banner
Genes Phenotypes Help, News, Blog

Gene: Nrl MGI:102567

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
neural retina leucine zipper gene
Synonyms:
N/A

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 Nrl 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 Nrl by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinitis Pigmentosa
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:791
Retinitis Pigmentosa 27
Rod-cone dystrophy, Chorioretinal atrophy, Macular edema, Peripapillary chorioretinal atrophy, Ma... OMIM:613750

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Leber Congenital Amaurosis 13
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:612712
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia ORPHA:1852
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... OMIM:608051
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:615990
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613809
Choroideremia
Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at... OMIM:303100
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Persistent Placoid Maculopathy
Abnormal macular morphology, Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigme... ORPHA:97341
Central Areolar Choroidal Dystrophy
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... ORPHA:75377
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... OMIM:180210
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Liberfarb Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... OMIM:618889
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Retinitis Pigmentosa 30
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... OMIM:607921
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy OMIM:615780
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Retinitis Pigmentosa 47
Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:613758
Retinitis Pigmentosa 33
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:610359
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Ceroid Lipofuscinosis, Neuronal, 7
Cerebral atrophy, Retinopathy, Neurodegeneration, Pigmentary retinopathy, Optic atrophy, Cerebell... OMIM:610951
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
Exudative Vitreoretinopathy 7
Retinal degeneration, Vitreoretinopathy, Retinal hole OMIM:617572
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Retinopathy, Corticospinal tract atrophy, Rod-cone dystrophy OMIM:551500
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar vermis atrophy, Retinal pigment epithelial mottling, Corpus callosum atrophy, Optic di... OMIM:619389
Retinitis Pigmentosa 54
Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retinal blood vessels, Ro... OMIM:613428
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:614180
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613801
Retinitis Pigmentosa 76
Cystoid macular edema, Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluore... OMIM:617123
Retinitis Pigmentosa 11
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... OMIM:600138
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Abnormal flash visual evoked potentials, Peripapillary atrophy, Macular degene... OMIM:618195
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... ORPHA:85128
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Retinitis Pigmentosa 7
Chorioretinal atrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dys... OMIM:608133
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Cerebral atrophy, Retinal detachment, Retinal dystrophy, Opt... OMIM:251270
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... OMIM:614500
Retinitis Pigmentosa 90
Cystoid macular edema, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, ... OMIM:619007
Stargardt Disease
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... ORPHA:827
Retinitis Pigmentosa 37
Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy OMIM:611131
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy OMIM:606068
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Macular atrophy OMIM:180104
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate OMIM:605750
Retinitis Pigmentosa 87 With Choroidal Involvement
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:618697
Retinitis Pigmentosa 88
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... OMIM:618826
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia OMIM:615771
Retinitis Pigmentosa 6
Chorioretinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy OMIM:312612
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
Retinitis Pigmentosa 4
Pigmentary retinopathy, Rod-cone dystrophy OMIM:613731
Retinitis Pigmentosa 19
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:601718
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... OMIM:304020
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Bietti Crystalline Dystrophy
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... ORPHA:41751
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Achromatopsia
