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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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 auditory evoked potentials, Sensorineural hearing impairment, Abnormal speech discrimina... OMIM:609129
Deafness, Autosomal Recessive 9
Absence of acoustic reflex, Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Retinoschisis, Autosomal Dominant
Retinoschisis, Abnormality of macular pigmentation, Peripheral retinal degeneration OMIM:180270
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Stargardt Disease 1
Bull's eye maculopathy, Retinitis pigmentosa inversa, Macular degeneration OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
Exudative Vitreoretinopathy 7
Vitreoretinopathy, Retinal degeneration, Retinal hole OMIM:617572
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Doyne Honeycomb Retinal Dystrophy
Retinal dystrophy, Reticular pigmentary degeneration OMIM:126600
Cone-Rod Dystrophy 7
Bull's eye maculopathy, Cone/cone-rod dystrophy, 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 Inversa With Deafness
Retinitis pigmentosa inversa, Sensorineural hearing impairment, Blindness, Rod-cone dystrophy OMIM:268010
Retinitis Pigmentosa 36
Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ret... OMIM:610599
Hyperleucine-Isoleucinemia
Sensorineural hearing impairment, Retinal degeneration OMIM:238340
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Stargardt Disease 3
Macular flecks, Macular dystrophy, Macular atrophy OMIM:600110
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Optic disc pallor, Macular degeneration, Abnormal flash visual evoked pote... OMIM:618195
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Retinal pigment epithelial atrophy, Macular dystrophy, ... OMIM:608051
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels, Visual impairment OMIM:618513
Liberfarb Syndrome
Retinal degeneration, Sensorineural hearing impairment, Retinal pigment epithelial mottling, Opti... OMIM:618889
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Retinal degeneration, Retinal detachment, Retinal atrophy, Vi... OMIM:312700
Ceroid Lipofuscinosis, Neuronal, 6A
Increased neuronal autofluorescent lipopigment, Progressive visual loss, Retinal degeneration, Ab... OMIM:601780
Usher Syndrome, Type Iv
Retinal degeneration, Ring scotoma, Sensorineural hearing impairment, Progressive sensorineural h... OMIM:618144
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid OMIM:153700
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Sorsby Pseudoinflammatory Fundus Dystrophy
Large central visual field defect, Retinal pigment epithelial atrophy, Visual loss, Blindness, Su... ORPHA:59181
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:609923
Bothnia Retinal Dystrophy
Large central visual field defect, Retinal pigment epithelial atrophy, Central scotoma, Retinal d... ORPHA:85128
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Central scotoma, Color vision defect, Macular drusen, Reduced... OMIM:608850
Peripheral Cone Dystrophy
Pericentral scotoma, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy,... OMIM:609021
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormality of visual evoked potentials, Ap... ORPHA:827
Late-Onset Retinal Degeneration
Retinopathy, Visual loss, Retinal degeneration, Blindness, Rod-cone dystrophy, Sub-RPE deposits, ... OMIM:605670
Best Vitelliform Macular Dystrophy
Color vision defect, Choroideremia, Visual field defect, Cystoid macular degeneration, Metamorpho... ORPHA:1243
Cone-Rod Dystrophy 22
Bull's eye maculopathy, Absent foveal reflex, Retinal pigment epithelial atrophy, Hypoautofluores... OMIM:619531
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Retinal Cone Dystrophy 1
Bull's eye maculopathy, Cone/cone-rod dystrophy, Retinal degeneration OMIM:180020
Ceroid Lipofuscinosis, Neuronal, 2
Cerebral atrophy, Retinal degeneration, Progressive visual loss, Increased neuronal autofluoresce... OMIM:204500
Retinitis Pigmentosa 32
Retinal degeneration, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pa... OMIM:609913
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Retinal atrophy, Pigmentary retinopathy, Retinal dystrophy, Bone spicule pigmentatio... OMIM:180210
Central Areolar Choroidal Dystrophy
Visual loss, Visual impairment, Slow decrease in visual acuity, Dyschromatopsia, Hypopigmentation... ORPHA:75377
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy OMIM:600059
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Vitreoretinopathy, Visual loss, ... OMIM:143200
Retinitis Pigmentosa 70
Rod-cone dystrophy, Optic disc pallor, Retinal degeneration OMIM:615922
