrive ORPHA:411629
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Abnormal repetitive mannerisms, Ataxia OMIM:619428
Joubert Syndrome 6
Retinal degeneration, Chorioretinal coloboma OMIM:610688
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Aggressive behavior, Hypermetropia, Gait disturbance, Attention deficit hyperac... OMIM:300352
Cockayne Syndrome
Somatic sensory dysfunction, Ataxia, Cachexia, Inability to walk, Hypermetropia, Photophobia, Pro... ORPHA:191
Reactive Arthritis
Pustule, Photophobia, Weight loss ORPHA:29207
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Inability to walk, Myopia, Abnormal repetitive mannerisms, Dysphagia OMIM:617802
Coffin-Siris Syndrome 6
Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder OMIM:617808
Hermansky-Pudlak Syndrome 2
Photophobia, Reduced visual acuity, Chronic oral candidiasis OMIM:608233
Corneodermatoosseous Syndrome
Photophobia, Nyctalopia, Hemeralopia ORPHA:3194
Mucopolysaccharidosis, Type Vii
Photophobia, Visual impairment OMIM:253220
Coffin-Siris Syndrome 7
Hyperactivity, Severe temper tantrums, Hypermetropia, Compulsive behaviors, Abnormal repetitive m... OMIM:618027
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium ORPHA:1433
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Retinal degeneration OMIM:615249
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Self-biting ORPHA:3306
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Delayed menarche, Retinal atrophy ORPHA:412057
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... ORPHA:171929
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Macular degeneration ORPHA:284289
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Rod-cone dystrophy, Macular atrophy OMIM:615434
Chromosome 5P13 Duplication Syndrome
Abnormal repetitive mannerisms, Self-injurious behavior, Small for gestational age, Compulsive be... OMIM:613174
Tooth Agenesis, Selective, 4
Photophobia, Thin skin OMIM:150400
Proximal 16P11.2 Microdeletion Syndrome
Obesity, Choreoathetosis, Attention deficit hyperactivity disorder, Failure to thrive, Abnormal r... ORPHA:261197
Pseudoxanthoma Elasticum
Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of the fundus, Optic disc druse... OMIM:264800
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration ORPHA:542306
Coccidioidomycosis
Skin rash, Pruritus, Erythema nodosum, Photophobia, Folliculitis, Morbilliform rash, Blurred vision ORPHA:228123
Alazami Syndrome
Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh... ORPHA:319671
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ... OMIM:616393
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Gait ataxia OMIM:300486
Houge-Janssens Syndrome 3
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:618354
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Photophobia OMIM:609944
3P25.3 Microdeletion Syndrome
Abnormal repetitive mannerisms, Patent ductus arteriosus, Ataxia, Attention deficit hyperactivity... ORPHA:435638
Cystinosis, Nephropathic
Blindness, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Reduced visual acuity, Weight... OMIM:219800
Rett Syndrome, Congenital Variant
Chorea, Tongue thrusting, Athetosis, Bruxism, Abnormal repetitive mannerisms OMIM:613454
Kniest Dysplasia
Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, Disproportio... ORPHA:485
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms ORPHA:85277
Hurler Syndrome
Splenomegaly, Short stature, Retinal degeneration, Hepatosplenomegaly OMIM:607014
Transketolase Deficiency
Seborrheic dermatitis, Patent ductus arteriosus, Self-injurious behavior, Compulsive behaviors, A... ORPHA:488618
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Hyperorality, Agitation, Disinhibition, Polyphagia OMIM:607485
Blepharophimosis-Impaired Intellectual Development Syndrome
Patent ductus arteriosus, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorde... OMIM:619293
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Ataxia, Repetitive compulsive behavior, Chorea, Hypermetropia, Self-biting, Choreoathetosis, Abno... ORPHA:522077