Absent foveal reflex, Abnormal macular morphology, Retinal pigment epithelial mottling, Attenuati... ORPHA:49382
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Cerebral atrophy, Pigmentary retinopathy, Cerebellar atrophy OMIM:619090
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Retinal detachment, Cone dystrophy, Cone/cone-rod dystrophy OMIM:304030
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal atrophy, Re... OMIM:618144
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
Glutathione Synthetase Deficiency
Intention tremor, Pigmentary retinopathy OMIM:266130
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... OMIM:611040
Late-Onset Retinal Degeneration
Sub-RPE deposits, Retinopathy, Retinal degeneration, Rod-cone dystrophy OMIM:605670
Congenital Stationary Night Blindness
Congenital stationary night blindness with normal fundus, Abnormality of retinal pigmentation, Re... ORPHA:215
Retinal Cone Dystrophy 1
Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy OMIM:180020
Leber Congenital Amaurosis 2
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... OMIM:204100
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal atrophy, Retinal detachment, Chorioretinal dystrophy OMIM:600790
Spinocerebellar Ataxia 7
Optic atrophy, Tremor, Pigmentary retinopathy, Macular degeneration OMIM:164500
Retinitis Pigmentosa 13
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus OMIM:600059
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Facial palsy, Abnormality of retinal pigmentation ORPHA:2743
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... ORPHA:179
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Retinal degeneration OMIM:275400
Retinitis Pigmentosa 1
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:180100
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Leber Congenital Amaurosis 8
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... OMIM:613835
Retinitis Pigmentosa 86
Cystoid macular edema, Nummular pigmentation of the fundus, Attenuation of retinal blood vessels,... OMIM:618613
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... ORPHA:506353
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Leber Congenital Amaurosis 9
Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti... OMIM:608553
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma ORPHA:35737
Exudative Vitreoretinopathy 6
Posterior vitreous detachment, Chorioretinal atrophy, Exudative vitreoretinopathy, Retinal detach... OMIM:616468
Cone-Rod Dystrophy 3
Attenuation of retinal blood vessels, Pigmentary retinopathy, Cone/cone-rod dystrophy, Optic disc... OMIM:604116
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Eem Syndrome
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy ORPHA:1897
Retinitis Pigmentosa 41
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retino... OMIM:612095
Congenital Glaucoma
Retinal detachment ORPHA:98976
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment OMIM:614224
Retinitis Pigmentosa 12
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:600105
Retinitis Pigmentosa 50
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... OMIM:613194
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Dystonia, Pigmentary retinopathy, Rod-cone dystrophy OMIM:264470
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Bornholm Eye Disease
Optic nerve hypoplasia, Abnormality of retinal pigmentation OMIM:300843
Retinitis Pigmentosa 46
Optic disc pallor, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dystrophy OMIM:612572
Alpha-Methylacyl-Coa Racemase Deficiency
Intention tremor, Tremor, Pigmentary retinopathy, Rod-cone dystrophy OMIM:614307
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma ORPHA:2196
Retinitis Pigmentosa 2
Rod-cone dystrophy, Pigmentary retinopathy, Fundus atrophy, Chorioretinal degeneration, Bull's ey... OMIM:312600
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... ORPHA:79435
Macular Degeneration, Age-Related, 1
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... OMIM:603075
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy OMIM:613767
Laurence-Moon Syndrome
Pigmentary retinopathy OMIM:245800
Irvan Syndrome
Macular edema, Retinal detachment, Optic atrophy, Vitreous floaters, Tractional retinal detachmen... ORPHA:209943
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Photoreceptor layer loss on macular OCT, Retinal pigment epithelial mottling, Peripheral retinal ... OMIM:145350
Retinitis Pigmentosa 83
Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels, Asteroid hyalosi... OMIM:618173
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Cerebral atrophy ORPHA:397951
Oculorenocerebellar Syndrome
Choreoathetosis, Retinal degeneration OMIM:257970
Retinitis Pigmentosa 58
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:613617
Leber Congenital Amaurosis 1
Optic disc drusen, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atrophy OMIM:204000
Retinitis Pigmentosa 10
Rod-cone dystrophy, Attenuation of retinal blood vessels, Geographic atrophy, Optic disc pallor, ... OMIM:180105