Cone-Rod Dystrophy 11
Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular degeneration, Macular atrophy OMIM:610381
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:610359
Retinitis Pigmentosa 11
Nyctalopia, Blindness, Rod-cone dystrophy, Macular edema, Optic disc pallor, Macular degeneration... OMIM:600138
Retinitis Pigmentosa 38
Peripheral retinal atrophy, Progressive visual loss, Rod-cone dystrophy, Optic disc pallor, Macul... OMIM:613862
Macular Dystrophy, Retinal, 1, North Carolina Type
Peripheral retinal atrophy, Abnormality of macular pigmentation, Macular dystrophy, Drusen OMIM:136550
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Cranial nerve compression, Macular atrophy, Optic atrophy OMIM:250450
Bietti Crystalline Dystrophy
Large central visual field defect, Retinal pigment epithelial atrophy, Central scotoma, Color vis... ORPHA:41751
Bardet-Biedl Syndrome 16
Rod-cone dystrophy, Recurrent otitis media, Retinal degeneration, Hearing impairment OMIM:615993
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Achromatopsia
Absent foveal reflex, Retinal pigment epithelial atrophy, Abnormal macular morphology, Inner reti... ORPHA:49382
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Ceroid Lipofuscinosis, Neuronal, 1
Cerebral atrophy, EEG abnormality, Retinal degeneration, Blindness, Progressive visual loss, Incr... OMIM:256730
Macular Degeneration, Age-Related, 1
Geographic atrophy, Foveal hypopigmentation, Choroidal neovascularization, Macular degeneration, ... OMIM:603075
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Optic Atrophy 8
Visual loss, Central scotoma, Sensorineural hearing impairment, Abnormal auditory evoked potentia... OMIM:616648
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity OMIM:601382
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Retinal degeneration, Optic atrophy OMIM:614322
Cone-Rod Dystrophy 13
Color vision defect, Visual impairment, Macular degeneration, Photophobia, Cone/cone-rod dystroph... OMIM:608194
Retinitis Pigmentosa 19
Retinal pigment epithelial atrophy, Visual impairment, Rod-cone dystrophy, Optic disc pallor, Bon... OMIM:601718
Diabetes And Deafness, Maternally Inherited
Vestibular dysfunction, Constriction of peripheral visual field, Retinal degeneration, Sensorineu... OMIM:520000
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial atrophy, Color vision defect, Visual impairment, Myopia, Hypoautofluor... OMIM:304020
Macular Dystrophy, Vitelliform, 3
Macular dystrophy, Vitelliform-like macular lesions, Choroidal neovascularization, Drusen, Macula... OMIM:608161
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Central scotoma, Visual impairment, Abnormal auditory evoked potentials, Progressive sensorineura... OMIM:125250
Microphthalmia, Isolated 5
Optic disc drusen, Retinal pigment epithelial atrophy, Visual impairment, Hypermetropia, Cystoid ... OMIM:611040
Bothnia Retinal Dystrophy
Retinal dystrophy, Macular degeneration OMIM:607475
Usher Syndrome, Type Iid
Blindness, Rod-cone dystrophy, Hearing impairment OMIM:611383
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Visual impairment, Myopia, Peripapillary atrophy, Retinal det... OMIM:616188
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Progressive visual loss, Rod-cone dystrophy, Optic disc pallor, Phot... OMIM:614500
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Retinal dysplasia, Abnormal retinal vascular morphology ORPHA:1852
Familial Drusen
Macular hyperpigmentation, Subretinal fluid, Abnormality of retinal pigmentation, Reticular pigme... ORPHA:75376
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Leber Congenital Amaurosis 15
Retinopathy, Retinal degeneration, Color vision defect, Hypermetropia, Myopia, Pigmentary retinop... OMIM:613843
Retinitis Pigmentosa 80
Macular atrophy OMIM:617781
Developmental And Epileptic Encephalopathy 28
Cerebral atrophy, Retinal degeneration, Optic atrophy OMIM:616211
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Retinal degeneration, Progressive visual loss, Increased neuronal autofluores... OMIM:256731
Retinitis Pigmentosa 88
Cystoid macular edema, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ... OMIM:618826
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Retinal degeneration, Hypermetropia, Macular atrophy, Nyctalopia, Cystoid macular degeneration, C... OMIM:267760
Cone-Rod Dystrophy 15
Retinal pigment epithelial atrophy, Color vision defect, Progressive visual loss, Rod-cone dystro... OMIM:613660
Retinitis Pigmentosa 90
Retinal pigment epithelial atrophy, Cystoid macular edema, Hyperautofluorescent retinal lesion, B... OMIM:619007
Central Retinal Vein Occlusion
