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Genes Phenotypes Help, News, Blog

Gene: Fscn2 MGI:2443337

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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:
fascin actin-bundling protein 2
Synonyms:
ahl8,  C630046B20Rik

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 Fscn2 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 associated to Fscn2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Nyctalopia, Optic atrophy, Chorioretinal atrophy, Rod-co... OMIM:607921
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Blindness, Abnormal retinal vascular morphology, Sensorineur... ORPHA:791

The table below shows human diseases predicted to be associated to Fscn2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Drusen, Reticular pigmentary degeneration, Retinal dystrophy OMIM:267800
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... OMIM:616515
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Cone-Rod Dystrophy 7
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy OMIM:603649
Macular Dystrophy, Patterned, 3
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy OMIM:617111
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Retinitis Pigmentosa Inversa With Deafness
Sensorineural hearing impairment, Rod-cone dystrophy, Blindness, Retinitis pigmentosa inversa OMIM:268010
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy OMIM:136550
Hyperleucine-Isoleucinemia
Sensorineural hearing impairment, Retinal degeneration OMIM:238340
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Sensorineural hearing impairment, Reduced visual acuity, Pho... OMIM:617879
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Stargardt Disease 3
Macular dystrophy, Macular atrophy, Macular flecks OMIM:600110
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Macular Dystrophy, Retinal, 2
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... OMIM:608051
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Leber Congenital Amaurosis 19
Optic disc pallor, Visual impairment, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field... OMIM:618144
Ceroid Lipofuscinosis, Neuronal, 6A
Increased neuronal autofluorescent lipopigment, Abnormal nervous system electrophysiology, Progre... OMIM:601780
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Macular Dystrophy, Vitelliform, 2
Macular dystrophy, Cystoid macular degeneration, Subretinal fluid OMIM:153700
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Sorsby Pseudoinflammatory Fundus Dystrophy
Blindness, Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Lar... ORPHA:59181
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Co... OMIM:616544
Auditory Neuropathy And Optic Atrophy
Rod-cone dystrophy, Optic atrophy, Visual impairment, Hearing impairment OMIM:617717
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:609923
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Large central visual... ORPHA:85128
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy, Central scotoma, Reduced visual acuity, Color... OMIM:608850
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Best Vitelliform Macular Dystrophy
Metamorphopsia, Visual field defect, Cystoid macular degeneration, Choroideremia, Visual impairme... ORPHA:1243
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Pericentral scotoma, Peripheral retinal degeneration,... OMIM:609021
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Ceroid Lipofuscinosis, Neuronal, 2
Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent lipopigme... OMIM:204500
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Retinitis Pigmentosa 70
Optic disc pallor, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Ma... OMIM:615922
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ph... OMIM:609913
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Wagner Vitreoretinopathy
Myopia, Retinal pigment epithelial atrophy, Visual loss, Optically empty vitreous, Optic atrophy,... OMIM:143200
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Blindness, Constriction of peripheral... OMIM:600138
Cone-Rod Dystrophy 11
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy OMIM:610381
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:610359
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Myopia, Pericentral scotoma, Macular atrophy, Scotoma, N... OMIM:620342
Bietti Crystalline Dystrophy
Blindness, Retinal pigment epithelial atrophy, Retinal thinning, Large central visual field defec... ORPHA:41751
Ceroid Lipofuscinosis, Neuronal, 3