Retinitis Pigmentosa 49
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:613756
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:613464
Cone-Rod Dystrophy 8
Abnormality of retinal pigmentation, Retinal arteriolar constriction, Macular degeneration, Cone/... OMIM:605549
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Retinitis Pigmentosa 43
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pall... OMIM:613810
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Cerebral cortical atrophy ORPHA:1466
Retinitis Pigmentosa 56
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal pigment... OMIM:613581
Narp Syndrome
Cerebral cortical atrophy, Rod-cone dystrophy, Retinal pigment epithelial mottling, Optic disc pa... ORPHA:644
Sjögren-Larsson Syndrome
Retinopathy, Generalized hyperpigmentation, Abnormality of retinal pigmentation, Macular degenera... ORPHA:816
Retinopathy, Pigmentary, And Mental Retardation
Pigmentary retinopathy OMIM:268050
Retinitis Pigmentosa 25
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic disc pallo... OMIM:602772
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Retinal Dystrophy And Obesity
Retinal detachment, Peripapillary atrophy, Retinal dystrophy, Retinal pigment epithelial atrophy OMIM:616188
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:300029
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Leber Congenital Amaurosis 15
Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy, Optic disc pallor OMIM:613843
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Heterochromia iridis ORPHA:1390
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation ORPHA:1433
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation ORPHA:1259
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal macular morphology, Hypopigmentation of hair, White... ORPHA:897
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy OMIM:600151
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Coats Disease
Abnormal macular morphology, Retinal detachment, Abnormal retinal vascular morphology ORPHA:190
Stickler Syndrome Type 2
Retinopathy, Retinal detachment, Abnormal vitreous humor morphology ORPHA:90654
Cone-Rod Dystrophy 10
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610283
Retinitis Pigmentosa 74
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy OMIM:616562
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Hypo... ORPHA:79434
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation ORPHA:141
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Retinitis Pigmentosa 14
Bone spicule pigmentation of the retina, Optic disc pallor, Retinal arteriolar constriction, Rod-... OMIM:600132
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... OMIM:305390
Oculopharyngodistal Myopathy 3
Tremor, Pigmentary retinopathy OMIM:619473
Retinitis Pigmentosa
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:791
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Retinal detachment ORPHA:171844
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... OMIM:193220
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hyperpigmented nevi, Blue irides, Heterochromia iridis, Hypo... ORPHA:79432
Acute Zonal Occult Outer Retinopathy
Abnormal retinal vascular morphology, Rod-cone dystrophy, Retinal pigment epithelial mottling, Ab... ORPHA:284454
Ramon Syndrome
Abnormality of retinal pigmentation ORPHA:3019
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia OMIM:614830
Enhanced S-Cone Syndrome
Retinoschisis, Macular edema, Pigmentary retinopathy, Vitreoretinopathy OMIM:268100
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Rhegmatog... ORPHA:364055
Leigh Syndrome With Leukodystrophy
Optic atrophy, Dystonia, Pigmentary retinopathy ORPHA:255241
Autosomal Recessive Spastic Paraplegia Type 15
Yellow/white lesions of the retina, Pigmentary retinopathy, Retinal flecks, Hand tremor ORPHA:100996
Retinitis Punctata Albescens
Absent foveal reflex, Cystoid macular edema, Abnormality of fundus pigmentation, Retinal pigment ... ORPHA:52427
Retinitis Pigmentosa 72
Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigment... OMIM:616469
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots OMIM:193230
Retinitis Pigmentosa 27
Rod-cone dystrophy, Chorioretinal atrophy, Macular edema, Peripapillary chorioretinal atrophy, Ma... OMIM:613750
Juvenile Paget Disease
Optic atrophy, Abnormality of retinal pigmentation, Melanocytic nevus ORPHA:2801
Cone-Rod Dystrophy 2
Chorioretinal atrophy, Cone/cone-rod dystrophy, Retinal pigment epithelial atrophy, Macular hyper... OMIM:120970
Cataract 21, Multiple Types
Retinal detachment, Macular hypoplasia OMIM:610202
Ataxia With Vitamin E Deficiency
Tremor, Abnormality of retinal pigmentation, Dystonia ORPHA:96
Stickler Syndrome, Type V
Retinal detachment, Vitreoretinopathy OMIM:614284
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1173
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration OMIM:614292