Large central visual field defect, Visual loss, Cystoid macular edema, Retinal neovascularization... ORPHA:411527
Morm Syndrome
Retinal atrophy, Retinal dystrophy, Progressive night blindness, Visual impairment ORPHA:75858
Achromatopsia 7
Absent foveal reflex, Central scotoma, Hypoplasia of the fovea, Achromatopsia, Photophobia, Macul... OMIM:616517
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Hsd10 Mitochondrial Disease
Visual loss, Retinal degeneration, Sensorineural hearing impairment, Cerebral cortical atrophy, O... OMIM:300438
Birdshot Chorioretinopathy
Vitritis, Macular scar, Macular hole, Visual loss, Blind-spot enlargment, Retinal thinning, Cysto... ORPHA:179
Cone Dystrophy 3
Progressive visual loss, Photophobia, Macular atrophy, Cone/cone-rod dystrophy, Reduced visual ac... OMIM:602093
Cone-Rod Dystrophy And Hearing Loss 1
Visual impairment, Dyschromatopsia, Sensorineural hearing impairment, Retinal atrophy, Macular de... OMIM:617236
Retinitis Pigmentosa 37
Rod-cone dystrophy, Pigmentary retinopathy, Tritanomaly, Photophobia, Nyctalopia, Cystoid macular... OMIM:611131
Retinitis Punctata Albescens
Absent foveal reflex, Central scotoma, Progressive night blindness, Progressive visual field defe... ORPHA:52427
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Large earlobe, Sensorineural hearing impairment, Macular degeneration OMIM:612948
Ceroid Lipofuscinosis, Neuronal, 3
Cerebral atrophy, Blindness, Progressive visual loss, Rod-cone dystrophy, Increased neuronal auto... OMIM:204200
Retinitis Pigmentosa 84
Rod-cone dystrophy, Macular coloboma, Macular atrophy OMIM:618220
Retinitis Pigmentosa 73
Retinal atrophy, Rod-cone dystrophy OMIM:616544
Bietti Crystalline Corneoretinal Dystrophy
Constriction of peripheral visual field, High myopia, Retinal degeneration, Progressive night bli... OMIM:210370
Leber Congenital Amaurosis 4
Blindness, Optic disc pallor, Macular atrophy, Cone/cone-rod dystrophy, Nyctalopia, Attenuation o... OMIM:604393
Retinitis Pigmentosa 27
Blindness, Rod-cone dystrophy, Macular edema, Chorioretinal atrophy, Macular atrophy, Peripapilla... OMIM:613750
Macular Degeneration, Age-Related, 3
Drusen, Choroidal neovascularization, Macular degeneration, Decreased nerve conduction velocity OMIM:608895
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Cerebellar atrophy, Cerebral atrophy, Simplified gyral pattern, Optic disc pallor, M... OMIM:616171
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Cone dystrophy, Retinal detachment, Cone/cone-rod dystrophy OMIM:304030
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia OMIM:615771
Chromosome Xq21 Deletion Syndrome
Incomplete partition of the cochlea, Constriction of peripheral visual field, Conductive hearing ... OMIM:303110
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Retinal degeneration OMIM:225755
Spondylometaphyseal Dysplasia, Axial
Rod-cone dystrophy, Retinal degeneration, Optic atrophy OMIM:602271
Progressive Bifocal Chorioretinal Atrophy
Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy ORPHA:75373
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Peripheral retinal atrophy, Retinal dystrophy OMIM:615147
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebral atrophy, Cerebellar atrophy, High myopia, Retinal degeneration, High hypermetropia, Sens... OMIM:619260
Retinitis Pigmentosa 9
Rod-cone dystrophy, Macular edema, Bone spicule pigmentation of the retina, Macular atrophy OMIM:180104
Retinitis Pigmentosa 79
Optic disc pallor, Photophobia, Macular atrophy, Nyctalopia, Constriction of peripheral visual fi... OMIM:617460
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Vestibular dysfunction, Visual loss, Central scot... ORPHA:52368
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Mucolipidosis Iv
Cerebellar atrophy, Retinal degeneration, Photophobia, Optic atrophy, Visual impairment OMIM:252650
Oguchi Disease
Myopia, Congenital stationary night blindness, Rod-cone dystrophy, Diplopia, Macular degeneration... ORPHA:75382
Nephronophthisis 14
Retinal degeneration OMIM:614844
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Retinal degeneration OMIM:275400
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Sensorineural hearing impairment, Retinal degeneration OMIM:616896
Ceroid Lipofuscinosis, Neuronal, 10
Cerebral atrophy, Visual loss, Cerebellar atrophy, Low-set ears, Retinal atrophy, Rod-cone dystro... OMIM:610127
Cone-Rod Dystrophy 2
Retinal pigment epithelial atrophy, Central scotoma, Color vision defect, Constriction of periphe... OMIM:120970
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy OMIM:600790
Bardet-Biedl Syndrome 21
Retinal thinning, Hypoplasia of the fovea, Myopia, Blindness, Retinal atrophy, Rod-cone dystrophy... OMIM:617406
Stickler Syndrome, Type I, Nonsyndromic Ocular
Rhegmatogenous retinal detachment, Optically empty vitreous, Hearing impairment, Myopia OMIM:609508
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage OMIM:264420
Bardet-Biedl Syndrome 4
Rod-cone dystrophy, Retinal degeneration OMIM:615982
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy OMIM:616502
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Cystoid macular edema, Progressive visual loss, Hyperautofluo... OMIM:618613
Acute Zonal Occult Outer Retinopathy
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Retinal pigment epithelial mottling, ... ORPHA:284454
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Abnormal audito... ORPHA:320401
Retinitis Pigmentosa 41
Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor, Severely reduced visual acuity, Ma... OMIM:612095
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Sensorineural hearing impairment, Progressive visual loss, Abnormal r... ORPHA:1215
Nephronophthisis 15
Retinal degeneration OMIM:614845
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Central scotoma, Color vision defect, Visual impairment, Myopia, Retinal de... OMIM:300476
Retinitis Pigmentosa 51
High myopia, Visual impairment, Rod-cone dystrophy, Macular degeneration, Photophobia, Bone spicu... OMIM:613464
Retinitis Pigmentosa 77
Retinal atrophy, Rod-cone dystrophy, Cystoid macular edema OMIM:617304
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial atrophy, Color vision defect, Retinal detachment, Retinal pigment epit... ORPHA:364055
Thiamine-Responsive Megaloblastic Anemia Syndrome
Visual loss, Retinal degeneration, Sensorineural hearing impairment, Cone/cone-rod dystrophy, Opt... OMIM:249270
Irvan Syndrome
Retinal exudate, Retinal detachment, Macular edema, Blurred vision, Photophobia, Tractional retin... ORPHA:209943
Late-Onset Retinal Degeneration
Abnormal best corrected visual acuity test, Visual loss, Fundus atrophy, Nyctalopia, Peripapillar... ORPHA:67042
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal detachment, Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Exudative Vitreoretinopathy 6
Chorioretinal atrophy, Exudative vitreoretinopathy, Retinal detachment, Posterior vitreous detach... OMIM:616468
Retinitis Pigmentosa 10
Geographic atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retin... OMIM:180105
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Retinal detachment, Retinal dystrophy, Macular atrophy OMIM:212550
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinopathy, Myopia, Sensorineural hearing impairment, Retina... ORPHA:90654
Spinocerebellar Ataxia 7
Pigmentary retinopathy, Macular degeneration, Progressive visual loss, Optic atrophy OMIM:164500
Retinitis Pigmentosa 30
Attenuation of retinal blood vessels, Rod-cone dystrophy, Chorioretinal atrophy, Bone spicule pig... OMIM:607921
Canavan Disease
Abnormality of retinal pigmentation, Optic atrophy, Abnormality of visual evoked potentials ORPHA:141
Bardet-Biedl Syndrome 2
Rod-cone dystrophy, Retinal degeneration OMIM:615981
Retinitis Pigmentosa 50
Retinal flecks, Retinal detachment, Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal... OMIM:613194
Congenital Glaucoma
Retinal detachment ORPHA:98976
Poretti-Boltshauser Syndrome
Myopia, Amblyopia, Retinal thinning, Gray matter heterotopia, Retinal atrophy, Retinal dystrophy OMIM:615960
Sjogren-Larsson Syndrome
Retinal pigment epithelial atrophy, Macular degeneration, Retinal thinning OMIM:270200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Opticocochleodentate Degeneration
Visual loss, Cochlear degeneration, Optic atrophy, Hearing impairment OMIM:258700
Retinitis Pigmentosa 56
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor... OMIM:613581
Retinitis Pigmentosa 45
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Macular degeneration OMIM:613767
Retinal Cone Dystrophy 3B
Myopia, Photophobia, Macular atrophy, Cone/cone-rod dystrophy, Nyctalopia, Scotoma OMIM:610356
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity OMIM:601455
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Retinal degeneration, Optic atrophy OMIM:214980
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots OMIM:193230
Refsum Disease, Classic
Sensorineural hearing impairment, Nyctalopia, Retinal degeneration, Rod-cone dystrophy OMIM:266500
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
EEG abnormality, Sensorineural hearing impairment, Facial palsy, Cerebral visual impairment, Abse... OMIM:617519
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Agyria, Retinal degeneration, Type II lissencephaly, Sensorineural hearing impairment, Lissenceph... OMIM:615249
Retinal Detachment
Retinal detachment OMIM:180050
Hsd10 Disease, Infantile Type
Cerebral atrophy, Visual loss, Retinal degeneration, Blindness, Rod-cone dystrophy, Diffuse cereb... ORPHA:391428
Juvenile Neuronal Ceroid Lipofuscinosis
Large central visual field defect, Cerebral atrophy, Visual loss, Cerebellar atrophy, Retinal deg... ORPHA:79264
Spastic Paraplegia 11, Autosomal Recessive
Retinal degeneration, Degeneration of the lateral corticospinal tracts, Cerebral cortical atrophy... OMIM:604360
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Attenuation of retinal blood vessels, Retinal thinning, Peripheral retinal atrophy, Retinal pigme... OMIM:145350
Stickler Syndrome, Type V
Sensorineural hearing impairment, Vitreoretinopathy, Retinal detachment, High myopia OMIM:614284
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Progressive night blindness, Low-set ears, Progressive visual loss, Rod-cone dystrophy, Attached ... ORPHA:436245
Cone-Rod Dystrophy 8
Abnormality of the optic nerve, Blindness, Abnormality of retinal pigmentation, Retinal arteriola... OMIM:605549
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Subretinal exudate, Intraretinal exudate, Retinal hole, Retinal deta... OMIM:305390
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with generalized slow activity, Cerebral atrophy, Visual loss, Cerebellar atrophy, Retinal de... ORPHA:168491
Macrophthalmia, Colobomatous, With Microcornea
Reduced visual acuity, Macular atrophy, Myopia OMIM:602499
Alg6-Cdg
Rod-cone dystrophy, Retinal degeneration, Low-set ears ORPHA:79320
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Prolonged brainstem... OMIM:601596
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Sjögren-Larsson Syndrome
Retinopathy, Myopia, Abnormality of retinal pigmentation, Macular degeneration, Photophobia ORPHA:816
Coats Disease
Abnormal macular morphology, Retinal detachment, Abnormal retinal vascular morphology ORPHA:190
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Hypermetropia, Amblyopia, Myopia, Retinal atrophy, Retinal dystrophy ORPHA:370022
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Reduced visual acuity OMIM:615434
Cone-Rod Dystrophy 10
Progressive visual loss, Rod-cone dystrophy, Macular degeneration, Photophobia, Cone/cone-rod dys... OMIM:610283
Norrie Disease
Blindness, Sensorineural hearing impairment, Retinal detachment, Retinal dysplasia, Retinal fold,... OMIM:310600
Retinitis Pigmentosa And Erythrocytic Microcytosis
Retinal pigment epithelial atrophy, Ring scotoma, Myopia, Retinal atrophy, Optic disc pallor, Epi... OMIM:616959
Non-Specific Early-Onset Epileptic Encephalopathy
Cerebral atrophy, Retinal degeneration, Abnormality of vision, EEG with multifocal slow activity,... ORPHA:442835
Bardet-Biedl Syndrome 9
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal degeneration, Attenuation of... OMIM:615986
Birdshot Chorioretinopathy
Vitritis, Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology OMIM:605808
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, Optic nerve misrouting, Abnormality of visual evoked potentials, Depigme... ORPHA:352731
Scheie Syndrome
Retinal degeneration OMIM:607016
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Optic disc pallor OMIM:617523
Spastic Paraplegia 15, Autosomal Recessive
Visual impairment, Retinal degeneration, Macular degeneration, Reduced visual acuity OMIM:270700
Cataract 21, Multiple Types
Retinal detachment, Macular hypoplasia OMIM:610202
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia OMIM:614830
Bardet-Biedl Syndrome 17
Retinal degeneration, Rod-cone dystrophy, Macular atrophy, Cone/cone-rod dystrophy, Bone spicule ... OMIM:615994
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Retinal degeneration OMIM:613819
Hypotrichosis With Juvenile Macular Degeneration
Blindness, Abnormality of macular pigmentation, Macular degeneration ORPHA:1573
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Vitreoretinopathy, Retinal detachment, Posterior retinal neov... OMIM:193235
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Abnormality of visual evoked potentials ORPHA:96
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration OMIM:614292
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Retinopathy, Retinal degeneration, Sensorineural hearing impairment, Angioid streak... OMIM:239000
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Nonarteritic anterior ischemic optic neuropathy, Abnormality of visual evoked potentials OMIM:125310
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Choroidal neovascularization, Macular degeneration ORPHA:404451
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Retinal degeneration, Low-set ears, Rod-cone dystrophy, Cerebral cortical atrophy, Macrotia, Visu... ORPHA:166035
Axial Spondylometaphyseal Dysplasia
Peripheral retinal degeneration, Dyschromatopsia, Amblyopia, Rod-cone dystrophy, Photophobia, Ret... ORPHA:168549
Cancer-Associated Retinopathy
Vitritis, Retinal pigment epithelial atrophy, Visual loss, Central scotoma, Constriction of perip... ORPHA:71505
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Retinal atrophy OMIM:616722
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Senior-Loken Syndrome 9
Rod-cone dystrophy, Retinal dystrophy, Macular degeneration OMIM:616629
Papillorenal Syndrome
Morning glory anomaly, Sensorineural hearing impairment, Retinal detachment, Chorioretinal atroph... OMIM:120330
Coloboma Of Optic Nerve
Optic disc coloboma, Retinal detachment OMIM:120430
Aceruloplasminemia
Retinal degeneration OMIM:604290
Multiple Sulfatase Deficiency
Cerebral atrophy, Cerebellar atrophy, Retinal degeneration, Hearing impairment OMIM:272200
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Retinal degeneration, Low-set ears, Hypoautofluorescent retinal lesion, Rod-cone dystrophy, Macro... OMIM:250410
Xq21 Microdeletion Syndrome
Visual acuity test abnormality, Progressive night blindness, Sensorineural hearing impairment, Co... ORPHA:1435
Retinitis Pigmentosa
Progressive night blindness, Blindness, Sensorineural hearing impairment, Conductive hearing impa... ORPHA:791
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Optic disc coloboma, Retinal detachment ORPHA:35737
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials, Optic atrophy ORPHA:2971
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Abnormality of visual evoked potentials, Decreased motor nerve conduction velocity, Optic disc pa... OMIM:601152
Bardet-Biedl Syndrome 1
Retinal degeneration, Myopia, Aganglionic megacolon, Rod-cone dystrophy, Hyperautofluorescent mac... OMIM:209900
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Conductive hearing impairment, Abnormality of the outer ear,... OMIM:201050
Werner Syndrome
Retinal degeneration OMIM:277700
Pantothenate Kinase-Associated Neurodegeneration
Bull's eye maculopathy, Retinal degeneration, Retinal flecks, Blindness, Pigmentary retinopathy, ... ORPHA:157850
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Diplopia, Macular degeneration ORPHA:284289
Cone-Rod Dystrophy 6
Progressive night blindness, Photophobia, Macular atrophy, Reduced visual acuity, Cone/cone-rod d... OMIM:601777
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Cerebellar atrophy, Parietal cortical atrophy, Retinal atrophy, Corpus callosum atrophy, Abnormal... ORPHA:412057
Joubert Syndrome 6
Blindness, Chorioretinal coloboma, Retinal degeneration OMIM:610688
Krabbe Disease
Abnormal flash visual evoked potentials, Optic atrophy, Decreased nerve conduction velocity OMIM:245200
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nyctalopia, Retinal degeneration OMIM:615630
Oculocutaneous Albinism Type 1A
Abnormality of visual evoked potentials, Ocular albinism, Hypoplasia of the fovea, Abnormality of... ORPHA:79431
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Visual loss, Abnormal cranial nerve morphology, Cerebellar cortical atrophy, Abnormal vestibulo-o... ORPHA:247234
Pseudoxanthoma Elasticum
Optic disc drusen, Visual impairment, Retinal hemorrhage, Choroidal neovascularization, Macular d... OMIM:264800
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Retinal degeneration, Sensorineural hearing impairment, Cerebral cortical atr... OMIM:248500
Pyruvate Dehydrogenase E2 Deficiency
Retinal degeneration, Peripheral visual field loss, Neurodegeneration ORPHA:79244
Neurodegeneration With Brain Iron Accumulation 2A
Abnormality of visual evoked potentials, Optic atrophy, Decreased nerve conduction velocity OMIM:256600
Infantile Krabbe Disease
Cherry red spot of the macula, Visual loss, Blindness, Decreased nerve conduction velocity, Prolo... ORPHA:206436
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration, Hypsarrhythmia ORPHA:542306
Late-Infantile/Juvenile Krabbe Disease
Visual loss, EEG with persistent abnormal rhythmic activity, Blindness, Decreased nerve conductio... ORPHA:206443
Autosomal Dominant Cerebellar Ataxia
Visual loss, Retinal degeneration, Sensorineural hearing impairment, Pigmentary retinopathy, Macu... ORPHA:99
Spinocerebellar Ataxia Type 7
Cerebral atrophy, Visual loss, Cerebellar atrophy, Blindness, Hemeralopia, Abnormal fundus morpho... ORPHA:94147
Mucolipidosis Iii Alpha/Beta
Retinopathy, Retinal degeneration OMIM:252600
Congenital Primary Aphakia
Retinal dysplasia ORPHA:83461
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Retinal degeneration, Low-set ears, Posteriorly rotated ears, Protruding ear, Visual impairment OMIM:618479
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Agyria, Low-set ears, Myopia, Blindness, Atresia of the external auditory canal, Optic nerve hypo... OMIM:236670
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Autosomal Recessive Spastic Paraplegia Type 11
Atrophy of the spinal cord, Orthostatic hypotension, Retinal degeneration, Cerebral cortical atro... ORPHA:2822
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of visual evoked potentials, Optic disc pallor, Optic atrophy, Decreased nerve conduc... ORPHA:485421
Mucopolysaccharidosis Type 3
Central nervous system degeneration, Constriction of peripheral visual field, Retinal degeneratio... ORPHA:581
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Chorioretinal coloboma, Undetectable visual evoked potentials ORPHA:163961
Kniest Dysplasia
Vitreoretinopathy, High myopia, Rhegmatogenous retinal detachment, Retinal detachment, Lattice re... ORPHA:485
Achalasia-Addisonianism-Alacrima Syndrome
Abnormality of visual evoked potentials, Orthostatic hypotension, Abnormal autonomic nervous syst... OMIM:231550
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials, Optic atrophy ORPHA:702
Friedreich Ataxia
Decreased amplitude of sensory action potentials, Optic atrophy, Abnormality of visual evoked pot... OMIM:229300
Cockayne Syndrome Type 1
Hearing impairment, Pigmentary retinopathy, Macrotia, Photophobia, Absent brainstem auditory resp... ORPHA:90321
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Macular coloboma, Retinal dystrophy, Aplasia/Hypoplasia of the optic nerve, Un... ORPHA:423479
Mucopolysaccharidosis Type 2
Large central visual field defect, Retinopathy, Retinal degeneration, Sensorineural hearing impai... ORPHA:580
Zika Virus Disease
Absent foveal reflex, Transient hearing impairment, Optic disc hypoplasia, Retinal pigment epithe... ORPHA:448237
Xq12-Q13.3 Duplication Syndrome
Abnormality of visual evoked potentials, Optic disc pallor ORPHA:314389
Pseudoxanthoma Elasticum, Forme Fruste
Visual impairment, Retinal hemorrhage, Myopia, Macular degeneration, Angioid streaks of the fundu... OMIM:177850
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
Nephronophthisis 11
Retinal degeneration OMIM:613550
Peho Syndrome
Optic atrophy, Undetectable visual evoked potentials OMIM:260565
Senior-Loken Syndrome 8
Visual impairment, Macular atrophy, Reduced visual acuity OMIM:616307
Charcot-Marie-Tooth Disease Type 1F
Cervical spinal cord atrophy, Sensorineural hearing impairment, Optic nerve hypoplasia, Decreased... ORPHA:101085
Cockayne Syndrome Type 3
Retinal degeneration, Adult onset sensorineural hearing impairment, Retinal hemorrhage, Hypermetr... ORPHA:90324
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Abnormality of visual evoked potentials, Optic atrophy OMIM:616875
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hypoplasia of the retina, EEG abnormality, Retinal degeneration, Myopia, Retinal dysplasia, Retin... OMIM:253280
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses ORPHA:3240
Hurler Syndrome
Recurrent otitis media, Retinal degeneration, Hearing impairment, Neurodegeneration OMIM:607014
Micro Syndrome
Abnormality of retinal pigmentation, Retinal coloboma, Abnormality of visual evoked potentials, O... ORPHA:2510
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Cerebral atrophy, Atrophy of the spinal cord, Retinal degeneration, Low-set ears, Pigmentary reti... ORPHA:79282
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Microphthalmia, Isolated 8
Retinal detachment, Optic nerve hypoplasia OMIM:615113
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Retinal thinning, Abnormality of retinal pigmentation, Retinal atrophy, Macular atrophy, Cone/con... ORPHA:85167
Adult Krabbe Disease
Visual loss, EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Infantile Neuroaxonal Dystrophy
Abnormality of visual evoked potentials, Abnormal autonomic nervous system physiology, Abnormalit... ORPHA:35069
Aceruloplasminemia
Abnormality of retinal pigmentation, Retinal degeneration, Macular degeneration ORPHA:48818
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Decreased nerve conduction velocity ORPHA:1933
Trichothiodystrophy
Retinal degeneration, Myopia, Bilateral sensorineural hearing impairment, Cerebral cortical atrop... ORPHA:33364
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormality of visual evoked potentials, Optic atrophy ORPHA:480898
Metachromatic Leukodystrophy, Late Infantile Form
Abnormality of visual evoked potentials, Optic atrophy, Decreased nerve conduction velocity ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Abnormality of visual evoked potentials, Optic atrophy, Decreased nerve conduction velocity ORPHA:309263
Coats Disease
Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Mpdu1-Cdg
Optic atrophy, Undetectable visual evoked potentials ORPHA:79323
Knobloch Syndrome
Abnormal vitreous humor morphology, Vitreoretinopathy, Visual loss, Myopia, Progressive visual lo... ORPHA:1571
Cockayne Syndrome A
Cerebral atrophy, Cerebellar atrophy, Hypermetropia, Sensorineural hearing impairment, Decreased ... OMIM:216400
Cockayne Syndrome
Cerebral atrophy, Cerebellar atrophy, Retinal degeneration, High-frequency sensorineural hearing ... ORPHA:191
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Cerebellar atrophy, Global brain atrophy, Optic n... ORPHA:909
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Cerebellar atrophy, Hearing impairment OMIM:193700
Maternal Uniparental Disomy Of Chromosome 2
Retinal degeneration ORPHA:96179
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cerebral atrophy, Myopia, Sensorineural hearing impairment, Aganglionic megacolon, Abnormal auton... OMIM:609136
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
Non-Specific Syndromic Intellectual Disability
Conductive hearing impairment, Papilledema, Retinal atrophy, Macrotia, Frontal cortical atrophy, ... ORPHA:528084
Warburg Micro Syndrome 2
Optic atrophy, Undetectable visual evoked potentials OMIM:614225
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormality of somatosensory evoked potentials, EEG with generalized slow activity, Atrophy of th... ORPHA:99027
Neurodegeneration With Brain Iron Accumulation 1
Retinal degeneration, Global brain atrophy, Pigmentary retinopathy, Neurodegeneration, Optic atro... OMIM:234200
Cockayne Syndrome B
Cerebral atrophy, Hypermetropia, Sensorineural hearing impairment, Decreased nerve conduction vel... OMIM:133540
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Optic disc pallor, Abnormality of pattern visual evoked potentials ORPHA:1947
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Abnormality of visual evoked potentials OMIM:614457
Metachromatic Leukodystrophy, Adult Form
Abnormality of visual evoked potentials, Orthostatic hypotension due to autonomic dysfunction, Op... ORPHA:309271
Alport Syndrome
Sensorineural hearing impairment, Macular degeneration, Retinal flecks ORPHA:63
Osteopetrosis With Renal Tubular Acidosis
Abnormal retinal morphology, Conductive hearing impairment, Retinal atrophy, Cranial nerve compre... ORPHA:2785
Trisomy 10P
Abnormality of the ear, Low-set ears, EEG with burst suppression, Abnormal auditory evoked potent... ORPHA:171929
Bohring-Opitz Syndrome
Low-set, posteriorly rotated ears, Retinal atrophy, Optic atrophy, High myopia ORPHA:97297
Say-Barber-Miller Syndrome
Low-set, posteriorly rotated ears, Rod-cone dystrophy, Macrotia, Macular degeneration, Protruding... ORPHA:3132
Cln5 Disease
Abnormality of visual evoked potentials ORPHA:228360
White-Sutton Syndrome
Rod-cone dystrophy, Optic nerve hypoplasia, Abnormality of visual evoked potentials OMIM:616364
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Retinal degeneration OMIM:208500
Ruvalcaba Syndrome
Abnormality of visual evoked potentials ORPHA:3121
Farber Disease
Cherry red spot of the macula, Brain atrophy, Macular degeneration ORPHA:333
Hermansky-Pudlak Syndrome
Abnormality of visual evoked potentials, Ocular albinism, Abnormality of the optic nerve ORPHA:79430
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Profound hearing impairment, Bilateral sensorineural hearing impairment, Macular atrophy, Nyctalo... OMIM:619418
Gaucher Disease, Type I
Macular atrophy OMIM:230800
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears ORPHA:401973
Aprosencephaly And Cerebellar Dysgenesis
Retinal dysplasia OMIM:601374
Autosomal Recessive Malignant Osteopetrosis
Abnormality of visual evoked potentials, Optic nerve compression ORPHA:667
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Abnormality of visual evoked potentials OMIM:203700
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Retinal degeneration ORPHA:79474
Metachromatic Leukodystrophy
Abnormality of visual evoked potentials, Decreased nerve conduction velocity ORPHA:512
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Facial palsy, Abnormality of visual evoked potentials ORPHA:258
Alström Syndrome
Severe sensorineural hearing impairment, Vestibular dysfunction, Retinal pigment epithelial atrop... 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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