Blindness, Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescen... OMIM:204200
Bardet-Biedl Syndrome 16
Reduced visual acuity, Recurrent otitis media, Rod-cone dystrophy, Retinal degeneration, Hearing ... OMIM:615993
Achromatopsia
Hypoplasia of the fovea, Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial m... ORPHA:49382
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Central scotoma, Reduced visual acu... OMIM:600977
Optic Atrophy 8
Abnormal auditory evoked potentials, Central scotoma, Sensorineural hearing impairment, Visual lo... OMIM:616648
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:617871
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Retinitis Pigmentosa 38
Optic disc pallor, Constriction of peripheral visual field, Peripheral retinal atrophy, Macular a... OMIM:613862
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... OMIM:601718
Ceroid Lipofuscinosis, Neuronal, 1
Blindness, Increased neuronal autofluorescent lipopigment, Optic atrophy, Cerebral atrophy, Macul... OMIM:256730
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Diabetes And Deafness, Maternally Inherited
Abnormal vestibular function, Constriction of peripheral visual field, Vertigo, Sensorineural hea... OMIM:520000
Macular Dystrophy, Vitelliform, 3
Metamorphopsia, Choroidal neovascularization, Macular atrophy, Drusen, Reduced visual acuity, Pho... OMIM:608161
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Reduced visual acuity, Photophobia, Macular degeneration, Visual impairm... OMIM:608194
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Red-green dyschromatopsia, Central scotoma, Optic atrophy, R... OMIM:125250
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Cone-Rod Dystrophy, X-Linked, 1
Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Nyctalopia, Redu... OMIM:304020
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Optic atrophy, Retinal degeneration OMIM:614322
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Blindness, Nyctalopia, Reduced visual a... OMIM:613731
Retinal Dystrophy And Obesity
Retinal detachment, Myopia, Retinal pigment epithelial atrophy, Retinal dystrophy, Reduced visual... OMIM:616188
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Nyctalopia, Opt... OMIM:600059
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:611040
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... OMIM:618195
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Constriction of peripheral visual field, Macular atrophy, Nyctalopia, Hypermetropia, Cystoid macu... OMIM:267760
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Blindness, Macular ... OMIM:613750
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ma... OMIM:618826
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Constriction of peri... OMIM:619007
Cone-Rod Dystrophy 15
Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Nyctalopia, Photopho... OMIM:613660
Ophthalmoplegia, External, And Myopia
Retinal degeneration, Chorioretinal degeneration OMIM:311000
Optic Atrophy 5
Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy OMIM:610708
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Attached earlobe, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Re... OMIM:616108
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Central Retinal Vein Occlusion
Papilledema, Large central visual field defect, Epiretinal membrane, Visual loss, Intraretinal he... ORPHA:411527
Achromatopsia 7
Hypoplasia of the fovea, Macular atrophy, Central scotoma, Absent foveal reflex, Reduced visual a... OMIM:616517
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:617460
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy OMIM:602093
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Abnormal nervous system elect... OMIM:256731
Birdshot Chorioretinopathy
Arcuate scotoma, Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroi... ORPHA:179
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Congenital sensorineural h... ORPHA:52427
Cone-Rod Dystrophy And Hearing Loss 1
Retinal atrophy, Sensorineural hearing impairment, Photophobia, Macular degeneration, Hemeralopia... OMIM:617236
Hsd10 Mitochondrial Disease
Visual loss, Sensorineural hearing impairment, Optic atrophy, Cerebral cortical atrophy, Retinal ... OMIM:300438
Morm Syndrome
Retinal atrophy, Retinal dystrophy, Photophobia, Progressive night blindness, Visual impairment ORPHA:75858
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Blindness, Macular atrophy, Nyctalopia, Reduced visua... OMIM:604393
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Macular degeneration, Choroidal neovascularization, Drusen OMIM:608895
Oguchi Disease
Myopia, Mizuo phenomenon, Diplopia, Visual field defect, Macular degeneration, Congenital station... ORPHA:75382
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Chromosome Xq21 Deletion Syndrome
Constriction of peripheral visual field, Chorioretinal degeneration, Progressive sensorineural he... OMIM:303110
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Macular coloboma, Abnormal auditory evoked potentials, Mac... OMIM:619260
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Blindness, Macular atrophy, Nyctalopia, Progressive visu... OMIM:617781
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema OMIM:180104
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... OMIM:618220
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... OMIM:614292
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Retinal dystrophy, Peripheral retinal atrophy, Nyctalopia, Absent foveal reflex, Reduced visual a... OMIM:615147
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Caudate atrophy, Cerebral visu... ORPHA:52368
Nephronophthisis 15
Retinal degeneration OMIM:614845
Nephronophthisis 14
Retinal degeneration OMIM:614844
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Mucolipidosis Iv
Cerebellar atrophy, Optic atrophy, Photophobia, Retinal degeneration, Visual impairment OMIM:252650
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration OMIM:602271
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:180105
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration OMIM:264420
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Retinal degeneration OMIM:275400
Bardet-Biedl Syndrome 4
Rod-cone dystrophy, Retinal degeneration OMIM:615982
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy OMIM:616502
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Sensorineural hearing impairment, Retinal degeneration OMIM:616896
Bardet-Biedl Syndrome 21
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Myopia, Retinal atrophy, Retinal thinning, Blin... OMIM:617406
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Chorioretinal Atrophy, Progressive Bifocal
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy OMIM:600790
Severe Early-Childhood-Onset Retinal Dystrophy
Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Photophobia, Retinal ... ORPHA:364055
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... OMIM:612095
Stickler Syndrome, Type I, Nonsyndromic Ocular
Optically empty vitreous, Myopia, Rhegmatogenous retinal detachment, Hearing impairment OMIM:609508
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... OMIM:613617
Acute Zonal Occult Outer Retinopathy
Blind-spot enlargment, Vitritis, Myopia, Retinal pigment epithelial mottling, Hemianopia, Rod-con... ORPHA:284454
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Pigmentary retinopathy, Myopia, Retinal degeneration ORPHA:3363
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Constriction of peripheral visual field, Sensorineural heari... ORPHA:1215
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... OMIM:613983
Ceroid Lipofuscinosis, Neuronal, 10
Cerebellar atrophy, Retinal atrophy, Increased neuronal autofluorescent lipopigment, Visual loss,... OMIM:610127
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... OMIM:617304
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Myopia, Central scotoma, Absent f... OMIM:300476
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Visual loss, Sensorineural hearing impairment, Optic atrophy, Retinal de... OMIM:249270
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, High myopia, Photopho... OMIM:613464
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... ORPHA:67042
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Spinocerebellar Ataxia 7
Macular degeneration, Optic atrophy, Pigmentary retinopathy, Progressive visual loss OMIM:164500
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Reduced visual acuity, Macular edema, Photo... ORPHA:209943
Leber Congenital Amaurosis 15
Optic disc pallor, Myopia, Constriction of peripheral visual field, Nyctalopia, Reduced visual ac... OMIM:613843
Bardet-Biedl Syndrome 2
Rod-cone dystrophy, Retinal degeneration OMIM:615981
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar atrophy, Optic disc pallor, Macular atrophy, Periventricular heterotopia, Optic atroph... OMIM:616171
Retinal Cone Dystrophy 3B
Cone/cone-rod dystrophy, Myopia, Scotoma, Macular atrophy, Nyctalopia, Reduced visual acuity, Pho... OMIM:610356
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Nyctalopia, Optic atrophy, Chorioretinal atrophy, Rod-co... OMIM:607921
Canavan Disease
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy ORPHA:141
Stickler Syndrome Type 2
Retinal detachment, Myopia, Sensorineural hearing impairment, Abnormal vitreous humor morphology,... ORPHA:90654
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Poretti-Boltshauser Syndrome
Myopia, Retinal atrophy, Retinal thinning, Retinal dystrophy, Amblyopia, Gray matter heterotopia OMIM:615960
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Congenital Glaucoma
Retinal detachment ORPHA:98976
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:613581
Retinitis Pigmentosa 23
Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Mild myopia, Absent ... OMIM:300424
Developmental And Epileptic Encephalopathy 28
Cerebral atrophy, Optic atrophy, Simplified gyral pattern, Retinal degeneration OMIM:616211
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Optic disc pallor, Large central visual field defect, Blindness, Interictal E... ORPHA:79264
Hsd10 Disease, Infantile Type
Blindness, Diffuse cerebral atrophy, Visual loss, Optic atrophy, Cerebral atrophy, Frontotemporal... ORPHA:391428
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Type II lissencephaly, Sensorineural hearing impairment, Reduced visual acuity, Lissencephaly, Vi... OMIM:615249
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Reduced visual acuity, Ph... OMIM:270200
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... OMIM:145350
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Spastic Paraplegia 11, Autosomal Recessive
Degeneration of the lateral corticospinal tracts, Macular degeneration, Retinal degeneration, Cer... OMIM:604360
Refsum Disease, Classic
Sensorineural hearing impairment, Rod-cone dystrophy, Retinal degeneration, Nyctalopia OMIM:266500
Bietti Crystalline Corneoretinal Dystrophy
Constriction of peripheral visual field, Chorioretinal atrophy, Reduced visual acuity, High myopi... OMIM:210370
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Cerebral visual impairment, Sensorineural hear... OMIM:617519
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Hypop... OMIM:600501
Cone-Rod Dystrophy 10
Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Photophobia, M... OMIM:610283
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Blindness, Nyctalopia, Peripheral v... OMIM:605549
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Attached earlobe, Constriction of peripheral visual field, Patchy atrophy of the retinal pigment ... ORPHA:436245
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Amblyopia OMIM:617523
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Myopia, Blindness, Corpus callosum atrophy, Visual loss, Reduced visual acuit... ORPHA:168491
Alg6-Cdg
Low-set ears, Rod-cone dystrophy, Retinal degeneration ORPHA:79320
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Cerebral atrophy, Hypsarrhythmia, Abnormality of vision, EEG with multifocal slow ... ORPHA:442835
Retinitis Pigmentosa 37
Constriction of peripheral visual field, Red-green dyschromatopsia, Nyctalopia, Reduced visual ac... OMIM:611131
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters OMIM:605808
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Myopia, Retinal atrophy, Retinal dystrophy, Amblyopia, Hypermetropia ORPHA:370022
Cataract 50 With Or Without Glaucoma
Retinal detachment OMIM:620253
Sjögren-Larsson Syndrome
Myopia, Abnormality of retinal pigmentation, Photophobia, Macular degeneration, Retinopathy ORPHA:816
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Myopia, Patchy atrophy of the retinal pigment ... OMIM:616468
Scheie Syndrome
Retinal degeneration OMIM:607016
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Nyctalopia, Ch... OMIM:601777
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615986
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, Depigmented fundus, Abnormal morphology of the choroidal vasculature, Op... ORPHA:352731
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Visual impairment, Glue ear, Patchy atrophy of the retinal p... ORPHA:1433
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Myopia, Retinal atrophy, Retinal pigment epithelial atrophy, Ring scotoma, Epi... OMIM:616959
Spastic Paraplegia 15, Autosomal Recessive
Macular degeneration, Visual impairment, Reduced visual acuity, Retinal degeneration OMIM:270700
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy, Visual impairment OMIM:616881
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Charcot-Marie-Tooth Disease, Type 4D
Myopia, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural h... OMIM:601455
Hypotrichosis With Juvenile Macular Degeneration
Macular degeneration, Blindness, Abnormality of macular pigmentation ORPHA:1573
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:96
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Visual impairm... OMIM:615994
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy OMIM:616722
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Macular degeneration, Choroidal neovascularization ORPHA:404451
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Rod-cone dystrophy, Nyctalopia, Visual field defect, Low-set ears, Macrotia, Cerebral cortical at... ORPHA:166035
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Sensorineural hearing impairment, Angioid streaks of the fundus, Retinopathy, Retin... OMIM:239000
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Cancer-Associated Retinopathy
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Constriction of periphera... ORPHA:71505
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Aceruloplasminemia
Retinal degeneration OMIM:604290
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Rod-cone dystrophy, Nyctalopia, Peripheral visual field loss, Hypoautofluorescent retinal lesion,... OMIM:250410
Axial Spondylometaphyseal Dysplasia
Retinal dystrophy, Peripheral retinal degeneration, Amblyopia, Optic atrophy, Reduced visual acui... ORPHA:168549
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced visual acuity, Optic disc pallor, Rod-cone dystrophy, Macular atrophy OMIM:615434
Multiple Sulfatase Deficiency
Cerebellar atrophy, Cerebral atrophy, Retinal degeneration, Hearing impairment OMIM:272200
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials, Optic atrophy ORPHA:2971
Macrophthalmia, Colobomatous, With Microcornea
Myopia, Macular atrophy, Optic disc coloboma, Reduced visual acuity, Chorioretinal coloboma OMIM:602499
Pantothenate Kinase-Associated Neurodegeneration
Blindness, Pallidal degeneration, Bull's eye maculopathy, Nyctalopia, Optic atrophy, Peripheral v... ORPHA:157850
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Bardet-Biedl Syndrome 1
Myopia, Bone spicule pigmentation of the retina, Retinal dystrophy, Aganglionic megacolon, Hearin... OMIM:209900
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Abnormality of visual evoked potentials, Optic disc pallor, Decreased motor nerve conduction velo... OMIM:601152
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Blindness, Abnormal retinal vascular morphology, Sensorineur... ORPHA:791
Senior-Loken Syndrome 9
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy OMIM:616629
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Macular degeneration, Diplopia ORPHA:284289
Neurodegeneration With Brain Iron Accumulation 2A
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Optic atrophy OMIM:256600
Pyruvate Dehydrogenase E2 Deficiency
Neurodegeneration, Peripheral visual field loss, Retinal degeneration ORPHA:79244
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Cerebellar atrophy, Retinal atrophy, Corpus callosum atrophy, Abnormal motor evoked potentials, P... ORPHA:412057
Xq21 Microdeletion Syndrome
Stapes ankylosis, Abnormal chorioretinal morphology, Chorioretinal degeneration, Dilatated intern... ORPHA:1435
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nyctalopia, Retinal degeneration OMIM:615630
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Ocular albinism, Abnormal optic nerve morphology, Abnormality of visual ... ORPHA:79431
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Visual loss, Macular degeneration, Abnormal autonomic nervous system physiology, Cerebellar corti... ORPHA:247234
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Blindness, Diffuse cerebral atrophy, Decreased ne... ORPHA:206436
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Joubert Syndrome 6
Blindness, Retinal degeneration, Chorioretinal coloboma OMIM:610688
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration, Hypsarrhythmia ORPHA:542306
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma OMIM:212550
Krabbe Disease
Abnormal flash visual evoked potentials, Decreased nerve conduction velocity, Optic atrophy OMIM:245200
Papillorenal Syndrome
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Sensorineural hearing impai... OMIM:120330
Pseudoxanthoma Elasticum
Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of the fundus, Optic disc druse... OMIM:264800
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Corpus callosum atrophy, Sensorineural hearing impairment, Macrotia, Cerebral... OMIM:248500
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Blindness, Decreased nerve conduction velocity, V... ORPHA:206443
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of visual evoked potentials, Optic disc pallor, Decreased nerve conduction velocity, ... ORPHA:485421
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Optic disc pallor, Abnormality of pattern visual evoked potentials ORPHA:1947
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy OMIM:125310
Mepan Syndrome
Abnormality of visual evoked potentials, Optic atrophy ORPHA:508093
Spinocerebellar Ataxia Type 7
Cone/cone-rod dystrophy, Cerebellar atrophy, Blindness, Visual loss, Reduced visual acuity, Abnor... ORPHA:94147
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Myopia, Retinal atrophy, Blindness, Optic nerve hypoplasia, Agyria, Optic atr... OMIM:236670
Congenital Primary Aphakia
Retinal dysplasia ORPHA:83461
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Posteriorly rotated ears, Protruding ear, Low-set ears, Retinal degeneration, Visual impairment OMIM:618479
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Macular degeneration OMIM:619780
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Undetectable visual evoked potentials, Chorioretinal coloboma ORPHA:163961
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Atrophy of the spinal cord, Frontal cortical atrophy, Visual impairment,... ORPHA:2822
Mucolipidosis Iii Alpha/Beta
Retinopathy, Retinal degeneration OMIM:252600
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Retinal dystrophy, Macular coloboma, Undetectable visual evoked potentials, Ap... ORPHA:423479
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Optic atrophy, Photophobia, Pigmentary retinopathy, Visual i... ORPHA:90321
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials, Optic atrophy ORPHA:702
Mucopolysaccharidosis Type 3
Myopia, Mixed hearing impairment, Constriction of peripheral visual field, Blindness, Thickened h... ORPHA:581
Peho Syndrome
Undetectable visual evoked potentials, Optic atrophy OMIM:260565
Friedreich Ataxia
Abnormality of visual evoked potentials, Decreased sensory nerve conduction velocity, Optic atrop... OMIM:229300
Kniest Dysplasia
Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, High myopia,... ORPHA:485
Pseudoxanthoma Elasticum, Forme Fruste
Myopia, Reduced visual acuity, Retinal hemorrhage, Angioid streaks of the fundus, Macular degener... OMIM:177850
Achalasia-Addisonianism-Alacrima Syndrome
Abnormality of visual evoked potentials, Orthostatic hypotension, Optic atrophy, Abnormal autonom... OMIM:231550
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
Xq12-Q13.3 Duplication Syndrome
Abnormality of visual evoked potentials, Optic disc pallor ORPHA:314389
Mucopolysaccharidosis Type 2
Papilledema, Abnormality of retinal pigmentation, Otosclerosis, Large central visual field defect... ORPHA:580
Nephronophthisis 11
Retinal degeneration OMIM:613550
Norrie Disease
Retinal detachment, Blindness, Sensorineural hearing impairment, Optic atrophy, Retinal dysplasia... OMIM:310600
Micro Syndrome
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy, Reti... ORPHA:2510
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... ORPHA:101085
Hurler Syndrome
Recurrent otitis media, Neurodegeneration, Retinal degeneration, Hearing impairment OMIM:607014
Microphthalmia, Isolated 8
Retinal detachment, Retinal coloboma, Optic nerve hypoplasia, Hypoplastic optic chiasm OMIM:615113
Cockayne Syndrome Type 3
Optic disc pallor, Retinal atrophy, Retinal dystrophy, Macrotia, Retinal hemorrhage, Hypermetropi... ORPHA:90324
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Abnormality of visual evoked potentials, Optic atrophy OMIM:616875
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Macular coloboma, Atrophy of the spinal cord, Optic atrophy, Cerebral atrophy, Pigmentary retinop... ORPHA:79282
Senior-Loken Syndrome 8
Retinal dystrophy, Macular atrophy, Reduced visual acuity, Rod-cone dystrophy, Visual impairment OMIM:616307
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Myopia, Retinal atrophy, Type II lissencephaly, Optic atrophy, EEG abnormality, Hypoplasia of the... OMIM:253280
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormality of visual evoked potentials, Optic atrophy ORPHA:480898
Infantile Neuroaxonal Dystrophy
Abnormality of visual evoked potentials, Optic atrophy, Abnormal autonomic nervous system physiol... ORPHA:35069
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Decreased nerve conduction velocity ORPHA:1933
Trichothiodystrophy
Myopia, Protruding ear, Photophobia, Macular degeneration, Bilateral sensorineural hearing impair... ORPHA:33364
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Aceruloplasminemia
Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration ORPHA:48818
Metachromatic Leukodystrophy, Late Infantile Form
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Optic atrophy ORPHA:309256
Coats Disease
Exudative retinal detachment, Retinal telangiectasia OMIM:300216
Mpdu1-Cdg
Undetectable visual evoked potentials, Optic atrophy ORPHA:79323
Werner Syndrome
Retinal degeneration OMIM:277700
Cockayne Syndrome A
Cerebellar atrophy, Retinal atrophy, Abnormal pinna morphology, Abnormal auditory evoked potentia... OMIM:216400
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Dec... ORPHA:909
Metachromatic Leukodystrophy, Juvenile Form
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Optic atrophy ORPHA:309263
Knobloch Syndrome
Retinal detachment, Myopia, Visual loss, Abnormal vitreous humor morphology, Macular degeneration... ORPHA:1571
Cockayne Syndrome
High-frequency sensorineural hearing impairment, Abnormality of retinal pigmentation, Optic disc ... ORPHA:191
Maternal Uniparental Disomy Of Chromosome 2
Retinal degeneration ORPHA:96179
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Myopia, Aganglionic megacolon, Short-segment aganglionic meg... OMIM:609136
Adult Krabbe Disease
Visual loss, Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... ORPHA:99027
Neurodegeneration With Brain Iron Accumulation 1
Optic atrophy, Pigmentary retinopathy, Neurodegeneration, Cerebral degeneration, Retinal degenera... OMIM:234200
Cockayne Syndrome B
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:133540
Alport Syndrome
Macular degeneration, Sensorineural hearing impairment, Retinal flecks ORPHA:63
Metachromatic Leukodystrophy, Adult Form
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Optic atrophy, Orth... ORPHA:309271
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Abnormality of visual evoked potentials OMIM:614457
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... ORPHA:171929
Bohring-Opitz Syndrome
Low-set, posteriorly rotated ears, Retinal atrophy, Optic atrophy, High myopia ORPHA:97297
Osteopetrosis With Renal Tubular Acidosis
Retinal atrophy, Abnormal retinal morphology, Cranial nerve compression, Optic atrophy, Conductiv... ORPHA:2785
Say-Barber-Miller Syndrome
Low-set, posteriorly rotated ears, Macrotia, Optic atrophy, Protruding ear, Macular degeneration,... ORPHA:3132
Cln5 Disease
Abnormality of visual evoked potentials ORPHA:228360
White-Sutton Syndrome
Abnormality of visual evoked potentials, Rod-cone dystrophy, Optic nerve hypoplasia OMIM:616364
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Retinal degeneration OMIM:208500
Farber Disease
Macular degeneration, Cherry red spot of the macula, Brain atrophy ORPHA:333
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Constriction of peripheral visual field, Macular atrophy, Nyctalopia, Bilateral sensorineural hea... OMIM:619418
Ruvalcaba Syndrome
Abnormality of visual evoked potentials ORPHA:3121
Hermansky-Pudlak Syndrome
Abnormality of visual evoked potentials, Abnormal optic nerve morphology, Ocular albinism ORPHA:79430
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Retinal dystrophy, Posteriorly rotated ears, Visual loss, Peripheral visual field loss, Macular d... OMIM:266920
Gaucher Disease, Type I
Macular atrophy OMIM:230800
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears ORPHA:401973
Autosomal Recessive Malignant Osteopetrosis
Abnormality of visual evoked potentials, Optic nerve compression ORPHA:667
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Retinal degeneration ORPHA:79474
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of visual evoked potentials, Facial palsy ORPHA:258
Metachromatic Leukodystrophy
Abnormality of visual evoked potentials, Decreased nerve conduction velocity ORPHA:512
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Abnormality of visual evoked potentials OMIM:203700
Alström Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Abnormal vestibular function, Retinal pigment epithel... ORPHA:64

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 Fscn2

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 Fscn2.

No publications found that use IMPC mice or data for Fscn2.

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MGI Allele Allele Type Produced
Fscn2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Fscn2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Fscn2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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