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... OMIM:133780
Retinitis Pigmentosa 66
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy OMIM:615233
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Dystonia, Pigmentary retinopathy OMIM:252011
Classic Pantothenate Kinase-Associated Neurodegeneration
Opisthotonus, Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor, Generalized dystonia ORPHA:216866
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... OMIM:193235
Congenital Muscular Dystrophy With Intellectual Disability
Facial palsy, Cerebral cortical atrophy, Pigmentary retinopathy ORPHA:370968
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy OMIM:605231
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Retinopathy, Chorioretinal atrophy, Abnormality of retinal pigmentation, Abnormal chorioretinal m... ORPHA:5
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Congenital Toxoplasmosis
Abnormality of retinal pigmentation ORPHA:858
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Cerebellar atrophy ORPHA:3085
Neonatal Adrenoleukodystrophy
Optic atrophy, Abnormality of retinal pigmentation ORPHA:44
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Brain atrophy, Pigmentary retinopathy OMIM:619059
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Posterior Column Ataxia With Retinitis Pigmentosa
Decreased sensory nerve conduction velocity, Rod-cone dystrophy, Attenuation of retinal blood ves... OMIM:609033
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Cerebellar atrophy, Cerebral atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:268020
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Leigh Syndrome
Optic atrophy, Dystonia, Pigmentary retinopathy OMIM:256000
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy OMIM:219900
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Cerebral cortical atrophy ORPHA:2518
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal degenerati... OMIM:615986
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Cone-Rod Dystrophy 6
Chorioretinal atrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atr... OMIM:601777
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Facial palsy, Cerebral cortical atrophy, Pigmentary retinopathy OMIM:613156
Mucolipidosis Type Iv
Retinopathy, Abnormality of retinal pigmentation ORPHA:578
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Numerous congenital melanocytic nevi, Generalized hyperpigme... ORPHA:2481
Zika Virus Disease
Absent foveal reflex, Retinal pigment epithelial mottling, Chorioretinal atrophy, Abnormal optic ... ORPHA:448237
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Rod-cone dystrophy, Axonal degeneration, Pigmentary retinopathy, Bone spicule... ORPHA:88628
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Optic atrophy, Choreoa... ORPHA:2715
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Retinal degeneration, Pigmentary retinopathy, Optic disc pallor, Cerebellar atr... ORPHA:79264
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation OMIM:108145
Vici Syndrome
Abnormality of retinal pigmentation, Cerebral cortical atrophy, Abnormal macular morphology, Hypo... ORPHA:1493
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Abnormality of visual evoked potentials, Temporal optic disc... ORPHA:1215
Congenital Rubella Syndrome
Abnormality of retinal pigmentation ORPHA:290
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Temporal optic disc pallor OMIM:619649
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dystrophy OMIM:300578
Aceruloplasminemia
Torticollis, Abnormality of retinal pigmentation, Blepharospasm, Retinal degeneration, Macular de... ORPHA:48818
Congenital Primary Aphakia
Retinal dysplasia ORPHA:83461
Bardet-Biedl Syndrome 17
Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule ... OMIM:615994
Joubert Syndrome 3
Pigmentary retinopathy, Retinal dystrophy OMIM:608629
Wolfram Syndrome 1
Optic atrophy, Tremor, Cerebral atrophy, Pigmentary retinopathy OMIM:222300
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:268315
Pantothenate Kinase-Associated Neurodegeneration
Leg dystonia, Retinal degeneration, Rod-cone dystrophy, Pallidal degeneration, Intention tremor, ... ORPHA:157850
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Congenital Bile Acid Synthesis Defect Type 4
Tremor, Pigmentary retinopathy ORPHA:79095
Lowry-Wood Syndrome
Abnormality of retinal pigmentation ORPHA:1824
Charcot-Marie-Tooth Disease, Type 4D
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Abnormal auditory e... OMIM:601455
Oculocutaneous Albinism Type 1
Abnormality of visual evoked potentials, Hypoplasia of the fovea, Depigmented fundus, Optic nerve... ORPHA:352731
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal... ORPHA:320401
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Mottled pigmentation of photoexposed areas, Pigmentary retinopathy OMIM:560000
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation ORPHA:2163
Refsum Disease
Retinopathy, Abnormality of retinal pigmentation ORPHA:773