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Retinal dystrophy, Hyperautofluorescent macular lesion, ... OMIM:209900
Congenital Disorder Of Glycosylation, Type Iia
Aggressive behavior, Unsteady gait, Midfrontal capillary hemangioma, Failure to thrive, Abnormal ... OMIM:212066
Juvenile Nephropathic Cystinosis
Photophobia, Polydipsia, Failure to thrive ORPHA:411634
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Dec... ORPHA:909
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Head-banging, Hypermetropia, High myopia, Attention deficit hyperactivity disorder, Frequent temp... OMIM:619103
2Q37 Microdeletion Syndrome
Eczema, Obesity, Compulsive behaviors, Attention deficit hyperactivity disorder, Nephroblastoma, ... ORPHA:1001
4Q21 Microdeletion Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:238750
Corneal Dystrophy, Posterior Polymorphous, 1
Photophobia OMIM:122000
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:391307
Macrophthalmia, Colobomatous, With Microcornea
Optic disc coloboma, Macular atrophy, Chorioretinal coloboma OMIM:602499
Pyruvate Dehydrogenase E2 Deficiency
Retinal degeneration ORPHA:79244
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Macular degeneration OMIM:619780
Cogan Syndrome
Photophobia, Blindness, Reduced visual acuity ORPHA:1467
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormal repetitive mannerisms, Dysphagia, Cerebral visual impairment ORPHA:572013
Megalocornea-Intellectual Disability Syndrome
Myopia, Abnormal repetitive mannerisms, Ataxia ORPHA:2479
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Overweight, Hypermetropia, Head-banging, Self-injurious behavior, Frequent temper tantrums, Atten... OMIM:619575
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Aggressive behavior, Unsteady gait, Abnormal temper tantrums, Abnormal repetitive mannerisms ORPHA:457279
5Q14.3 Microdeletion Syndrome
Abnormal repetitive mannerisms ORPHA:228384
Alacrima, Congenital, Autosomal Dominant
Photophobia OMIM:103420
Chromosome 15Q11.2 Deletion Syndrome
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Ataxia, Compulsive beha... OMIM:615656
Gapo Syndrome
Photophobia OMIM:230740
Amoebic Keratitis
Photophobia ORPHA:67043
Cockayne Syndrome A
Cerebellar atrophy, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased ner... OMIM:216400
White-Sutton Syndrome
Myopia, Blindness, Hyperactivity, Aggressive behavior, Obesity, Hypermetropia, Self-injurious beh... ORPHA:468678
Odontoonychodermal Dysplasia
Photophobia OMIM:257980
Intellectual Developmental Disorder, Autosomal Recessive 71
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Visual loss, Inability to walk, Abnormal best corrected visual acuity test, Abnor... ORPHA:300570
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Failure to thrive, Abnormal repetitive mannerisms, Inappropriate laughter, Cerebral visual impair... OMIM:615802
Cockayne Syndrome B
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:133540
Sarcoidosis, Susceptibility To, 1
Photophobia, Weight loss, Anorexia, Blurred vision OMIM:181000
Dyrk1A-Related Intellectual Disability Syndrome
Myopia, Hyperactivity, Small for gestational age, Eczema, Amblyopia, Patent ductus arteriosus, Hy... ORPHA:464306
Mucopolysaccharidosis Type 2
Papilledema, Abnormality of retinal pigmentation, Short stature, Abnormal foveal morphology, Sple... ORPHA:580
Pseudoxanthoma Elasticum, Forme Fruste
Macular degeneration, Retinal hemorrhage, Angioid streaks of the fundus OMIM:177850
Eec Syndrome
Photophobia, Lymphoma ORPHA:1896
Tubulointerstitial Nephritis And Uveitis Syndrome
Skin rash, Anorexia, Renal tubular epithelial necrosis, Weight loss, Photophobia, Visual impairment ORPHA:91500
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Hypermetropia OMIM:620073
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Cerebral visual impairment, Inability to walk, Self-injurious behavior, Abnormal repetitive manne... ORPHA:457351
Farber Disease
Short stature, Hepatosplenomegaly, Anemia, Macular degeneration, Cherry red spot of the macula, T... ORPHA:333
Bainbridge-Ropers Syndrome
Failure to thrive, Inability to walk, Hypermetropia, Self-injurious behavior, Recurrent hand flap... OMIM:615485
Isolated Congenital Alacrima
Photophobia ORPHA:91416
Rauch-Steindl Syndrome
Hyperactivity, Failure to thrive, Abnormal repetitive mannerisms, Aggressive behavior OMIM:619695
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Myopia, Small for gestational age, Amblyopia, Patent ductus arteriosus, Hypermetropia, Abnormalit... ORPHA:464311
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:397612
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Photophobia, Hypermetropia OMIM:210730
Knobloch Syndrome
Retinal detachment, Patent ductus arteriosus, Abnormal vitreous humor morphology, Macular degener... ORPHA:1571
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Inflammatory abnormality of the skin, Blindness, Skin rash, Anorexia, Oral-pharyngeal dysphagia, ... ORPHA:95455
Senior-Loken Syndrome 8
Rod-cone dystrophy, Retinal dystrophy, Macular atrophy OMIM:616307
Mucopolysaccharidosis Type 3
Splenomegaly, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Retinal degeneration ORPHA:581
Childhood Disintegrative Disorder
Abnormal repetitive mannerisms ORPHA:168782
7Q11.23 Microduplication Syndrome
Collectionism, Hyperactivity, Aggressive behavior, Patent ductus arteriosus, Unsteady gait, Polyp... ORPHA:96121
22Q11.2 Duplication Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:1727
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears ORPHA:401973
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Restrictive behavior, Hyperactivity, ... OMIM:619475
Prader-Willi Syndrome Due To Translocation
Myopia, Cerebral visual impairment, Patent ductus arteriosus, Obesity, Hypermetropia, Head-bangin... ORPHA:177907
Kleefstra Syndrome 1
Abnormal repetitive mannerisms, Obesity, Compulsive behaviors, Aggressive behavior OMIM:610253
Tuberous Sclerosis Complex
Angiofibromas, Pancreatic endocrine tumor, Subependymal giant-cell astrocytoma, Pheochromocytoma,... ORPHA:805
Blau Syndrome
Clear cell renal cell carcinoma, Skin rash, Erythema nodosum, Visual loss, Photophobia ORPHA:90340
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Retinal atrophy, Short stature, Abnormal retinal morphology, Optic atrophy, Anemia,... ORPHA:2785
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Optic atrophy, Retinal dysplasia OMIM:236670
Crimean-Congo Hemorrhagic Fever
Anorexia, Erythema nodosum, Photophobia, Agitation, Morbilliform rash ORPHA:99827
Pitt-Hopkins Syndrome
Myopia, Self-injurious behavior, Abnormal repetitive mannerisms, Gait ataxia OMIM:610954
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Myopia, Broad-based gait, Amblyopia, Repetitive compulsive behavior, Hypermetropia, Gait ataxia, ... ORPHA:513456
Nmda Receptor Encephalitis
Ovarian teratoma, Neoplasm of the thymus, Hypersexuality, Chorea, Hodgkin lymphoma, Neoplasm of t... ORPHA:217253
Developmental And Epileptic Encephalopathy 2
Inability to walk, Abnormal repetitive mannerisms, Cerebral visual impairment OMIM:300672
Cofs Syndrome
Sensorineural hearing impairment, Optic atrophy, Cerebral cortical atrophy ORPHA:1466
Autosomal Recessive Spastic Paraplegia Type 11
Retinal degeneration ORPHA:2822
Sympathetic Ophthalmia
Photophobia, Reduced visual acuity, Vitreous floaters ORPHA:79098
Niemann-Pick Disease, Type C2
Abnormal repetitive mannerisms, Ataxia, Dysphagia OMIM:607625
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Impaired pain sensation, Attention deficit hyperactivity disorder, Decreased body weight, Abnorma... OMIM:619005
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Abnormal repetitive mannerisms, Ataxia, Dysphagia ORPHA:496641
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Short stature, Retinal degeneration OMIM:208500
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Photophobia ORPHA:1010
Developmental And Epileptic Encephalopathy 100
Chorea, Gait ataxia, Choreoathetosis, Dysphagia, Hemangioma, Abnormal repetitive mannerisms OMIM:619777
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Photophobia, Thin skin OMIM:129900
Say-Barber-Miller Syndrome
Short stature, Optic atrophy, Abnormal T cell morphology, Macular degeneration, Impaired neutroph... ORPHA:3132
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Photophobia, Myopia, Failure to thrive, Eczema ORPHA:2273
Xq21 Microdeletion Syndrome
Abnormal chorioretinal morphology, Chorioretinal degeneration, Postnatal growth retardation, Reti... ORPHA:1435
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:529965
Hypotonia, Ataxia, And Delayed Development Syndrome
Pain insensitivity, Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Dysphagia, Truncal ataxia, ... OMIM:617330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Optic atrophy, Hypoplasia of the retina, Retinal dysplasia, Retinal degeneration OMIM:253280
Kleefstra Syndrome
Aggressive behavior, Obesity, Self-injurious behavior, Abnormal repetitive mannerisms, Self-mutil... ORPHA:261494
Chronic Graft Versus Host Disease
Photophobia, Dysphagia, Anorexia, Weight loss ORPHA:99921
Phacoanaphylactic Uveitis
Photophobia, Visual loss, Blurred vision ORPHA:209959
Wiedemann-Steiner Syndrome
Hyperactivity, Aggressive behavior, Dysphagia, Webbed neck, Failure to thrive, Abnormal repetitiv... ORPHA:319182
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Obesity, Hypermetropia, Bruxism, Dysphagia, Trunca... OMIM:615873
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Pain insensitivity, Broad-based gait, Eczema, Aggressive behavior, Hair-pulling, Pol... OMIM:620330
Pilarowski-Bjornsson Syndrome
Abnormal repetitive mannerisms OMIM:617682
Bohring-Opitz Syndrome
Optic atrophy, Intrauterine growth retardation, Retinal atrophy, Short stature ORPHA:97297
Neurodegeneration With Brain Iron Accumulation 1
Pigmentary retinopathy, Optic atrophy, Retinal degeneration, Acanthocytosis OMIM:234200
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal repetitive mannerisms ORPHA:261144
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder ORPHA:98784
Hydroxykynureninuria
Abnormal repetitive mannerisms ORPHA:79155
Cerebrooculofacioskeletal Syndrome 1
Gliosis OMIM:214150
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Hypermetropia, Self-injurious behavior, Compulsive behaviors, Frequent temper tant... OMIM:619512
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Myopia, Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, G... OMIM:614756
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Photophobia OMIM:604292
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Rhizomelia, Short stature, Retinal dystrophy, Hepatosplenomegaly, Macular degeneration, Rod-cone ... OMIM:266920
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Pilomatrixoma, Patent ductus arteriosus, Abnorma... ORPHA:353281
Kinsship Syndrome
Failure to thrive, Abnormal repetitive mannerisms, Bruxism, Cerebral visual impairment OMIM:619297
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Photophobia, Recurrent skin infections, Eczema, Erythroderma OMIM:308205
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Difficulty walking, Abnormal repetitive mannerisms, Obesity, Hypermetropia OMIM:618653
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Macular degeneration ORPHA:247234
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Myopia, Aggressive behavior, Amblyopia, Obesity, Abnormal repetitive mannerisms OMIM:301066
1P36 Deletion Syndrome
Patent ductus arteriosus, Polyphagia, Obesity, Abnormality of vision, Self-injurious behavior, Ga... ORPHA:1606
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Retinal degeneration OMIM:618479
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Inability to walk, Abnormal repetitive mannerisms, Capillary hemangioma ORPHA:508533
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Short stature, Retinal degeneration, Delayed puberty ORPHA:79474
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Severe failure to thrive, Self-injurious behavior, Abnormal repetitive mannerisms, Eczema ORPHA:468631
Arboleda-Tham Syndrome
Myopia, Cerebral visual impairment, Amblyopia, Patent ductus arteriosus, Dysphagia, Gait imbalanc... OMIM:616268
Alport Syndrome
Macular degeneration, Retinal flecks ORPHA:63
Oculocerebrorenal Syndrome Of Lowe
Benign neoplasm of the central nervous system, Amblyopia, Odontogenic neoplasm, Self-injurious be... ORPHA:534
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Pilomatrixoma, Patent ductus arteriosus, Abnorma... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Pilomatrixoma, Patent ductus arteriosus, Abnorma... ORPHA:353277
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Myopia, Hyperactivity, Small for gestational age, Hypermetropia, Abnormal repetitive mannerisms OMIM:309590
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Abnormal repetitive mannerisms OMIM:301040
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Myopia, Abnormal repetitive mannerisms, Hypermetropia, Amblyopia ORPHA:508498
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Loss of ambulation, Patent ductus arteriosus, Unsteady gait, Abnormal repetitive mannerisms OMIM:616682
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Hyperactivity, Abnormal repetitive mannerisms, Dysphagia ORPHA:447997
Van Esch-O'Driscoll Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity OMIM:301030
Ogden Syndrome
Patent ductus arteriosus, Abnormal repetitive mannerisms, Eczema, Dysphagia OMIM:300855
Alström Syndrome
Blindness, Somatic sensory dysfunction, Ataxia, Visual loss, Obesity, Visual field defect, Photop... ORPHA:64
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Patent ductus arteriosus, Hypermetropia, Self-injurious behavior, Truncal obesity, Failure to thr... OMIM:612474
Norrie Disease
Blindness, Cachexia, Self-injurious behavior, Attention deficit hyperactivity disorder, Neoplasm ... ORPHA:649
Wolf-Hirschhorn Syndrome
Small for gestational age, Webbed neck, Hemangioma, Failure to thrive, Abnormal repetitive manner... OMIM:194190
Lowe Oculocerebrorenal Syndrome
Aggressive behavior, Reduced visual acuity, Failure to thrive, Abnormal repetitive mannerisms, Vi... OMIM:309000
Primrose Syndrome
Restlessness, Ataxia, Aggressive behavior, Truncal obesity, Self-injurious behavior, Tics, Attent... OMIM:259050
Coffin-Siris Syndrome 12
Myopia, Failure to thrive, Abnormal repetitive mannerisms, Hypermetropia OMIM:619325
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Patent ductus arteriosus, Hypermetropia, Attention deficit hyperactivity disorder, Dysphagia, Hig... OMIM:619522
Mowat-Wilson Syndrome
Myopia, Broad-based gait, Ataxia, Impaired pain sensation, Inability to walk, Patent ductus arter... ORPHA:2152
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Abnormal repetitive mannerisms OMIM:301044
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Myopia, Broad-based gait, Impaired pain sensation, Inability to walk, Patent ductus arteriosus, D... ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Myopia, Broad-based gait, Impaired pain sensation, Inability to walk, Dysphagia, Bruxism, Failure... ORPHA:261537
De Sanctis-Cacchione Syndrome
Sensorineural hearing impairment, Axonal degeneration, Optic atrophy, Cerebral atrophy, Global br... OMIM:278800
Uv-Sensitive Syndrome 1
Neoplasm OMIM:600630
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Premature Ovarian Failure 11
OMIM:616946

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ercc6

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ercc6.

No publications found that use IMPC mice or data for Ercc6.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Ercc6tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ercc6tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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