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormality of visual evoked potentials OMIM:617523
Mulibrey Nanism
Pigmentary retinopathy OMIM:253250
Autosomal Dominant Cerebellar Ataxia
Torticollis, Action tremor, Laryngeal dystonia, Retinal degeneration, Macular degeneration, Resti... ORPHA:99
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of peripheral nerve conduction, Abnormality of retinal pigmentation ORPHA:585
Microphthalmia, Isolated 8
Retinal coloboma, Optic nerve hypoplasia, Retinal detachment, Hypoplastic optic chiasm OMIM:615113
Xeroderma Pigmentosum, Complementation Group B
Decreased nerve conduction velocity, Pigmentary retinopathy, Optic atrophy, Freckling, Cerebellar... OMIM:610651
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Micro Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Retinal coloboma, Cerebral cortical atrophy ORPHA:2510
Usher Syndrome
Abnormality of retinal pigmentation, Cerebral cortical atrophy, Vestibular areflexia ORPHA:886
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:2235
Cohen Syndrome
Optic atrophy, Bull's eye maculopathy, Bone spicule pigmentation of the retina, Chorioretinal dys... OMIM:216550
Lowry-Wood Syndrome
Pigmentary retinopathy OMIM:226960
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Melanocytic nevus, Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Generalized ... ORPHA:1969
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy ORPHA:3208
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Abnormality of retinal pigmentation, Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, ... ORPHA:85167
Coats Disease
Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Optic atrophy, Optic disc pallor, Decreased motor nerve conduction velocity, Abnormality of visua... OMIM:601152
Bardet-Biedl Syndrome
Pigmentary retinopathy ORPHA:110
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Retinal degeneration, Neurodegeneration, Pigmentary retinopathy, Optic atrophy, Tr... OMIM:234200
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Pigmentary retinopathy, Tremor ORPHA:502423
Kearns-Sayre Syndrome
Pigmentary retinopathy OMIM:530000
Myopathy, Mitochondrial, And Ataxia
Tremor, Pigmentary retinopathy OMIM:617675
Neuromuscular Oculoauditory Syndrome
Retinal pigment epithelial mottling, Decreased amplitude of sensory action potentials, Chorioreti... OMIM:618733
Peroxisome Biogenesis Disorder 5A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Optic nerve dysplasia OMIM:614866
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Optic nerve dysplasia OMIM:214110
Prolidase Deficiency
White forelock, Abnormality of retinal pigmentation ORPHA:742
Mucopolysaccharidosis, Type Ii
Papilledema, Abnormality of retinal pigmentation, Neurodegeneration OMIM:309900
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy OMIM:609015
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Optic atrophy, Pigmentary retinopathy ORPHA:436271
Oculocutaneous Albinism Type 1A
Abnormality of visual evoked potentials, Ocular albinism, Hypoplasia of the fovea, Abnormality of... ORPHA:79431
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of retinal pigmentation, Brain atrophy, Tongue tremor, Atrophy of the spinal cord, Ab... ORPHA:466768
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy ORPHA:96180
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:220110
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Perifoveal ring of hyperautofluorescence, Vitiligo, Pigmentary retinopathy OMIM:240300
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy OMIM:125310
Werner Syndrome
White forelock, Premature graying of hair, Abnormality of retinal pigmentation ORPHA:902
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy OMIM:612582
Coffin-Lowry Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Cerebral cortical atrophy ORPHA:192
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Hypermelanotic macule, Pigmentary retinopathy, Optic atrophy... ORPHA:90321
Cohen Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of skin pigmentation, Chorioretin... ORPHA:193
Friedreich Ataxia
Optic atrophy, Decreased amplitude of sensory action potentials, Abnormality of visual evoked pot... OMIM:229300
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Optic disc pallor, Abnormality of visual evoked potentials, Decreased nerve conduc... ORPHA:485421
Chédiak-Higashi Syndrome
Spotty hyperpigmentation, Abnormality of retinal pigmentation, Brain atrophy, Decreased nerve con... ORPHA:167
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Tremor, Cerebral cortical atrophy, Pigmentary retinopathy OMIM:277400
Aicardi Syndrome
Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma, Optic atrophy, Abno... ORPHA:50
Classic Homocystinuria
Optic atrophy, Retinal detachment, Abnormality of retinal pigmentation ORPHA:394
Retinoblastoma
Abnormality of retinal pigmentation, Vitreous hemorrhage, Retinoblastoma, Heterochromia iridis, R... ORPHA:790
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy ORPHA:746
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy, Retinal detachment, Retinal dystrophy, Optic at... ORPHA:2526
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Orthostatic hypotension, Abnormality of visual evoked potentials, Abnormal autonom... OMIM:231550
Alstrom Syndrome
Pigmentary retinopathy, Cone/cone-rod dystrophy OMIM:203800
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy ORPHA:71212
Chromosome 8Q21.11 Deletion Syndrome
Pigmentary retinopathy OMIM:614230
Bardet-Biedl Syndrome 1
Retinal degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal dystrophy... OMIM:209900
Ramon Syndrome
Optic disc pallor, Pigmentary retinopathy OMIM:266270
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Dystonia, Pigmentary retinopathy, Rod-cone dystrophy ORPHA:255210
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Retinal degeneration, Cerebral atrophy, Abnormality of macular pigmentation, Pigmentary retinopat... ORPHA:79282
Cockayne Syndrome
Abnormality of retinal pigmentation, Action tremor, Decreased nerve conduction velocity, Retinal ... ORPHA:191
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Lingual dystonia, Action tremor, Cerebral atrophy, Pigmentary retinopathy, Cone/cone-rod dystroph... ORPHA:404454
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Brushfield spots, Cerebral cortical atrophy, Pigmentary retinopathy OMIM:214100
Cockayne Syndrome A
Decreased nerve conduction velocity, Cerebral atrophy, Retinal pigment epithelial mottling, Pigme... OMIM:216400
Khan-Khan-Katsanis Syndrome
Pigmentary retinopathy OMIM:618460
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Abnormality of retinal pigmentation, Brain atrophy ORPHA:505248
Mucopolysaccharidosis Type 2
Abnormality of retinal pigmentation, Decreased nerve conduction velocity, Abnormal foveal morphol... ORPHA:580
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Hypopigmented skin patches, Retinal dystrophy, Abnormality o... ORPHA:2556
Abetalipoproteinemia
Abnormality of retinal pigmentation, Rod-cone dystrophy, Hypopigmentation of the fundus ORPHA:14
Trisomy 18
Abnormality of retinal pigmentation ORPHA:3380
Melas
Cerebral cortical atrophy, Brain atrophy, Pigmentary retinopathy, Optic atrophy, Vitiligo ORPHA:550
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Retinal pigment epithelial mottling, Atrophy/Degeneration involving the spinal cord OMIM:607459
Cancer-Associated Retinopathy
Granular macular appearance, Diffuse cerebellar atrophy, Retinal pigment epithelial atrophy, Opti... ORPHA:71505
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation, Aganglionic megacolon ORPHA:175
Infantile Nephropathic Cystinosis
Pigmentary retinopathy ORPHA:411629
Mucopolysaccharidosis Type 3
Retinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy, Optic atrophy, Central nervous ... ORPHA:581
Cockayne Syndrome B
Cerebral atrophy, Decreased nerve conduction velocity, Pigmentary retinopathy, Optic atrophy, Tre... OMIM:133540
Mucopolysaccharidosis Type 2, Severe Form
Abnormality of retinal pigmentation, Abnormal foveal morphology, Papilledema, Retinopathy, Optic ... ORPHA:217085
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Freckling, Heterochromia irid... ORPHA:636
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormality of retinal pigmentation, Abnormal foveal morphology, Papilledema, Retinopathy, Optic ... ORPHA:217093
Spondylocarpotarsal Synostosis Syndrome
Abnormality of retinal pigmentation OMIM:272460
Aprosencephaly And Cerebellar Dysgenesis
Retinal dysplasia OMIM:601374
Tubulointerstitial Nephritis And Uveitis Syndrome
Vitreous hemorrhage, Abnormality of retinal pigmentation, Cystoid macular edema, Papilledema, Mac... ORPHA:91500
Linear Skin Defects With Multiple Congenital Anomalies 1
Pigmentary retinopathy OMIM:309801
Cystinosis, Nephropathic
Cerebral atrophy, Retinal pigment epithelial mottling, Retinopathy, Hypopigmentation of the skin,... OMIM:219800
Proteus Syndrome
Abnormality of retinal pigmentation, Irregular hyperpigmentation, Retinal nonattachment, Generali... ORPHA:744
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Retinal degeneration, Patchy hypo- and hyperpigmentation, Wh... ORPHA:79474
Pearson Syndrome
Cafe-au-lait spot, Hyperpigmentation of the skin, Pigmentary retinopathy ORPHA:699
Alagille Syndrome 1
Chorioretinal atrophy, Pigmentary retinopathy OMIM:118450
Hardikar Syndrome
Pigmentary retinopathy OMIM:301068
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Pigmentary retinopathy OMIM:606721
Wiedemann-Rautenstrauch Syndrome
Action tremor, Pigmentary retinopathy, Optic atrophy, Tremor, Optic disc hypoplasia ORPHA:3455

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 Nrl

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 Nrl.

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

Order Mouse and ES Cells

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

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Nrltm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter