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Gene: Crx MGI:1194883

Gene Summary

Name:

cone-rod homeobox

Synonyms:

Crx1

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal thymus morphology	Crx^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
small thymus	Crx^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal heart morphology	Crx^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal testis morphology	Crx^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
small testis	Crx^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged urinary bladder	Crx^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged thymus	Crx^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged heart	Crx^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
decreased exploration in new environment	Crx^{em1(IMPC)Ccpcz}	HOM	Early adult	9.55×10^-07
short tibia	Crx^{em1(IMPC)Ccpcz}	HOM	Early adult	4.08×10^-05
abnormal skin morphology	Crx^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal seminal vesicle morphology	Crx^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal retina morphology	Crx^{em1(IMPC)Ccpcz}	HOM	Early adult	4.40×10^-07
increased NK cell number	Crx^{em1(IMPC)Ccpcz}	HOM	Early adult	6.75×10^-05
increased fasting circulating glucose level	Crx^{em1(IMPC)Ccpcz}	HOM	Early adult	2.07×10^-07
abnormal urinary bladder morphology	Crx^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00

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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.

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Hind Leg and Hip

32 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Forepaw

16 Images

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Human diseases caused by Crx 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.

Human diseases associated with Crx (5 diseases)
Human diseases predicted to be associated with Crx (1062 diseases)

The table below shows human diseases associated to Crx by orthology or direct annotation.

Disease	Matching phenotypes	Source
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Retinitis Pigmentosa	Abnormality of retinal pigmentation, Blindness, Abnormal retinal vascular morphology, Optic atrop...	ORPHA:791
Leber Congenital Amaurosis 7	Photophobia, Visual impairment	OMIM:613829

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

Disease	Matching phenotypes	Source
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Retinopathy	ORPHA:1995
Retinitis Pigmentosa 42	Reduced visual acuity, Perifoveal ring of hyperautofluorescence, Peripapillary atrophy, Rod-cone ...	OMIM:612943
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Sorsby Pseudoinflammatory Fundus Dystrophy	Blindness, Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Lar...	ORPHA:59181
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Stargardt Disease 3	Macular flecks, Macular atrophy, Reduced visual acuity, Macular dystrophy, Visual impairment	OMIM:600110
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:615990
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Drusen, Reticular pigmentary degeneration, Retinal dystrophy	OMIM:267800
Macular Dystrophy, Patterned, 2	Drusen, Pattern dystrophy of the retina, Reduced visual acuity, Foveal hyperpigmentation	OMIM:608970
Macular Dystrophy, Patterned, 3	Reduced visual acuity, Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy	OMIM:617111
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Macular Dystrophy, Retinal, 2	Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal...	OMIM:608051
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613809
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Retinitis Pigmentosa 29	Blindness, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:612165
Macular Dystrophy, Vitelliform, 5	Moderately reduced visual acuity, Central scotoma, Reduced visual acuity, Vitelliform-like macula...	OMIM:616152
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor...	ORPHA:97341
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Blindness, Macular ...	OMIM:613750
Choroideremia	Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m...	OMIM:303100
Optic Atrophy 9	Optic disc pallor, Red-green dyschromatopsia, Optic atrophy, Reduced visual acuity, Paracentral s...	OMIM:616289
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Blindness, Constriction of peripheral...	OMIM:600138
Bietti Crystalline Dystrophy	Blindness, Retinal pigment epithelial atrophy, Retinal thinning, Large central visual field defec...	ORPHA:41751
Macular Dystrophy, Retinal, 1, North Carolina Type	Peripheral retinal atrophy, Drusen, Central scotoma, Reduced visual acuity, Abnormality of macula...	OMIM:136550
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Pigmentary retinopathy	OMIM:179840
Macular Dystrophy, Vitelliform, 2	Reduced visual acuity, Subretinal fluid, Cystoid macular degeneration, Macular dystrophy, Visual ...	OMIM:153700
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Scotoma, Chorioretinal degeneration, Visual loss,...	OMIM:605670
Macular Dystrophy, Retinal, 3	Macular drusen, Retinal pigment epithelial atrophy, Central scotoma, Reduced visual acuity, Color...	OMIM:608850
Atrophia Maculosa Varioliformis Cutis, Familial	Macular atrophy	OMIM:601341
Retinitis Pigmentosa 47	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy	OMIM:613758
Retinopathy Of Prematurity	Tractional retinal detachment, Blindness, Retinal arteriolar tortuosity, Abnormal retinal vascula...	ORPHA:90050
Leber Congenital Amaurosis 12	Congenital blindness, Abnormality of macular pigmentation	OMIM:610612
Macular Dystrophy, Patterned, 1	Metamorphopsia, Choroidal neovascularization, Nyctalopia, Absent foveal reflex, Reduced visual ac...	OMIM:169150
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Co...	OMIM:616544
Macular Degeneration, Age-Related, 11	Macular degeneration	OMIM:611953
Macular Degeneration, Age-Related, 4	Macular degeneration	OMIM:610698
Macular Degeneration, Age-Related, 7	Macular degeneration	OMIM:610149
Macular Degeneration, Age-Related, 2	Macular degeneration	OMIM:153800
Macular Degeneration, Age-Related, 6	Macular degeneration	OMIM:613757
Macular Degeneration, Age-Related, 15	Macular degeneration	OMIM:615591
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment...	OMIM:618889
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Myopia, Pericentral scotoma, Macular atrophy, Scotoma, N...	OMIM:620342
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Blindness, Macular atrophy, Nyctalopia, Progressive visu...	OMIM:617781
Retinitis Pigmentosa Inversa With Deafness	Blindness, Rod-cone dystrophy, Retinitis pigmentosa inversa	OMIM:268010
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Leber Hereditary Optic Neuropathy, Autosomal Recessive 1	Retinal telangiectasia, Retinal nerve fiber edema, Central scotoma, Central retinal vessel vascul...	OMIM:619382
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Nyctalopia, R...	OMIM:614181
Macular Degeneration, Age-Related, 13	Drusen, Macular degeneration, Choroidal neovascularization, Macular scar	OMIM:615439
Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome	Severely reduced visual acuity, Rod-cone dystrophy	ORPHA:3011
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Blindness, Nyctalopia, Reduced visual a...	OMIM:613731
Sorsby Fundus Dystrophy	Macular dystrophy, Blindness, Chorioretinal atrophy	OMIM:136900
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy	OMIM:613827
Macular Degeneration, Early-Onset	Macular degeneration, Choroidal neovascularization, Reduced visual acuity	OMIM:616118
Retinitis Pigmentosa 35	Blindness, Rod-cone dystrophy, Reduced visual acuity, Nyctalopia	OMIM:610282
Senior-Loken Syndrome 6	Rod-cone dystrophy, Reduced visual acuity, Visual impairment	OMIM:610189
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Doyne Honeycomb Retinal Dystrophy	Reticular pigmentary degeneration, Retinal dystrophy	OMIM:126600
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Macular Dystrophy, Vitelliform, 1	Reduced visual acuity, Visual field defect, Vitelliform-like macular lesions, Macular dystrophy, ...	OMIM:153840
Cone-Rod Dystrophy 7	Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy, Visual impairment, Color vision...	OMIM:603649
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Large central visual...	ORPHA:85128
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Retinitis Pigmentosa 68	Bone spicule pigmentation of the retina, Retinal atrophy, Nyctalopia, Reduced visual acuity, Visu...	OMIM:615725
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:1178
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal thinnin...	OMIM:617123
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Pigmentary retinopathy, Neurodegeneration, R...	OMIM:610951
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Stargardt Disease 4	Macular degeneration, Retinal flecks, Reduced visual acuity	OMIM:603786
Macular Dystrophy, Vitelliform, 4	Drusen, Macular dystrophy, Vitelliform-like macular lesions, Moderately reduced visual acuity	OMIM:616151
Cone-Rod Dystrophy, X-Linked, 1	Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Nyctalopia, Redu...	OMIM:304020
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Retinitis Pigmentosa 54	Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin...	OMIM:613428
Retinitis Pigmentosa 70	Optic disc pallor, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Ma...	OMIM:615922
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Macular dystrophy, Blindness, Reduced visual acuity	OMIM:601553
Retinitis Pigmentosa 78	Optic disc pallor, Photopsia, Nyctalopia, Reduced visual acuity, Visual field defect, Cystoid mac...	OMIM:617433
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Newfoundland Rod-Cone Dystrophy	Retinal dystrophy, Scotoma, Nyctalopia, Visual impairment, Color vision defect	OMIM:607476
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:614180
Macular Dystrophy, Vitelliform, 3	Metamorphopsia, Choroidal neovascularization, Macular atrophy, Drusen, Reduced visual acuity, Pho...	OMIM:608161
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2246
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Retinitis Pigmentosa 63	Optic disc pallor, Nyctalopia, Rod-cone dystrophy, Blurred vision	OMIM:614494
Retinitis Pigmentosa 40	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613801
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ...	OMIM:618697
Progressive Bifocal Chorioretinal Atrophy	Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy	ORPHA:75373
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Retinitis Pigmentosa 20	Nyctalopia, Severely reduced visual acuity, Rod-cone dystrophy, Visual impairment, Attenuation of...	OMIM:613794
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy	OMIM:172870
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Macular Degeneration, Atrophic, X-Linked	Macular degeneration, Reduced visual acuity	OMIM:300834
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Constriction of peri...	OMIM:619007
Cone-Rod Dystrophy 12	Cone/cone-rod dystrophy, Bull's eye maculopathy, Central scotoma, Nyctalopia, Reduced visual acui...	OMIM:612657
Cone-Rod Dystrophy 15	Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Nyctalopia, Photopho...	OMIM:613660
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
Retinitis Pigmentosa 18	Scotoma, Nyctalopia, Progressive visual field defects, Retinal arteriolar constriction, Rod-cone ...	OMIM:601414
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Retinitis Pigmentosa 71	Optic disc pallor, Nyctalopia, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-c...	OMIM:616394
Optic Atrophy 13 With Retinal And Foveal Abnormalities	Optic atrophy, Reduced visual acuity, Attenuation of retinal blood vessels	OMIM:165510
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Optic disc pallor, Blindness, Macular atrophy, Nyctalopia, Reduced visua...	OMIM:604393
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz...	OMIM:614500
Macular Dystrophy, Retinal, 4	Reduced OCT-measured foveal thickness, Nyctalopia, Choroidal neovascularization, Reduced visual a...	OMIM:619977
Retinitis Pigmentosa 7	Constriction of peripheral visual field, Nyctalopia, Adult-onset night blindness, Chorioretinal a...	OMIM:608133
Cone-Rod Dystrophy 21	Retinal dystrophy, Macular atrophy, Nyctalopia, Reduced visual acuity, Photophobia	OMIM:616502
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities	Optic disc pallor, Retinal dystrophy, Central scotoma, Nyctalopia, Reduced visual acuity, Photoph...	OMIM:616079
Choroideremia	Abnormality of retinal pigmentation, Myopia, Nyctalopia, Abnormality of vision, Progressive visua...	ORPHA:180
Retinal Capillary Malformation	Myopia, Blindness, Subretinal exudate, Central fundal arteriolar microaneurysms, Photopsia, Vitre...	ORPHA:71213
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Myopia, Constriction of peripheral vi...	OMIM:180100
Cone-Rod Dystrophy 22	Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ...	OMIM:619531
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Retinitis Pigmentosa 85	Progressive night blindness, Rod-cone dystrophy, Reduced visual acuity	OMIM:618345
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Nyctalopia, Reduced visual acuity, Retinal flecks, Rod-con...	OMIM:613194
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:617460
Retinitis Pigmentosa 69	Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Pigmentary retinopath...	OMIM:615780
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema	OMIM:180104
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Retinal dysplasia	OMIM:615041
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy, Corticospinal tract atrophy	OMIM:551500
Cone Dystrophy 3	Cone/cone-rod dystrophy, Macular atrophy, Reduced visual acuity, Photophobia, Progressive visual ...	OMIM:602093
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Exudative Vitreoretinopathy 3	Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Best Vitelliform Macular Dystrophy	Metamorphopsia, Visual field defect, Cystoid macular degeneration, Choroideremia, Visual impairme...	ORPHA:1243
Cone-Rod Dystrophy 13	Cone/cone-rod dystrophy, Reduced visual acuity, Photophobia, Macular degeneration, Visual impairm...	OMIM:608194
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Ring scotoma, N...	OMIM:300029
Optic Atrophy 5	Optic disc pallor, Constriction of peripheral visual field, Central scotoma, Abnormality of patte...	OMIM:610708
Mental Retardation With Optic Atrophy, Deafness, And Seizures	Blindness, Optic atrophy, Severely reduced visual acuity	OMIM:309555
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A...	OMIM:618220
Retinitis Pigmentosa 2	Pericentral scotoma, Myopia, Constriction of peripheral visual field, Ring scotoma, Bull's eye ma...	OMIM:312600
Retinitis Pigmentosa 92	Constriction of peripheral visual field, Nyctalopia, Paracentral scotoma, Pigmentary retinopathy,...	OMIM:619614
Bothnia Retinal Dystrophy	Macular degeneration, Nyctalopia, Retinal dystrophy	OMIM:607475
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Cavitary Optic Disc Anomalies	Nyctalopia, Peripapillary atrophy, Reduced visual acuity, Visual field defect	OMIM:611543
Leber Congenital Amaurosis 2	Optic disc pallor, Blindness, Fundus atrophy, Nyctalopia, Absent foveal reflex, Reduced visual ac...	OMIM:204100
Retinitis Pigmentosa	Constriction of peripheral visual field, Rod-cone dystrophy, Abnormality of fundus pigmentation, ...	OMIM:268000
Achromatopsia 7	Hypoplasia of the fovea, Macular atrophy, Central scotoma, Absent foveal reflex, Reduced visual a...	OMIM:616517
Retinitis Pigmentosa 6	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration	OMIM:312612
Prolonged Electroretinal Response Suppression 2	Mildly reduced visual acuity, Difficulty adjusting to changes in luminance, Reduced visual acuity...	OMIM:620344
Temporal Arteritis	Blindness, Retinal arteritis	OMIM:187360
Usher Syndrome, Type Iiia	Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Visual field defect	OMIM:276902
Usher Syndrome, Type Iv	Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field...	OMIM:618144
Fleck Retina, Familial Benign	Nyctalopia, Retinal flecks, Visual impairment	OMIM:228980
Exudative Vitreoretinopathy 5	Reduced visual acuity, Exudative vitreoretinopathy, Falciform retinal fold, Visual impairment, Re...	OMIM:613310
Tritanopia	Abnormal retinal morphology, Reduced visual acuity, Color vision test abnormality, Photophobia, T...	ORPHA:88629
Fundus Albipunctatus	Nyctalopia, Retinal flecks, Fundus albipunctatus	OMIM:136880
Macular Dystrophy With Central Cone Involvement	Optic disc pallor, Bull's eye maculopathy, Central scotoma, Red-green dyschromatopsia, Reduced vi...	OMIM:616170
Spinocerebellar Ataxia, Autosomal Recessive 29	Cerebellar atrophy, Optic disc pallor, Corpus callosum atrophy, Retinal pigment epithelial mottli...	OMIM:619389
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:611040
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Myopia, Retinal thinning, Nyctalopia, Reduced visual acuity,...	ORPHA:215
Intellectual Developmental Disorder And Retinitis Pigmentosa	Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti...	OMIM:618195
Optic Atrophy 12	Optic disc pallor, Optic atrophy, Reduced visual acuity, Photophobia, Dyschromatopsia, Abnormal I...	OMIM:618977
Usher Syndrome, Type Iid	Nyctalopia, Rod-cone dystrophy	OMIM:611383
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Cone Dystrophy 4	Cone/cone-rod dystrophy, Reduced visual acuity, Absent foveal reflex, Photophobia, Dyschromatopsi...	OMIM:613093
Central Retinal Vein Occlusion	Papilledema, Large central visual field defect, Epiretinal membrane, Visual loss, Intraretinal he...	ORPHA:411527
Achromatopsia	Hypoplasia of the fovea, Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial m...	ORPHA:49382
Retinal Cone Dystrophy 3B	Cone/cone-rod dystrophy, Myopia, Scotoma, Macular atrophy, Nyctalopia, Reduced visual acuity, Pho...	OMIM:610356
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Exudative Vitreoretinopathy 4	Blindness, Peripheral retinal avascularization, Reduced visual acuity, Posterior vitreous detachm...	OMIM:601813
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Reduced visual acuity, Chorioretinal dysplasia, Visual impairment	OMIM:616335
Optic Atrophy 1	Central scotoma, Red-green dyschromatopsia, Optic atrophy, Reduced visual acuity, Abnormal amplit...	OMIM:165500
Exudative Vitreoretinopathy 1	Retinal detachment, Blindness, Peripheral retinal avascularization, Vitreous floaters, Reduced vi...	OMIM:133780
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Blindness, Large hyperpigmented retina...	OMIM:193235
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy	Optic disc pallor, Optic atrophy, Reduced visual acuity, Color vision defect	OMIM:618511
Optic Atrophy 3, Autosomal Dominant	Reduced visual acuity, Optic disc pallor, Optic atrophy, Scotoma	OMIM:165300
Leber Congenital Amaurosis 16	Optic disc pallor, Nyctalopia, Reduced visual acuity, Visual field defect, Photophobia, Visual im...	OMIM:614186
Ceroid Lipofuscinosis, Neuronal, 3	Blindness, Optic atrophy, Reduced visual acuity, Concentric hypertrophic cardiomyopathy, Macular ...	OMIM:204200
Bestrophinopathy, Autosomal Recessive	Hypermetropia, Retinal pigment epithelial atrophy, Reduced visual acuity, Retinal flecks	OMIM:611809
Retinitis Pigmentosa 31	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels	OMIM:609923
Leber Congenital Amaurosis 14	Optic disc pallor, Retinal dystrophy, Nyctalopia, Reduced visual acuity, Photophobia, Congenital ...	OMIM:613341
Blue Cone Monochromacy	Blue cone monochromacy, Myopia, Reduced visual acuity, Photophobia, Abnormality of macular pigmen...	OMIM:303700
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Constriction of peripheral visual field, Macular atrophy, Nyctalopia, Hypermetropia, Cystoid macu...	OMIM:267760
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Cerebellar atrophy, Pigmentary retinopathy, Cerebral atrophy	OMIM:619090
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation	ORPHA:35737
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Constriction...	OMIM:615973
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Hi...	OMIM:600105
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Retinal dystrophy, Peripheral retinal atrophy, Nyctalopia, Absent foveal reflex, Reduced visual a...	OMIM:615147
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Retinal Dystrophy And Obesity	Retinal detachment, Myopia, Retinal pigment epithelial atrophy, Retinal dystrophy, Reduced visual...	OMIM:616188
Cone-Rod Dystrophy, X-Linked, 3	Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Myopia, Central scotoma, Absent f...	OMIM:300476
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field...	OMIM:617304
Cone-Rod Dystrophy 18	Cone/cone-rod dystrophy, Central scotoma, Reduced visual acuity, High myopia, Foveal hyperpigment...	OMIM:615374
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Reduced visual acuity, Macular edema, Photo...	ORPHA:209943
Night Blindness, Congenital Stationary, Type 1F	Retinal perforation, Nyctalopia, Reduced visual acuity, High myopia, Congenital stationary night ...	OMIM:615058
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Pe...	OMIM:613756
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Vitreous floate...	OMIM:618173
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation, Facial palsy	ORPHA:2743
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s...	ORPHA:506353
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Leber Congenital Amaurosis 1	Blindness, Fundus atrophy, Nyctalopia, Reduced visual acuity, Optic disc drusen, Photophobia, Pig...	OMIM:204000
Hyperleucine-Isoleucinemia	Retinal degeneration	OMIM:238340
Retinitis Pigmentosa 46	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels	OMIM:612572
Retinal Cone Dystrophy 3A	Cone dystrophy, Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Dyschromatopsia	OMIM:610024
Leber Congenital Amaurosis 8	Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa...	OMIM:613835
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Wolfram-Like Syndrome, Autosomal Dominant	Optic disc pallor, Blind-spot enlargment, Optic atrophy, Reduced visual acuity, Severely reduced ...	OMIM:614296
Retinal Cone Dystrophy 1	Cone/cone-rod dystrophy, Bull's eye maculopathy, Photophobia, Progressive visual loss, Retinal de...	OMIM:180020
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R...	OMIM:616108
Gyrate Atrophy Of Choroid And Retina	Myopia, Blindness, Nyctalopia, Foveoschisis, Chorioretinal atrophy, Macular thickening, Visual im...	OMIM:258870
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l...	OMIM:613617
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa	Absent retinal pigment epithelium, Nyctalopia, Abnormal fundus morphology, Abnormal optic nerve m...	ORPHA:436274
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:615233
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Bardet-Biedl Syndrome 21	Cone/cone-rod dystrophy, Hypoplasia of the fovea, Myopia, Retinal atrophy, Retinal thinning, Blin...	OMIM:617406
Usher Syndrome, Type 1M	Drusen, Optic disc pallor, Nyctalopia	OMIM:618632
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Blindness, Nyctalopia, Peripheral v...	OMIM:605549
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:180105
Canavan Disease	Abnormality of retinal pigmentation, Blindness, Optic atrophy, Abnormality of visual evoked poten...	ORPHA:141
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C...	OMIM:613983
Macular Degeneration, Age-Related, 1	Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg...	OMIM:603075
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Birdshot Chorioretinopathy	Arcuate scotoma, Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroi...	ORPHA:179
Retinitis Pigmentosa 51	Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, High myopia, Photopho...	OMIM:613464
Optic Atrophy 8	Abnormal auditory evoked potentials, Visual loss, Central scotoma, Abnormality of pattern visual ...	OMIM:616648
Ceroid Lipofuscinosis, Neuronal, 6A	Retinal degeneration	OMIM:601780
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Chorioretinal Atrophy, Progressive Bifocal	Retinal detachment, Chorioretinal dystrophy, Myopia, Chorioretinal atrophy, Visual impairment	OMIM:600790
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Pericentral scotoma, Peripheral retinal degeneration,...	OMIM:609021
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Retinitis Pigmentosa 93	Rod-cone dystrophy, Constriction of peripheral visual field, Retinal dots, Reduced visual acuity	OMIM:619845
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Exudative retinal detachment, Retinal arterial macroaneurysms	OMIM:614224
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Nyctalopia, Ch...	OMIM:601777
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Vitreoretinochoroidopathy	Retinal detachment, Blindness, Nyctalopia, Retinal arteriolar occlusion, Vitreous hemorrhage, Pig...	OMIM:193220
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:616469
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Oliver-Mcfarlane Syndrome	Pigmentary retinopathy, Central heterochromia, Retinal degeneration	OMIM:275400
Chromosome Xq21 Deletion Syndrome	Constriction of peripheral visual field, Chorioretinal degeneration, Nyctalopia, Chorioretinal at...	OMIM:303110
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Blindness, Optic atrophy	ORPHA:2787
Glutathione Synthetase Deficiency	Pigmentary retinopathy	OMIM:266130
Nystagmus 2, Congenital, Autosomal Dominant	Mildly reduced visual acuity, Reduced visual acuity, Visual impairment	OMIM:164100
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma	ORPHA:2196
Night Blindness, Congenital Stationary, Type 1G	Optic disc pallor, Constriction of peripheral visual field, Congenital stationary night blindness...	OMIM:616389
Cone-Rod Dystrophy 10	Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Photophobia, M...	OMIM:610283
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Retinal degeneration	OMIM:251700
Optic Atrophy 7 With Or Without Auditory Neuropathy	Optic disc pallor, Constriction of peripheral visual field, Central scotoma, Optic atrophy, Reduc...	OMIM:612989
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Optic disc pallor, Blind-spot enlargment, Central scotoma, Reduced visual acuity, Photophobia, Co...	OMIM:616732
Ceroid Lipofuscinosis, Neuronal, 1	Blindness, Optic atrophy, Macular degeneration, Progressive visual loss, Retinal degeneration	OMIM:256730
Adult-Onset Foveomacular Vitelliform Dystrophy	Visual field defect, Retinal nonattachment, Abnormality of vision, Vitelliform-like macular lesio...	ORPHA:99000
Nephronophthisis 15	Blindness, Retinal degeneration	OMIM:614845
Morm Syndrome	Retinal atrophy, Retinal dystrophy, Photophobia, Progressive night blindness, Visual impairment	ORPHA:75858
Cone-Rod Dystrophy 11	Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy	OMIM:610381
Nanophthalmos 4	Hypermetropia, Reduced visual acuity, Optic disc drusen	OMIM:615972
Eem Syndrome	Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy	ORPHA:1897
Gyrate Atrophy Of Choroid And Retina	Myopia, Blindness, Constriction of peripheral visual field, Chorioretinal degeneration, Chorioret...	ORPHA:414
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Central scotoma, Nyctalopi...	ORPHA:52427
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy...	OMIM:612447
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:602772
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst...	OMIM:613810
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Blindness, Reduced visual acuity, Abnormal optic disc morphology, Vitreoretinopathy, Retinal vasc...	ORPHA:440727
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Nyctalopia, Retinal dystrophy, Reduced visual acuity	OMIM:610156
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Cone-Rod Dystrophy 19	Cone/cone-rod dystrophy, Perifoveal ring of hyperautofluorescence, Reduced visual acuity, High my...	OMIM:615860
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:600132
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation, Cerebral atrophy	ORPHA:397951
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin...	OMIM:145350
Late-Onset Retinal Degeneration	Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr...	ORPHA:67042
Retinitis Pigmentosa 37	Constriction of peripheral visual field, Red-green dyschromatopsia, Nyctalopia, Reduced visual ac...	OMIM:611131
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Sandhoff Disease	Cherry red spot of the macula, Blindness, Congestive heart failure	ORPHA:796
Åland Islands Eye Disease	Hypoplasia of the fovea, Myopia, Difficulty adjusting from light to dark, Reduced visual acuity, ...	ORPHA:178333
Iris Pigment Layer, Cleavage Of	Peripheral retinal detachment	OMIM:147610
Acute Zonal Occult Outer Retinopathy	Blind-spot enlargment, Vitritis, Myopia, Retinal pigment epithelial mottling, Hemianopia, Rod-con...	ORPHA:284454
Heimler Syndrome 1	Macular dystrophy, Retinal pigment epithelial mottling	OMIM:234580
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1873
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Retinal degeneration	OMIM:520000
Congenital Glaucoma	Retinal detachment	ORPHA:98976
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
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy	ORPHA:3156
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Spinocerebellar Ataxia 7	Macular degeneration, Optic atrophy, Pigmentary retinopathy	OMIM:164500
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:245800
Bardet-Biedl Syndrome 3	Tricuspid regurgitation, Nyctalopia, Pigmentary retinopathy, Rod-cone dystrophy, Visual impairment	OMIM:600151
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Photophobia, Optic disc pallor, Retinal thinning, Reduced visual acuity	OMIM:618970
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Narp Syndrome	Optic disc pallor, Abnormal visual field test, Blindness, Constriction of peripheral visual field...	ORPHA:644
Oculocutaneous Albinism Type 6	Reduced visual acuity, Abnormal fundus morphology, Abnormal foveal morphology on macular OCT, Pho...	ORPHA:370097
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Pigmentary retinopathy, Retinal degeneration	ORPHA:3363
Albinism, Oculocutaneous, Type Vi	Hypoplasia of the fovea, Photophobia, Reduced visual acuity, Visual impairment	OMIM:113750
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Retinal detachment, Congenital blindness	ORPHA:436182
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation	ORPHA:1259
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation	ORPHA:1264
Retinitis Pigmentosa 75	Myopia, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Rod-co...	OMIM:617023
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Mildly reduced visual acuity, Vitreous floaters, Lattice retinal degeneration...	OMIM:614292
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Wolff-Parkinson-White syndrome, Blindness, Visual loss, Optic atrophy, Undetectable visual evoked...	OMIM:601338
Chromosome 16Q12 Duplication Syndrome	Retinal pigment epithelial mottling, Nyctalopia, Reduced visual acuity, High myopia, Photophobia,...	OMIM:619649
Myopia 3, Autosomal Dominant	Retinal detachment	OMIM:603221
Myopia 25, Autosomal Dominant	Retinal detachment	OMIM:617238
Myopia 2, Autosomal Dominant	Retinal detachment	OMIM:160700
Myopia 5, Autosomal Dominant	Retinal detachment	OMIM:608474
Cofs Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortical atrophy	ORPHA:1466
Bardet-Biedl Syndrome 4	Nyctalopia, Rod-cone dystrophy, Retinal degeneration	OMIM:615982
Night Blindness, Congenital Stationary, Type 1E	Congenital stationary night blindness, Reduced visual acuity, Visual impairment, High myopia	OMIM:614565
Spastic Paraplegia 81, Autosomal Recessive	Retinal vascular tortuosity, Optic atrophy, Reduced visual acuity, Cerebral visual impairment	OMIM:618768
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ...	OMIM:112910
Bardet-Biedl Syndrome 5	Macular dystrophy, Rod-cone dystrophy, Reduced visual acuity	OMIM:615983
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Retinitis Pigmentosa	Abnormality of retinal pigmentation, Blindness, Abnormal retinal vascular morphology, Optic atrop...	ORPHA:791
Spastic Paraplegia 82, Autosomal Recessive	Optic atrophy, Reduced visual acuity	OMIM:618770
Peroxisomal Acyl-Coa Oxidase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	OMIM:264470
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Sjögren-Larsson Syndrome	Retinopathy, Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmenta...	ORPHA:816
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Bietti Crystalline Corneoretinal Dystrophy	Constriction of peripheral visual field, Chorioretinal atrophy, Reduced visual acuity, High myopi...	OMIM:210370
Severe Early-Childhood-Onset Retinal Dystrophy	Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Photophobia, Retinal ...	ORPHA:364055
Enhanced S-Cone Syndrome	Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema	OMIM:268100
Early-Onset X-Linked Optic Atrophy	Optic disc pallor, Decreased nerve conduction velocity, Central scotoma, Optic atrophy, Reduced v...	ORPHA:98890
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis	ORPHA:1390
Congenital Disorder Of Glycosylation, Type Ig	Retinal detachment, Short humerus, Small scrotum, Hypospadias, Hypoglycemia, Rhizomelia, Short fe...	OMIM:607143
Neovascular Glaucoma	Retinal detachment, Abnormal posterior eye segment morphology, Retinal vascular proliferation, Vi...	ORPHA:94058
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation, Nyctalopia, Arrhythmia, Abnormality of visual evoked potenti...	ORPHA:96
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Myopia, Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate, Progressive...	OMIM:264420
Retinitis Pigmentosa 23	Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Mild myopia, Absent ...	OMIM:300424
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, Aganglionic megac...	ORPHA:897
Leber Congenital Amaurosis 15	Optic disc pallor, Myopia, Constriction of peripheral visual field, Nyctalopia, Reduced visual ac...	OMIM:613843
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation	ORPHA:171844
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Chromosome Xp11.3 Deletion Syndrome	Moderate myopia, Blindness, Constriction of peripheral visual field, Nyctalopia, Optic atrophy, P...	OMIM:300578
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots	OMIM:193230
Night Blindness, Congenital Stationary, Type 1B	Myopia, Bone spicule pigmentation of the retina, Nyctalopia, Hemeralopia, Congenital stationary n...	OMIM:257270
Retinal Dystrophy With Or Without Macular Staphyloma	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ...	OMIM:617547
Idiopathic Panuveitis	Blindness, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, R...	ORPHA:280921
Optic Pathway Glioma	Papilledema, Blindness, Visual loss, Optic atrophy, Reduced visual acuity, Visual field defect	ORPHA:2086
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79434
Retinitis Pigmentosa 59	Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Rod-cone dystrophy, C...	OMIM:613861
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Coloboma Of Macula	Macular coloboma	OMIM:120300
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology...	ORPHA:1215
Achromatopsia 2	Hypoplasia of the fovea, Retinal thinning, Nyctalopia, Absent foveal reflex, Reduced visual acuit...	OMIM:216900
Ethanolaminosis	Cardiomegaly	OMIM:227150
Night Blindness, Congenital Stationary, Type 1C	Congenital stationary night blindness, Myopia, Reduced visual acuity	OMIM:613216
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Retinal dysplasia	OMIM:614830
X-Linked Neurodegenerative Syndrome, Hamel Type	Blindness	ORPHA:85336
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Hypoplastic labia majora, Disproporti...	OMIM:619217
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Rhegmatogenous retinal detachment, Lattice retinal degeneration	OMIM:619248
Sarcosinemia	Congenital blindness, Hypertrophic cardiomyopathy, Optic atrophy, Pulmonic stenosis	ORPHA:3129
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium	ORPHA:1433
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:614307
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Ramon Syndrome	Abnormality of retinal pigmentation	ORPHA:3019
Oculocutaneous Albinism, Type Viii	Hypoplasia of the fovea, Photophobia, Chorioretinal hypopigmentation, Reduced visual acuity	OMIM:619165
Cataract 50 With Or Without Glaucoma	Retinal detachment	OMIM:620253
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:605231
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye...	ORPHA:79432
Retinitis Pigmentosa 89	Constriction of peripheral visual field, Retinal thinning, Nyctalopia, Hyperautofluorescent retin...	OMIM:618955
3-Methylglutaconic Aciduria, Type Iii	Optic atrophy, Reduced visual acuity, Visual impairment	OMIM:258501
Coats Disease	Abnormal retinal vascular morphology, Retinal detachment, Abnormal macular morphology	ORPHA:190
Hypotrichosis With Juvenile Macular Degeneration	Macular degeneration, Blindness, Abnormality of macular pigmentation	ORPHA:1573
Stickler Syndrome Type 2	Retinal detachment, Retinopathy, Abnormal vitreous humor morphology	ORPHA:90654
Cerebral Sclerosis, Diffuse, Scholz Type	Blindness	OMIM:302700
Atypical Pantothenate Kinase-Associated Neurodegeneration	Retinopathy, Blindness, Optic atrophy	ORPHA:216873
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Abnormality of retinal pigmentation, Myopia, Abnormal chorioretinal morphology, Visual loss, Nyct...	ORPHA:5
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Retinopathy	OMIM:219900
Myopia 28, Autosomal Recessive	Retinal detachment	OMIM:619781
Juvenile Paget Disease	Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus	ORPHA:2801
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Constriction of peripheral visual field, Patchy atrophy of the retinal pigment epithelium, Undete...	ORPHA:436245
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Myopia, Patchy atrophy of the retinal pigment ...	OMIM:616468
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1173
Methanol Poisoning	Blindness, Myocardial infarction, Cerebral hemorrhage, Permanent atrial fibrillation, Inflammator...	ORPHA:31825
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Blindness, ...	OMIM:609033
Idiopathic Uveal Effusion Syndrome	Metamorphopsia, Reduced visual acuity, Subretinal fluid, Visual field defect, Exudative retinal d...	ORPHA:209956
Night Blindness, Congenital Stationary, Type 2A	Congenital stationary night blindness, Reduced visual acuity, Visual impairment	OMIM:300071
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Retinal dysplasia	OMIM:615771
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy	OMIM:618234
Krabbe Disease	Decreased nerve conduction velocity, Abnormal flash visual evoked potentials, Blindness, Optic at...	OMIM:245200
Oculorenocerebellar Syndrome	Retinal degeneration	OMIM:257970
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Blindness, Myopia, Optic nerve hypoplasia	OMIM:615181
Retinitis Pigmentosa 74	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:616562
Microphthalmia, Isolated 6	High hypermetropia, Retinal fold, Amblyopia	OMIM:613517
Cln3 Disease	Blindness, Bull's eye maculopathy, Amblyopia, Optic atrophy, Pigmentary retinopathy, T-wave inver...	ORPHA:228346
Osteoporosis-Pseudoglioma Syndrome	Retinal detachment, Moderately reduced visual acuity, Visual acuity light perception with project...	ORPHA:2788
Severe Canavan Disease	Blindness, Optic atrophy	ORPHA:314911
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:1496
Peroxisome Biogenesis Disorder 9B	Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Cardiomyopathy, Rod-c...	OMIM:614879
Foveal Hypoplasia 2	Hypoplasia of the fovea, Reduced visual acuity, Foveal hyperpigmentation, Optic nerve misrouting	OMIM:609218
Infantile Refsum Disease	Constriction of peripheral visual field, Facial palsy, Nyctalopia, Optic atrophy, Cardiomyopathy,...	ORPHA:772
Mucous Membrane Pemphigoid	Blindness	ORPHA:46486
Congenital Toxoplasmosis	Abnormality of retinal pigmentation	ORPHA:858
Night Blindness, Congenital Stationary, Type1I	Tritanomaly, Nyctalopia	OMIM:618555
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:44
Aland Island Eye Disease	Hypoplasia of the fovea, Myopia, Severely reduced visual acuity	OMIM:300600
Migraine, Familial Hemiplegic, 3	Photophobia, Blindness	OMIM:609634
Leber Congenital Amaurosis 6	Photophobia, High hypermetropia, Severely reduced visual acuity, Attenuation of retinal blood ves...	OMIM:613826
Night Blindness, Congenital Stationary, Type 1H	Hypermetropia, Photophobia, Nyctalopia, Mild myopia	OMIM:617024
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy	OMIM:619473
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy, Brain atrophy	OMIM:619059
Sjogren-Larsson Syndrome	Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Reduced visual acuity, Ph...	OMIM:270200
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Abnormality of visual evoked potentials, Optic disc pallor, Abnormal auditory evoked potentials	OMIM:617523
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy, Cerebral cortical atrophy, Facial palsy	ORPHA:370968
Oculocutaneous Albinism Type 1	Hypoplasia of the fovea, Amblyopia, Reduced visual acuity, Depigmented fundus, Photophobia, Abnor...	ORPHA:352731
Behr Syndrome	Blindness, Optic atrophy, Hypoplastic optic chiasm, Progressive visual loss, Visual impairment	OMIM:210000
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Cerebellar atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Cerebral atrophy	OMIM:268020
Slc35A2-Cdg	Camptodactyly of finger, Coxa valga, Precocious puberty, Metatarsus adductus, Elevated circulatin...	ORPHA:356961
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cerebellar atrophy, Abnormality of retinal pigmentation	ORPHA:3085
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Large central visual field defect, Blindness, Tachycardia, Visual loss, Pigmen...	ORPHA:79264
Leber Congenital Amaurosis 3	Visual loss, Nyctalopia, Constriction of peripheral visual field	OMIM:604232
Bardet-Biedl Syndrome 16	Rod-cone dystrophy, Reduced visual acuity, Retinal degeneration	OMIM:615993
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Meg...	OMIM:222300
Corneal Dystrophy, Gelatinous Drop-Like	Photophobia, Reduced visual acuity, Visual impairment, Blurred vision	OMIM:204870
Peroxisomal Acyl-Coa Oxidase Deficiency	Abnormality of visual evoked potentials, Optic atrophy	ORPHA:2971
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Rod-cone dystrophy, Reduced visual acuity	OMIM:619082
Autosomal Recessive Spastic Paraplegia Type 15	Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina	ORPHA:100996
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Choroidal neovascularization, Angina pectoris, Congestive heart fail...	OMIM:264800
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Retinal dysplasia	ORPHA:324416
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortical atrophy	ORPHA:2518
Desmoid Tumor	Abnormality of retinal pigmentation	ORPHA:873
Wolfram Syndrome, Mitochondrial Form	Blindness, Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:598500
Femoral-Facial Syndrome	Short femur, Maternal diabetes, Micrognathia, Cryptorchidism, Long penis, Coxa vara, Abnormal fib...	ORPHA:1988
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ...	OMIM:212050
Usher Syndrome	Abnormality of retinal pigmentation, Blindness, Myopia, Nyctalopia, Abnormal cardiovascular syste...	ORPHA:886
Friedreich Ataxia	Abnormal EKG, Congestive heart failure, Optic atrophy, Reduced visual acuity, Visual field defect...	OMIM:229300
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615986
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt...	ORPHA:2481
Hypogonadism, Male	Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias	OMIM:241100
Leukodystrophy, Hypomyelinating, 14	Blindness	OMIM:617899
Nephronophthisis 14	Retinal degeneration	OMIM:614844
Hemochromatosis, Type 1	Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoos...	OMIM:235200
Neurodegeneration With Brain Iron Accumulation 2A	Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials	OMIM:256600
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy	ORPHA:329336
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy	OMIM:252011
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Abnormality of visua...	OMIM:601152
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Retinopathy	ORPHA:578
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Blindness, Abnormal atrioventricular conduction, Reduced visual acu...	ORPHA:3208
Refsum Disease, Classic	Congestive heart failure, Nyctalopia, Cardiomyopathy, Arrhythmia, Rod-cone dystrophy, Retinal deg...	OMIM:266500
Late Infantile Neuronal Ceroid Lipofuscinosis	Myopia, Blindness, Visual loss, Abnormal amplitude of flash visual evoked potentials, Reduced vis...	ORPHA:168491
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Severely reduced visual acuity, Retinal coloboma, Moderately reduced visual acuity, Chorioretinal...	ORPHA:2921
Bent Bone Dysplasia Syndrome 2	Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Hypoplastic iliac wing, Ulnar bowing, H...	OMIM:620076
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Myopia, Retinal atrophy, Retinal pigment epithelial atrophy, Ring scotoma, Epi...	OMIM:616959
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Oculocutaneous Albinism Type 5	Hypoplasia of the fovea, Ocular albinism, Reduced visual acuity, Abnormal fundus morphology, Phot...	ORPHA:370091
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatars...	OMIM:609945
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen...	OMIM:619313
Cataract 11, Multiple Types	Blindness	OMIM:610623
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Cardiomegaly	OMIM:300886
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy, Cognitive impairment	ORPHA:276183
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Pigmentary retinopathy, Cerebral cortical atrophy, Facial palsy	OMIM:613156
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility, Cognitive impairment	OMIM:613909
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Hypospadias, Broad hallux, 1-3 toe syndactyly, Cryptorchidism, Preaxial han...	OMIM:175700
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Blindness, Cerebral hemorrhage, Pulmonary embolism	OMIM:614514
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Leukoencephalopathy With Vanishing White Matter 1	Blindness, Optic atrophy	OMIM:603896
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat...	OMIM:605274
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy	Blindness	OMIM:607674
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:216866
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Optic disc pallor, Abnormality of pattern visual evoked potentials	ORPHA:1947
Retinal Dystrophy With Or Without Extraocular Anomalies	Retinal dystrophy, Reduced visual acuity	OMIM:617175
Spinocerebellar Ataxia Type 7	Cone/cone-rod dystrophy, Blindness, Visual loss, Congestive heart failure, Reduced visual acuity,...	ORPHA:94147
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Atrial septal defect, Retinal dystrophy, Pancreatic fibrosis, Ventricular septal defect, Preaxial...	OMIM:263520
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib...	ORPHA:52901
Usher Syndrome Type 3	Scotoma, Visual loss, Nyctalopia, Hemianopia, High hypermetropia	ORPHA:231183
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal...	OMIM:201170
Arthrogryposis, Distal, Type 5	Abnormality of retinal pigmentation, Retinal fold	OMIM:108145
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy	OMIM:268315
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A...	ORPHA:2378
Albinism, Ocular, Type I	Hypoplasia of the fovea, Ocular albinism, Reduced visual acuity, Depigmented fundus, Photophobia	OMIM:300500
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Mepan Syndrome	Abnormality of visual evoked potentials, Optic atrophy	ORPHA:508093
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Cryptorchidism, Squared iliac bones, Preaxi...	OMIM:616300
Congenital Primary Aphakia	Retinal dysplasia	ORPHA:83461
Leigh Syndrome	Pigmentary retinopathy, Optic atrophy	OMIM:256000
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Cardiomegaly, Glandular hypospadias, Talipes equinovarus, Short tibia	OMIM:620306
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy	OMIM:612291
Vici Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Hypopigmentation of the skin, Cerebral cortic...	ORPHA:1493
Primary Angiitis Of The Central Nervous System	Cerebral vasculitis, Abnormal visual field test, Transient ischemic attack, Diplopia, Reduced vis...	ORPHA:140989
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormal foot morphology, Vacuolated lymphocytes, Nephr...	OMIM:269920
Canavan Disease	Blindness, Optic atrophy, Visual impairment	OMIM:271900
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy, Abnormality of visual evok...	ORPHA:485421
Congenital Rubella Syndrome	Abnormality of retinal pigmentation	ORPHA:290
Usher Syndrome Type 1	Scotoma, Visual loss, Nyctalopia, Hemianopia, High hypermetropia	ORPHA:231169
Albinism, Oculocutaneous, Type Ii	Hypoplasia of the fovea, Myopia, Reduced visual acuity, Hypopigmentation of the fundus, Visual im...	OMIM:203200
Refsum Disease	Abnormality of retinal pigmentation, Heart block, Nyctalopia, Abnormality of vision, Cardiomyopat...	ORPHA:773
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Finger syndactyly, Abnormal...	ORPHA:3320
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Mesoaxial polydactyly, Bone spicule pigmentation of the retina, Short fo...	OMIM:615994
Hsd10 Disease, Infantile Type	Blindness, Visual loss, Optic atrophy, Hypertrophic cardiomyopathy, Rod-cone dystrophy, Retinal d...	ORPHA:391428
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Blindness, Pulmonary embolism, Abnormal retinal ...	ORPHA:3205
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy	OMIM:125310
Severe Oculo-Renal-Cerebellar Syndrome	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Hypopig...	ORPHA:2715
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Axonal degeneration, Pigmentary retinopathy, Abnormal se...	ORPHA:88628
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel...	OMIM:256550
Isolated Atp Synthase Deficiency	Blindness, Dilated cardiomyopathy, Optic atrophy, Arrhythmia, Hypertrophic cardiomyopathy, Rod-co...	ORPHA:254913
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Blindness, Hyaloid vascular remnant and retrolental ma...	ORPHA:91495
Pelizaeus-Merzbacher Disease	Abnormality of visual evoked potentials, Optic atrophy	ORPHA:702
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th...	OMIM:602782
Peho Syndrome	Undetectable visual evoked potentials, Optic atrophy	OMIM:260565
Attrv30M Amyloidosis	Cardiomegaly, Vitreous floaters, Cardiomyopathy, Impotence, Nephropathy, Abnormal renal physiology	ORPHA:85447
Joubert Syndrome 3	Pigmentary retinopathy, Retinal dystrophy	OMIM:608629
Omodysplasia 1	Short humerus, Ventricular septal defect, Rhizomelia, Increased fibular diameter, Micrognathia, L...	OMIM:258315
Acromelic Frontonasal Dysostosis	Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Cryptorchidism, Prea...	OMIM:603671
Birdshot Chorioretinopathy	Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters	OMIM:605808
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
Lowry-Wood Syndrome	Abnormality of retinal pigmentation	ORPHA:1824
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Nyctalopia, Abnormality of pattern visual evoked potentials, Heart murmur, Visual field defect, R...	ORPHA:166035
Coats Disease	Exudative retinal detachment, Retinal telangiectasia	OMIM:300216
Mohr-Tranebjaerg Syndrome	Abnormality of visual evoked potentials, Absent brainstem auditory responses, Optic atrophy, Abno...	ORPHA:52368
Orofaciodigital Syndrome Ix	Toe syndactyly, Hand polydactyly, Retinal coloboma, Camptodactyly, Short tibia	OMIM:258865
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Ago...	ORPHA:983
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Madras Motor Neuron Disease	Reduced visual acuity, Optic atrophy, Facial palsy, Visual impairment	ORPHA:137867
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis, Hepatomegaly	OMIM:606445
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Septate vagina, Micrognathia, Postaxial polydactyly, Complete atrioventricula...	OMIM:617925
Xq12-Q13.3 Duplication Syndrome	Abnormality of visual evoked potentials, Optic disc pallor	ORPHA:314389
Micro Syndrome	Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy, Reti...	ORPHA:2510
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Undetectable visual evoked potentials, Chorioretinal coloboma	ORPHA:163961
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Pigmentary retinopathy, Mottled pigmentation of photoexposed areas	OMIM:560000
Kennedy Disease	Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction	ORPHA:481
Norrie Disease	Retinal detachment, Blindness, Optic atrophy, Retinal dysplasia, Retinal fold	OMIM:310600
Stuve-Wiedemann Syndrome 1	Micrognathia, Femoral bowing, Knee flexion contracture, Tibial bowing, Short tibia, Short phalanx...	OMIM:601559
Intermediate Uveitis	Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, Vasculitis, Reduced visual a...	ORPHA:279914
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Blindness, Decreased nerve conduction velocity, V...	ORPHA:206443
Oculocutaneous Albinism Type 1A	Hypoplasia of the fovea, Ocular albinism, Abnormal optic nerve morphology, Abnormality of visual ...	ORPHA:79431
Infantile Neuroaxonal Dystrophy	Blindness, Optic atrophy, Abnormal autonomic nervous system physiology, Abnormality of visual evo...	ORPHA:35069
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Reduced visual acuity, Optic disc pallor, Rod-cone dystrophy, Macular atrophy	OMIM:615434
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy, Reduced visual acuity	OMIM:616722
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Blindness, Decreased nerve conduction velocity, V...	ORPHA:206436
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Albers-Schönberg Osteopetrosis	Blindness, Optic atrophy, Facial palsy, Visual impairment	ORPHA:53
Immunodeficiency 102	Hepatomegaly, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, ...	OMIM:301082
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Blindness, Myopia, Optic nerve hypoplasia, Optic atrophy, Cardiomyopathy	ORPHA:370959
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l...	ORPHA:158057
Abetalipoproteinemia	Retinopathy, Retinal degeneration	OMIM:200100
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Leukocytosis, Sp...	OMIM:603903
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropenia, Monocytopeni...	OMIM:614172
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:618261
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Acromesomelic Dysplasia 3	Short phalanx of finger, Hypoplasia of the ulna, Elevated circulating luteinizing hormone level, ...	OMIM:609441
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Peripheral retinal avascularization, External genital hypoplasia, Micrognathia, Tibial bowing, Hy...	ORPHA:96334
Spinocerebellar Ataxia Type 1	Abnormal nerve conduction velocity, Abnormal flash visual evoked potentials, Optic atrophy, Abnor...	ORPHA:98755
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Abnormality of visual evoked potentials, Optic atrophy	OMIM:616875
Mulibrey Nanism	Pigmentary retinopathy	OMIM:253250
Aarskog-Scott Syndrome	Short palm, Hyperextensibility of the finger joints, Syndactyly, Pes planus, Elevated circulating...	OMIM:305400
Macrophthalmia, Colobomatous, With Microcornea	Myopia, Macular atrophy, Optic disc coloboma, Reduced visual acuity, Chorioretinal coloboma	OMIM:602499
Achalasia-Addisonianism-Alacrima Syndrome	Abnormality of visual evoked potentials, Orthostatic hypotension, Optic atrophy, Abnormal autonom...	OMIM:231550
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Abnormal metacarpophalangeal joint morphology, Diabetes mellitus, Hypogonadotropic ...	ORPHA:465508
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Optic atrophy, Abnormality of peripheral nerve conduction	ORPHA:585
Cohen Syndrome	Myopia, Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Bull's eye maculopathy,...	OMIM:216550
Joubert Syndrome 6	Blindness, Retinal degeneration, Chorioretinal coloboma	OMIM:610688
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Nyctalopia	OMIM:277350
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance	OMIM:307500
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the thyroid gland, Abnormal...	ORPHA:3344
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f...	OMIM:618652
Xeroderma Pigmentosum, Complementation Group B	Cerebellar atrophy, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy, F...	OMIM:610651
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Nyctalopia, Optic atrophy	ORPHA:99947
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Blindness, Retinal dystrophy	ORPHA:713
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Central retinal vessel vascular tortu...	ORPHA:2751
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Myopia, Angina pectoris, Cerebral hemorrhage, Reduced visual acuity,...	OMIM:177850
Autosomal Recessive Spastic Paraplegia Type 44	Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Abnormality of soma...	ORPHA:320401
Pantothenate Kinase-Associated Neurodegeneration	Blindness, Bull's eye maculopathy, Nyctalopia, Optic atrophy, Peripheral visual field loss, Visua...	ORPHA:157850
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Adrenal insuffic...	OMIM:609981
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling	OMIM:617102
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Abnormality of visual evoked potentials, Optic atrophy	ORPHA:480898
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Joubert Syndrome 35	Nyctalopia, Rod-cone dystrophy, Progressive visual loss	OMIM:618161
Cancer-Associated Retinopathy	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Constriction of periphera...	ORPHA:71505
Lethal Ataxia With Deafness And Optic Atrophy	Decreased motor nerve conduction velocity, Blindness, Optic atrophy, Visual impairment, Abnormali...	ORPHA:1187
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Retinal pigment epithelial mottling	OMIM:614105
Omodysplasia 2	Dyspareunia, Short humerus, Hypospadias, Micrognathia, Cryptorchidism, Uterus didelphys, Fibular ...	OMIM:164745
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Microphthalmia, Isolated 8	Retinal detachment, Retinal coloboma, Optic nerve hypoplasia, Hypoplastic optic chiasm	OMIM:615113
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Pes cavus, Hypogonadotropic hypogonadism,...	OMIM:308750
Stickler Syndrome, Type I	Retinal detachment, Myopia, Blindness, Vitreoretinopathy, Membranous vitreous appearance, Retinal...	OMIM:108300
Metachromatic Leukodystrophy, Late Infantile Form	Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials	ORPHA:309256
Alstrom Syndrome	Cone/cone-rod dystrophy, Blindness, Constriction of peripheral visual field, Visual loss, Congest...	OMIM:203800
Fuchs Heterochromic Iridocyclitis	Papilledema, Optic disc pallor, Retinal perforation, Vitreous floaters, Epiretinal membrane, Redu...	ORPHA:263479
Mpdu1-Cdg	Undetectable visual evoked potentials, Optic atrophy	ORPHA:79323
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:2235
Microcephaly-Micromelia Syndrome	Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For...	OMIM:251230
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Confusion, Cardiomegaly, Cardiomyopathy, Recurrent hypoglyce...	OMIM:212140
Congenital Bile Acid Synthesis Defect Type 4	Pigmentary retinopathy	ORPHA:79095
Cach Syndrome	Optic neuritis, Blindness, Optic atrophy	ORPHA:135
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Melanocytic nevus, Generalized ...	ORPHA:1969
Isolated Anencephaly	Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes	ORPHA:563609
Lowry-Wood Syndrome	Pigmentary retinopathy	OMIM:226960
Infantile Neuronal Ceroid Lipofuscinosis	Visual loss, Blindness, Progressive visual field defects	ORPHA:79263
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short femur, Ventricular septal defect, Hypospadias, Fractured radius, Cardiomegaly, Micrognathia...	OMIM:616897
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha...	OMIM:268305
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Optic atrophy, Pigmentary retinopathy	OMIM:617282
Metachromatic Leukodystrophy, Juvenile Form	Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials	ORPHA:309263
Coloboma, Ocular, Autosomal Recessive	Optic disc coloboma, Retinal coloboma, Reduced visual acuity	OMIM:216820
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Progressive neurologic deterioration, Cardiomegaly, Heparan sulfate excretion in ur...	OMIM:252920
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Hallux valgus, Dislocation of toes, Congenital hip dislocation, Left atr...	OMIM:300280
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Myopia, Nyctalopia, High myopia, Hypertension, Rod-cone dystrophy	OMIM:617763
Tay-Sachs Disease	Cherry red spot of the macula, Blindness	OMIM:272800
Hermansky-Pudlak Syndrome 1	Blindness, Epistaxis, Ocular albinism, Photophobia, Hematochezia, Cardiomyopathy, Severely reduce...	OMIM:203300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Pigmentary retinopathy, Optic atrophy, Retinal dysplasia	OMIM:613154
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Syndactyly, Toe syndactyly, Clinodactyly of the 5th finger, Amelia, Testicular atrophy	OMIM:601163
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Sclerosis of middle...	ORPHA:85188
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Micrognathia, Cardiomegaly, Femoral bowing, Short lo...	OMIM:617022
Bardet-Biedl Syndrome	Pigmentary retinopathy	ORPHA:110
Proteus-Like Syndrome	Retinal detachment, Thymus hyperplasia, Genu recurvatum, Lower limb asymmetry, Splenomegaly, Abno...	ORPHA:2969
Hermansky-Pudlak Syndrome 6	Epistaxis, Amblyopia, Ocular albinism, Reduced visual acuity, Absent foveal reflex, Photophobia, ...	OMIM:614075
Alpers-Huttenlocher Syndrome	Abnormality of vision, Blindness	ORPHA:726
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Gastrointestinal hemorrhage, Abnormal retinal vascular morphology, Rayn...	ORPHA:247691
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Myopia, Chorioretinal dysplasia, Chorioretinal lacunae, Optic atrophy, Reduce...	OMIM:152950
Optic Atrophy-Intellectual Disability Syndrome	Myopia, Optic disc hypoplasia, Optic nerve hypoplasia, Cerebral visual impairment, Amblyopia, Opt...	ORPHA:401777
Cantu Syndrome	Bicuspid aortic valve, Broad hallux, Short hallux, Cardiomegaly, Pericardial effusion, Coxa valga...	OMIM:239850
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Hypoglycemia, Anemia, Cardiomegaly	OMIM:618838
Immunoneurologic Disorder, X-Linked	Nyctalopia	OMIM:300076
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Myopia, Retinal neovascularization	OMIM:619074
Osteopetrosis, Autosomal Recessive 2	Cranial nerve compression, Facial paralysis, Optic atrophy, Blindness	OMIM:259710
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pigmentary retinopathy	OMIM:600462
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph...	ORPHA:331206
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Abnormal thumb morphology, Abnormal atrioventricular valve morphology, Mitral valve...	ORPHA:324410
Acquired Partial Lipodystrophy	Insulin resistance, Microscopic hematuria, Proteinuria, Lymphocytosis	ORPHA:79087
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Conjunctival telangiectasia, Blindness, Optic atrophy	ORPHA:95433
Joubert Syndrome With Oculorenal Defect	Blindness, Aganglionic megacolon, Retinal dystrophy, Chorioretinal coloboma, Visual impairment	ORPHA:2318
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Calf muscle hypertrophy, Testicular atrophy, Decreased fertility	OMIM:313200
Eiken Syndrome	Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m...	ORPHA:79106
Kearns-Sayre Syndrome	Pigmentary retinopathy	OMIM:530000
Hermansky-Pudlak Syndrome 4	Hypoplasia of the fovea, Epistaxis, Ocular albinism, Reduced visual acuity	OMIM:614073
Ectodermal Dysplasia-Syndactyly Syndrome 2	Syndactyly, Palmoplantar keratoderma, Cardiomegaly	OMIM:613576
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ...	ORPHA:85167
Senior-Loken Syndrome 8	Retinal dystrophy, Macular atrophy, Reduced visual acuity, Rod-cone dystrophy, Visual impairment	OMIM:616307
Combined Oxidative Phosphorylation Deficiency 10	Hypoglycemia, Cardiomegaly, Pericardial effusion, Optic atrophy, Hypertrophic cardiomyopathy	OMIM:614702
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulde...	OMIM:274000
Microphthalmia With Limb Anomalies	Toe syndactyly, Unilateral cryptorchidism, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous ...	OMIM:206920
Cinca Syndrome	Retrobulbar optic neuritis, Blindness, Pseudopapilledema, Visual impairment	ORPHA:1451
Cranioectodermal Dysplasia 4	Nyctalopia, Rod-cone dystrophy, Hypermetropia, Visual impairment	OMIM:614378
Spastic Paraplegia 15, Autosomal Recessive	Macular degeneration, Visual impairment, Reduced visual acuity, Retinal degeneration	OMIM:270700
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c...	OMIM:120200
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinem...	OMIM:262190
Severe X-Linked Intellectual Disability, Gustavson Type	Blindness, Optic atrophy	ORPHA:3078
X-Linked Immunoneurologic Disorder	Nyctalopia	ORPHA:2571
Osteopetrosis, Autosomal Recessive 1	Blindness, Facial palsy, Optic atrophy, Facial paralysis, Visual impairment	OMIM:259700
Hydrolethalus Syndrome 1	Accessory spleen, Hypospadias, Ventricular septal defect, Bifid uterus, Micrognathia, Complete at...	OMIM:236680
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Nyctalopia, Retinal degeneration	OMIM:615630
Aniridia 2	Optic atrophy, Amblyopia	OMIM:617141
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Nyctalopia	ORPHA:79301
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Congenital hypothyroidism	ORPHA:88643
Ectopia Lentis Et Pupillae	Retinal detachment	OMIM:225200
Mitochondrial Complex I Deficiency, Nuclear Type 4	Blindness	OMIM:618225
Microphthalmia, Isolated, With Coloboma 9	Reduced visual acuity, Retinal detachment, Macular coloboma, Visual impairment	OMIM:615145
Pseudo-Torch Syndrome 3	Proteinuria, Cardiomegaly, Lymphadenitis, Leukocytosis, Acute kidney injury, Congenital thrombocy...	OMIM:618886
Spinocerebellar Ataxia, Autosomal Recessive 3	Blindness	OMIM:271250
Neuromuscular Oculoauditory Syndrome	Decreased nerve conduction velocity, Chorioretinal lacunae, Retinal pigment epithelial mottling, ...	OMIM:618733
Megalocornea	Retinal detachment, Reduced visual acuity	OMIM:309300
Mitochondrial Complex I Deficiency, Nuclear Type 36	Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Musk, Inability To Smell	Blindness	OMIM:254150
Prolidase Deficiency	Abnormality of retinal pigmentation, White forelock	ORPHA:742
Myopia 23, Autosomal Recessive	Reduced visual acuity, Visual impairment, High myopia	OMIM:615431
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy	OMIM:609015
Bardet-Biedl Syndrome 20	Papilledema, Constriction of peripheral visual field, Nyctalopia, Hypermetropia, Hemeralopia, Ret...	OMIM:619471
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Central scotoma, Blindness, Optic atrophy, Visual impairment	ORPHA:543470
Mody	Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu...	ORPHA:552
Immunodeficiency 68	Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count	OMIM:612260
Aceruloplasminemia	Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration	ORPHA:48818
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Xfe Progeroid Syndrome	Blindness, Optic atrophy, Hypertension, Visual impairment, Attenuation of retinal blood vessels	OMIM:610965
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Mogs-Cdg	Atrial septal defect, Hepatomegaly, External genital hypoplasia, Cardiomegaly, Optic atrophy, Hep...	ORPHA:79330
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Blindness, Optic atrophy, High myopia	OMIM:220500
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Iliac crest serration, Micromelia, Cardiomegaly, Wide distal femoral metaphysis, Delayed epiphyse...	OMIM:613320
Microphthalmia-Brain Atrophy Syndrome	Blindness	ORPHA:77299
Peroxisome Biogenesis Disorder 2A (Zellweger)	Brushfield spots, Pigmentary retinopathy, Optic nerve dysplasia	OMIM:214110
Momo Syndrome	Blindness, Retinal coloboma	OMIM:157980
Non-24-Hour Sleep-Wake Syndrome	Blindness	ORPHA:73267
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Decreased nerve conduction velocity, Abnormality of visual evoked potentials	ORPHA:1933
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Absence of lymph node germinal center, Thr...	ORPHA:79124
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Abnormality of visual evoked potentials, Cerebral visual impairment	ORPHA:1389
Mucopolysaccharidosis, Type Ii	Neurodegeneration, Papilledema, Abnormality of retinal pigmentation	OMIM:309900
Macrophage Activation Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Abnormal natu...	ORPHA:158061
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia	OMIM:615214
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Blindness	OMIM:204850
Craniosynostosis With Fibular Aplasia	Cryptorchidism, Fibular aplasia	OMIM:218550
Antiphospholipid Syndrome, Familial	Retinal vasculitis, Retinal detachment, Vitritis, Central retinal artery occlusion	OMIM:107320
Aica-Ribosuria Due To Atic Deficiency	Congenital blindness, Optic atrophy	OMIM:608688
Seckel Syndrome 1	11 pairs of ribs, Pes planus, Pancytopenia, Ivory epiphyses, Hypospadias, Abnormal finger flexion...	OMIM:210600
Hermansky-Pudlak Syndrome 7	Epistaxis, Ocular albinism, Reduced visual acuity, Visual impairment	OMIM:614076
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Pigmentary retinopathy, Optic atrophy	ORPHA:436271
Bardet-Biedl Syndrome 1	Myopia, Bone spicule pigmentation of the retina, Retinal dystrophy, Aganglionic megacolon, Hypera...	OMIM:209900
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Blindness	OMIM:250940
Timothy Syndrome	Ventricular septal defect, Hypoglycemia, Cardiomegaly, Hypothyroidism, Cutaneous syndactyly, Tetr...	OMIM:601005
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocytopenia	OMIM:616050
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Myopia, Retinal dystrophy, Chorioretinal...	ORPHA:2526
Atelosteogenesis Type Iii	Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han...	ORPHA:56305
Full Nf2-Related Schwannomatosis	Blindness, Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma...	ORPHA:637
Immunodeficiency 15B	Monocytosis, Reduced natural killer cell count	OMIM:615592
Gm1 Gangliosidosis	Blindness, Abnormal retinal vascular morphology, Congestive heart failure, Optic atrophy, Retinop...	ORPHA:354
Warburg Micro Syndrome 2	Undetectable visual evoked potentials, Optic atrophy	OMIM:614225
Metachromatic Leukodystrophy, Adult Form	Decreased nerve conduction velocity, Optic atrophy, Orthostatic hypotension due to autonomic dysf...	ORPHA:309271
Microcephaly 20, Primary, Autosomal Recessive	Blindness, Optic nerve hypoplasia	OMIM:617914
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Testicular atrophy, Bone marrow hypocellularity, Thrombocytopenia	OMIM:613987
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Hypoketotic hypoglycemia, Dilated cardiomyopathy, Cardiomegaly	OMIM:600649
Sandhoff Disease	Hepatomegaly, Urinary incontinence, Cardiomegaly, Progressive psychomotor deterioration, Hepatosp...	OMIM:268800
Cherubism	Constriction of peripheral visual field, Macular scar, Optic neuropathy, Reduced visual acuity, M...	OMIM:118400
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Pierson Syndrome	Retinal detachment, Blindness, Remnants of the hyaloid vascular system, Retinal hemorrhage, High ...	OMIM:609049
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Abnormality of visual e...	OMIM:601455
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Pigmentary retinopathy	ORPHA:502423
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Blindness	OMIM:618731
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Early ossification of capital femoral epiphyses, Renal cyst, Hypoplastic iliac wing, Short phalan...	OMIM:208500
Fetal And Neonatal Alloimmune Thrombocytopenia	Gastrointestinal hemorrhage, Blindness, Subarachnoid hemorrhage, Intracranial hemorrhage, Melena	ORPHA:853
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Nyctalopia, Peripheral visual field loss, Hypoautofluorescent retinal lesion, Rod-cone dystrophy,...	OMIM:250410
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy	OMIM:617675
Maternal Uniparental Disomy Of Chromosome 4	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	ORPHA:96180
Myopia 22, Autosomal Dominant	Reduced visual acuity, High myopia	OMIM:615420
Acromelic Frontonasal Dysplasia	Anterior pituitary hypoplasia, Cryptorchidism, Patellar hypoplasia, Talipes equinovarus, Preaxial...	ORPHA:1827
Autosomal Recessive Spastic Paraplegia Type 11	Orthostatic hypotension, Abnormality of pattern visual evoked potentials, Retinal degeneration	ORPHA:2822
Hermansky-Pudlak Syndrome 8	Hypoplasia of the fovea, Optic disc pallor, Myopia, Epistaxis, Moderate hypermetropia, Ocular alb...	OMIM:614077
Charge Syndrome	Decreased response to growth hormone stimulation test, External genital hypoplasia, Micrognathia,...	OMIM:214800
Chromosome 6Pter-P24 Deletion Syndrome	Pigmentary retinopathy	OMIM:612582
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy, Vitiligo	OMIM:240300
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy	OMIM:220110
Hermansky-Pudlak Syndrome 11	Hypoplasia of the fovea, Epistaxis, Ocular albinism, Reduced visual acuity, Photophobia	OMIM:619172
Xq21 Microdeletion Syndrome	Abnormal chorioretinal morphology, Chorioretinal degeneration, Reticular pigmentary degeneration,...	ORPHA:1435
Hyperostosis Cranialis Interna	Reduced visual acuity, Optic atrophy, Facial palsy	OMIM:144755
Usher Syndrome Type 2	Myopia, Scotoma, Visual loss, Nyctalopia, Hemianopia	ORPHA:231178
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Mental deterioration, Cardiomegaly	OMIM:619051
Werner Syndrome	Premature graying of hair, Abnormality of retinal pigmentation, White forelock	ORPHA:902
Coffin-Lowry Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortical atrophy	ORPHA:192
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Familial Atrial Myxoma	Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Pedal edema, Bacterial endocarditis	ORPHA:615
Immunodeficiency 20	Reduced natural killer cell count	OMIM:615707
Cohen Syndrome	Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretinal dystrophy, O...	ORPHA:193
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Blindness	OMIM:236270
Bone Marrow Failure Syndrome 5	Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Anemia	OMIM:618165
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Overlapping fingers, Micropenis, Abnormal natural killer ce...	OMIM:615966
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, At...	OMIM:306955
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta...	OMIM:108720
Acquired Aneurysmal Subarachnoid Hemorrhage	Progressive neurologic deterioration, Leukocytosis, Cognitive impairment, Hyperglycemia, Left ven...	ORPHA:90065
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Micrognathia, Knee dislocation, Shoulder dislocation, Atrial...	OMIM:245600
Attrv122I Amyloidosis	Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R...	ORPHA:85451
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Absent nipple, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missin...	OMIM:200980
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Herpes Simplex Virus Stromal Keratitis	Blindness, Reduced visual acuity	ORPHA:137599
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Cardiomegaly, Mi...	ORPHA:3472
Congenital Microcoria	Blindness, Axial myopia, Nyctalopia, Photophobia, Hemeralopia, Visual impairment, Blurred vision	ORPHA:566
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Lymph node hypoplasia, Abnormal...	ORPHA:276
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing, Lung abscess, B lymphocytopenia, Reduced natural killer ce...	OMIM:241600
Abetalipoproteinemia	Abnormality of retinal pigmentation, Blindness, Scotoma, Congestive heart failure, Nyctalopia, Pr...	ORPHA:14
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Retinal calcificat...	ORPHA:790
Phocomelia, Schinzel Type	Hypoplasia of penis, Radial bowing, Bowing of the long bones, Talipes, Micromelia, Micrognathia, ...	ORPHA:2879
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Classic Homocystinuria	Retinal detachment, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:394
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Short fourth metatarsal, Brachydactyly, Cardiomegaly, Cryptorchidism, Clinodactyly ...	OMIM:618143
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Blindness, Retinal telangiectasia, Optic atrophy, Exudative retinopathy, Intestinal bleeding, Gas...	OMIM:612199
Beckwith-Wiedemann Syndrome	Hepatomegaly, Overgrowth of external genitalia, Adrenocortical cytomegaly, Neonatal hypoglycemia,...	OMIM:130650
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Hypoglycemia, Cardio...	ORPHA:42
Beck-Fahrner Syndrome	Pes planus, Ventricular septal defect, Cardiomegaly, Depression, Hip dysplasia, Attention deficit...	OMIM:618798
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Abno...	ORPHA:50
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Myopia, Retinal atrophy, Blindness, Optic nerve hypoplasia, Optic atrophy, Re...	OMIM:236670
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy	ORPHA:746
Isolated Complex I Deficiency	Hypertrophic cardiomyopathy, Optic disc pallor, Blindness, Optic neuropathy	ORPHA:2609
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Lymphocytosis, Hemoph...	OMIM:308240
Myopathy, Tubular Aggregate, 1	Nyctalopia	OMIM:160565
Alpha-N-Acetylgalactosaminidase Deficiency	Blindness	ORPHA:3137
Fucosidosis	Hepatomegaly, Absent/hypoplastic paranasal sinuses, Cardiomegaly, Coxa valga, Splenomegaly, Vacuo...	OMIM:230000
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Nonketotic hypoglycemia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Hypoglycemia, L...	OMIM:608836
Ramon Syndrome	Optic disc pallor, Pigmentary retinopathy	OMIM:266270
Amyloidosis, Hereditary, Transthyretin-Related	Urinary incontinence, Confusion, Cardiomegaly, Amyloid deposition in the vitreous humor, Cardiomy...	OMIM:105210
White-Sutton Syndrome	Myopia, Blindness, Optic atrophy, Hypermetropia, Rod-cone dystrophy, Visual impairment	ORPHA:468678
Pyruvate Dehydrogenase E1-Alpha Deficiency	Blindness	ORPHA:79243
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Renal tubular acidosis, Hypoketotic hypoglycemia	OMIM:255120
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Corneal neovascularization, Macular hypoplasia, Reduced visual acuity	ORPHA:2334
Ophthalmomandibulomelic Dysplasia	Blindness	ORPHA:2741
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	ORPHA:71212
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Leukopenia, Glucose intolerance, Fasting hypoglycemia, Hyperglycemia, A...	ORPHA:2298
Posterior Polymorphous Corneal Dystrophy	Very low visual acuity, Chorioretinal degeneration, Amblyopia, Reduced visual acuity, Photophobia...	ORPHA:98973
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Depression, Increased...	OMIM:615954
Pgm3-Cdg	Hemolytic anemia, Brachydactyly, Membranoproliferative glomerulonephritis, Abnormal proportion of...	ORPHA:443811
Myotonic Dystrophy 1	Hypogonadism, Cholelithiasis, Testicular atrophy	OMIM:160900
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Ankle swelling, Leukocytosis, Cervical lymphadenopathy, Oliguria, Centr...	ORPHA:514
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia	ORPHA:99931
Immunodeficiency 85 And Autoimmunity	T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr...	OMIM:619510
Hermansky-Pudlak Syndrome 5	Hypoplasia of the fovea, Epistaxis, Ocular albinism, Reduced visual acuity	OMIM:614074
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of peripheral somatosensory evoked potentials, Abnormality of retinal pigmentation, C...	ORPHA:466768
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Immunodeficiency 57 With Autoinflammation	Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia	OMIM:618108
Osteopetrosis, Autosomal Recessive 9	Papilledema, Reduced visual acuity	OMIM:620366
Hydranencephaly	Blindness, Optic nerve hypoplasia, Chorioretinal atrophy, Abnormality of vision, Antenatal intrac...	ORPHA:2177
Fuchs Endothelial Corneal Dystrophy	Visual loss, Nyctalopia, Reduced visual acuity	ORPHA:98974
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Non-Functioning Pituitary Adenoma	Bitemporal hemianopia, Blindness, Diplopia, Hemianopia, Sudden loss of visual acuity, Heteronymou...	ORPHA:91349
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Hypermelanotic macule, Optic atrophy, Pigmentary retinopathy...	ORPHA:90321
Chromosome 8Q21.11 Deletion Syndrome	Pigmentary retinopathy	OMIM:614230
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Cardiomegaly	OMIM:619064
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Cardiomeg...	ORPHA:1517
Papillorenal Syndrome	Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio...	OMIM:120330
Autosomal Dominant Optic Atrophy And Cataract	Blindness, Red-green dyschromatopsia, Central scotoma, Optic atrophy, Reduced visual acuity, Trit...	ORPHA:67036
White-Sutton Syndrome	Abnormality of visual evoked potentials, Rod-cone dystrophy, Optic nerve hypoplasia	OMIM:616364
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla...	OMIM:227270
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Myopia, Epistaxis, Amblyopia, Ocular albinism, Photophobia, Cardiomy...	ORPHA:79430
Lesch-Nyhan Syndrome	Megaloblastic anemia, Hip dislocation, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Testic...	OMIM:300322
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl...	ORPHA:958
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ...	OMIM:119800
Wolcott-Rallison Syndrome	Hepatomegaly, Renal insufficiency, Metaphyseal dysplasia, Neonatal insulin-dependent diabetes mel...	ORPHA:1667
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Car...	OMIM:201475
Chédiak-Higashi Syndrome	Cerebellar atrophy, Abnormality of retinal pigmentation, Hypopigmentation of hair, Decreased nerv...	ORPHA:167
Mitochondrial Complex I Deficiency, Nuclear Type 1	Optic disc pallor, Blindness, Optic neuropathy, Concentric hypertrophic cardiomyopathy, Undetecta...	OMIM:252010
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagoc...	ORPHA:158048
Prolactinoma	Bitemporal hemianopia, Blindness, Diplopia, Hemianopia, Sudden loss of visual acuity, Heteronymou...	ORPHA:2965
Momo Syndrome	Blindness, Chorioretinal coloboma	ORPHA:2563
Neurodegeneration With Brain Iron Accumulation 1	Hyperpigmentation of the skin, Optic atrophy, Pigmentary retinopathy, Neurodegeneration, Cerebral...	OMIM:234200
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Blindness, Tricuspid regurgitation, Retinal dystrophy, Chori...	ORPHA:2556
Cryptococcosis	Blindness, Abnormal retinal morphology, Vitritis, Abnormality of vision, Abnormal optic nerve mor...	ORPHA:1546
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Albinism, Oculocutaneous, Type Ia	Hypoplasia of the fovea, Myopia, Ocular albinism, Reduced visual acuity, Photophobia, Visual impa...	OMIM:203100
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Talipes equinovarus, Neutropenia, Lymphopenia, Reduced natural killer cell count, Cutaneous abscess	OMIM:619752
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Gastrointestinal hemorrhage, Retinal detachment, Blindness, Myopia, Congestive heart failure, Art...	OMIM:225400
Behçet Disease	Aortic regurgitation, Gastrointestinal hemorrhage, Blindness, Pericarditis, Myocardial infarction...	ORPHA:117
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird...	ORPHA:1788
Mucopolysaccharidosis Type 3	Myopia, Blindness, Constriction of peripheral visual field, Nyctalopia, Optic atrophy, Atrioventr...	ORPHA:581
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p...	ORPHA:3427
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia, Arachnodactyly, Talipes equinovarus, Micrognathia	OMIM:619036
Sympathetic Ophthalmia	Retinal detachment, Papilledema, Vitreous floaters, Vitritis, Retinal hemorrhage, Reduced visual ...	ORPHA:79098
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg...	OMIM:618150
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Macular coloboma, Atrophy of the spinal cord, Optic atrophy, Cerebral atrophy, Pigmentary retinop...	ORPHA:79282
Ophthalmomandibulomelic Dysplasia	Blindness	OMIM:164900
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Blindness, Mitral regurgitation	OMIM:603387
Familial Renal Glucosuria	Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Renal tu...	ORPHA:69076
Peroxisome Biogenesis Disorder 1A (Zellweger)	Brushfield spots, Optic disc pallor, Cerebral cortical atrophy, Pigmentary retinopathy	OMIM:214100
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Ocular albin...	OMIM:608233
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Optic nerve hypoplasia, Unilateral renal agenesis, Abnormal T cell subset distribution, Clinodact...	ORPHA:221139
Mucolipidosis Ii Alpha/Beta	Cardiomegaly, Micrognathia, Metaphyseal widening, Hepatomegaly, Hypoplasia of the odontoid proces...	OMIM:252500
Tay-Sachs Disease	Cherry red spot of the macula, Blindness, Optic atrophy, Visual impairment	ORPHA:845
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Aplasia/hypoplasia of the extremities, Femoral bowing, Anteriorly displaced genita...	OMIM:276820
Occipital Horn Syndrome	Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h...	ORPHA:198
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pigmentary retinopathy, Cerebral cortical atrophy	OMIM:277400
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cerebellar atrophy, Brushfield spots, Optic nerve dysplasia, Optic atrophy, Pigmentary retinopath...	OMIM:614866
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega...	ORPHA:96191
Developmental And Epileptic Encephalopathy 3	Abnormality of visual evoked potentials	OMIM:609304
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg...	OMIM:618278
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Pedal edema, Abnormal heart morphology, Right ventricular di...	ORPHA:2041
Gm1 Gangliosidosis Type 1	Cherry red spot of the macula, Blindness, Cardiomyopathy	ORPHA:79255
Aica-Ribosiduria	Congenital blindness	ORPHA:250977
Campomelic Dysplasia	11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Male ...	ORPHA:140
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Optic atrophy, Depression, Cardiomyopathy, 3-Methylglutaconic aciduria	OMIM:619259
Joubert Syndrome 5	Congenital blindness, Rod-cone dystrophy, Retinal coloboma, Reduced visual acuity	OMIM:610188
Dysosteosclerosis	Blindness, Facial paralysis, Optic atrophy	OMIM:224300
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Optic atrophy, Brain atrophy	ORPHA:505248
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Progressive neurologic deterioration, Cardiomegaly, Micrognathia, Splenomegaly, Hep...	OMIM:608013
Aprosencephaly And Cerebellar Dysgenesis	Retinal dysplasia	OMIM:601374
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Clubbing, Pedal edema, Atrial septal defect, Pa...	ORPHA:439
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Adrenoleukodystrophy	Visual loss, Blindness	OMIM:300100
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Otopalatodigital Syndrome Type 2	Bowing of the long bones, Abnormal heart valve morphology, Hypospadias, Short hallux, Micrognathi...	ORPHA:90652
Tsh-Secreting Pituitary Adenoma	Bitemporal hemianopia, Blindness, Abnormal visual field test, Supraventricular arrhythmia, Conges...	ORPHA:91347
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Aganglionic megacolon, Myopia, Blindness, Optic atrophy	ORPHA:847
Fibrochondrogenesis 1	Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia...	OMIM:228520
Beckwith-Wiedemann Syndrome	Ureteral duplication, Cardiomegaly, Vesicoureteral reflux, Nephropathy, Hypothyroidism, Polycythe...	ORPHA:116
Cockayne Syndrome A	Retinal atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Retina...	OMIM:216400
Primary Hyperoxaluria	Optic disc pallor, Choroidal neovascularization, Heart block, Raynaud phenomenon, Arterial occlus...	ORPHA:416
Asparagine Synthetase Deficiency	Blindness, Optic nerve hypoplasia, Cerebral visual impairment	OMIM:615574
Cerebrooculonasal Syndrome	Blindness	ORPHA:66625
Ogden Syndrome	Congenital hip dislocation, Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atri...	OMIM:300855
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Hypoglycem...	OMIM:614921
Melas	Optic atrophy, Pigmentary retinopathy, Brain atrophy, Cerebral cortical atrophy, Vitiligo	ORPHA:550
Developmental Malformations-Deafness-Dystonia Syndrome	Blindness	ORPHA:79107
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Proteus Syndrome	Neoplasm of the thymus, Abnormal finger morphology, Renal cyst, Chorioretinal coloboma, Clinodact...	ORPHA:744
Arima Syndrome	Blindness, Retinal dystrophy, Optic atrophy, Hypertension, Chorioretinal coloboma	OMIM:243910
Osteoporosis-Pseudoglioma Syndrome	Blindness, Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Congenital blindness	OMIM:259770
Infantile Nephropathic Cystinosis	Pigmentary retinopathy	ORPHA:411629
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Tetralogy of Fallot, Ab...	ORPHA:3384
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiomegaly, Cardiomyopathy, Nephrotic syndrome, Left ventricular hypertrophy, Hyp...	OMIM:617713
Trisomy 18	Abnormality of retinal pigmentation	ORPHA:3380
Cogan Syndrome	Aortic regurgitation, Blindness, Vasculitis, Reduced visual acuity, Large vessel vasculitis, Phot...	ORPHA:1467
Mucopolysaccharidosis Type 2	Papilledema, Abnormality of retinal pigmentation, Large central visual field defect, Abnormal fov...	ORPHA:580
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Mitochondrial Dna-Associated Leigh Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	ORPHA:255210
Nijmegen Breakage Syndrome	Retinal pigment epithelial mottling, Cafe-au-lait spot, Neurodegeneration, Progressive vitiligo	OMIM:251260
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Renal tu...	ORPHA:228308
Cockayne Syndrome	Cerebellar atrophy, Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Reti...	ORPHA:191
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am...	OMIM:157640
Meningioma	Papilledema, Blindness, Bitemporal hemianopia, Facial palsy, Cerebral hemorrhage, Slow decrease i...	ORPHA:2495
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia	OMIM:243700
Cerebrotendinous Xanthomatosis	Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct...	ORPHA:909
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ...	ORPHA:363705
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Nyctalopia, Optic a...	ORPHA:217085
Pancreatic And Cerebellar Agenesis	Diabetes mellitus, Hypoglycemia, Optic nerve hypoplasia, Secundum atrial septal defect, Overlappi...	OMIM:609069
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Pineoblastoma	Papilledema, Progressive visual field defects, Reduced visual acuity, Retinoblastoma, Amaurosis f...	ORPHA:251909
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	T lymphocytopenia, Reduced natural killer cell count, Micrognathia	OMIM:242860
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Retinal pigment epithelial mottling, Atrophy/Degeneration involving the spinal cord	OMIM:607459
Campomelic Dysplasia	Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor...	OMIM:114290
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Cognitive impairm...	OMIM:300257
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Nyctalopia, Optic a...	ORPHA:217093
Rodrigues Blindness	Blindness	OMIM:268320
Cartilage-Hair Hypoplasia	Abnormality of retinal pigmentation, Aganglionic megacolon	ORPHA:175
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Hallux valgus, Pes planus, Ventricular septal defect, Left ventricular noncompaction cardiomyopat...	OMIM:300967
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation	OMIM:272460
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Hypopigmented skin patches, M...	ORPHA:636
Immunodeficiency 92	Hepatomegaly, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytope...	OMIM:619652
Lethal Acantholytic Erosive Disorder	Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cardiomyopathy, Clinodactyly of the 5...	ORPHA:158687
Cockayne Syndrome B	Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Optic atrophy, Pigmenta...	OMIM:133540
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Cerebellar atrophy, Optic atrophy, Cerebral atrophy, ...	ORPHA:404454
Ectodermal Dysplasia-Blindness Syndrome	Abnormality of vision, Blindness	ORPHA:1806
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Atrial...	OMIM:304120
Khan-Khan-Katsanis Syndrome	Pigmentary retinopathy	OMIM:618460
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity	OMIM:620133
Orofaciodigital Syndrome Type 4	Decreased testicular size, Finger syndactyly, Monorchism, Camptodactyly of finger, Micromelia, Mi...	ORPHA:2753
Bohring-Opitz Syndrome	Retinal atrophy, Cardiomegaly, Micrognathia, Optic atrophy, Abnormal cardiac septum morphology, U...	ORPHA:97297
Steinert Myotonic Dystrophy	Decreased response to growth hormone stimulation test, Non-medullary thyroid carcinoma, Male hypo...	ORPHA:273
Autoimmune Lymphoproliferative Syndrome	Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD...	ORPHA:3261
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Optic atrophy, Renal cyst, P...	ORPHA:137675
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Eosinophilia, Myocarditis, Thyroiditis, Lymphadenopathy, Tubulointerstitial ...	ORPHA:139402
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Micrognathia, Leukopenia, Aminoaciduria, Lymphocytosis, Atrial...	OMIM:619991
Hyper-Igd Syndrome	Optic disc pallor, Nyctalopia, Rod-cone dystrophy	OMIM:260920
Linear Skin Defects With Multiple Congenital Anomalies 1	Pigmentary retinopathy	OMIM:309801
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Abnormality of visual evoked potentials	OMIM:614457
Proteasome-Associated Autoinflammatory Syndrome 1	Hallux valgus, Hepatomegaly, Hypoplastic scapulae, Parotitis, Impaired glucose tolerance, Camptod...	OMIM:256040
Mucoepithelial Dysplasia, Hereditary	Photophobia, Blindness, Corneal neovascularization, Melena	OMIM:158310
Autosomal Recessive Malignant Osteopetrosis	Abnormality of visual evoked potentials, Optic nerve compression	ORPHA:667
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Macular edema, Re...	ORPHA:91500
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Arachnodactyly, Cardiomegaly, Thin metatarsal cortices, Slender long bone, Abnormal thymus morpho...	ORPHA:2463
Cystinosis, Nephropathic	Blindness, Retinal pigment epithelial mottling, Reduced visual acuity, Photophobia, Pigmentary re...	OMIM:219800
Weill-Marchesani Syndrome 1	Blindness, High myopia, Mitral regurgitation, Pulmonic stenosis, Aortic valve stenosis	OMIM:277600
Arterial Calcification, Generalized, Of Infancy, 2	Nephrocalcinosis, Right atrial enlargement, Cardiomegaly	OMIM:614473
Isolated Permanent Neonatal Diabetes Mellitus	Ketonuria, Neonatal insulin-dependent diabetes mellitus, Moderate albuminuria, Abnormal heart mor...	ORPHA:99885
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Micrognathia, Nephrocalcinosis, Atrial ...	ORPHA:904
Cln5 Disease	Abnormality of visual evoked potentials	ORPHA:228360
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Ulbright-Hodes Syndrome	Maternal diabetes, Micrognathia, Phocomelia, Abnormal penis morphology, Short metacarpal, Abnorma...	ORPHA:3404
Amoebiasis Due To Free-Living Amoebae	Blindness, Facial palsy, Visual loss, Diplopia, Photophobia, Arrhythmia	ORPHA:68
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp...	ORPHA:35078
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Blindness, Optic nerve dysplasia, Retinal dysplasia	OMIM:615287
Mccune-Albright Syndrome	Blindness	OMIM:174800
Tibial Hemimelia	Absent tibia	OMIM:275220
X-Linked Intellectual Disability, Snyder Type	Long toe, Hypospadias, Arachnodactyly, Ectopic kidney, Cryptorchidism, Slender toe, Abnormality o...	ORPHA:3063
Fucosidosis	Hepatomegaly, Mucopolysacchariduria, Hypothyroidism, Cardiomegaly	ORPHA:349
Axenfeld-Rieger Syndrome, Type 2	Blindness	OMIM:601499
Aicardi-Goutières Syndrome	Diabetes mellitus, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Chronic lymphatic leukemia...	ORPHA:51
Dermatoosteolysis, Kirghizian Type	Nyctalopia	ORPHA:1657
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Hypoplastic tricuspid valve, Diabetes mellitus, Double outlet left ventricle,...	OMIM:600001
Ruvalcaba Syndrome	Abnormality of visual evoked potentials	ORPHA:3121
Glycogen Storage Disease Of Heart, Lethal Congenital	Neonatal hypoglycemia, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content,...	OMIM:261740
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Limited knee flexion/extension, Pollakisuria, Calf muscle hypertrophy, Pes cavus, R...	ORPHA:268
Stickler Syndrome	Retinal detachment, Blindness, Myopia, Abnormal vitreous humor morphology, Arrhythmia, Visual imp...	ORPHA:828
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
X-Linked Cerebral Adrenoleukodystrophy	Blindness, Reduced visual acuity	ORPHA:139396
Gm2-Gangliosidosis, Ab Variant	Blindness	OMIM:272750
Cranioectodermal Dysplasia 1	Bicuspid aortic valve, Tubulointerstitial nephritis, Hepatomegaly, Rhizomelia, Short toe, Short r...	OMIM:218330
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Glycogen Storage Disease Ii	Hepatomegaly, Splenomegaly, Urinary incontinence, Cardiomegaly	OMIM:232300
Cirrhotic Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e...	ORPHA:57777
Weill-Marchesani Syndrome 2	Blindness, Congestive heart failure, High myopia, Mitral regurgitation, Pulmonic stenosis, Aortic...	OMIM:608328
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Nyctalopia, Constriction of peripheral visual field, Macular atrophy	OMIM:619418
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Senior-Loken Syndrome 3	Visual loss, Congenital blindness	OMIM:606995
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Abnormality of the knee, Hyperphosphaturia, Choroidal neovascularization...	ORPHA:51608
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Myopia, Cerebral hemorrhage, Amblyopia, Retinal arteriolar tortuosity, Retinal hemorrhage, Hyperm...	OMIM:175780
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Photophobia, Blindness	OMIM:148210
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Iron deficiency anemia, Lymphocytosis, Anoperineal fistula, Thrombocytosis, Red...	OMIM:301074
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hypospadias, Decreased response to growth hormone stimulation test, Ventricular septal defect, Mi...	ORPHA:444077
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Nyctalopia, Optic atrophy, Retinal dystrophy, Optic nerve hypoplasia	OMIM:619321
Dpagt1-Cdg	Prolonged QT interval, Nyctalopia, Optic atrophy, Intracranial hemorrhage, Diffuse optic disc pal...	ORPHA:86309
Atypical Werner Syndrome	Abnormality of retinal pigmentation, Patchy hypo- and hyperpigmentation, Premature graying of hai...	ORPHA:79474
Igg4-Related Dacryoadenitis And Sialadenitis	Blindness, Optic nerve compression, Abnormal optic nerve morphology	ORPHA:79078
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p...	OMIM:600802
Alagille Syndrome 1	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:118450
Pearson Syndrome	Pigmentary retinopathy, Cafe-au-lait spot, Hyperpigmentation of the skin	ORPHA:699
Webb-Dattani Syndrome	Blindness	OMIM:615926
Norrie Disease	Retinal detachment, Blindness, Abnormal chorioretinal morphology, Remnants of the hyaloid vascula...	ORPHA:649
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Visual loss, Blindness, Amblyopia	ORPHA:2250
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Cardiomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic cardio...	ORPHA:308552
Mucopolysaccharidosis, Type Iiid	Nyctalopia, Mitral regurgitation, Visual impairment, Asymmetric septal hypertrophy	OMIM:252940
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Abnormality of visual evoked potentials, Facial palsy	ORPHA:258
Plasminogen Deficiency, Type I	Blindness	OMIM:217090
Metachromatic Leukodystrophy	Decreased nerve conduction velocity, Abnormality of visual evoked potentials	ORPHA:512
17Q11 Microdeletion Syndrome	Blindness, Telangiectasia of the skin, Retinal vascular proliferation, Renovascular hypertension,...	ORPHA:97685
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Leber Congenital Amaurosis 7	Photophobia, Visual impairment	OMIM:613829
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Thrombocytopenia, Cervical lymphadenopathy, Splenomega...	ORPHA:50918
Leprosy	Epistaxis, Blindness, Abnormality of the seventh cranial nerve, Abnormal autonomic nervous system...	ORPHA:548
Osteopathia Striata With Cranial Sclerosis	Multicystic kidney dysplasia, Paranasal sinus hypoplasia, Ventricular septal defect, Arachnodacty...	OMIM:300373
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy	OMIM:617827
Corneodermatoosseous Syndrome	Photophobia, Nyctalopia, Hemeralopia	ORPHA:3194
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly	OMIM:208000
Hardikar Syndrome	Pigmentary retinopathy	OMIM:301068
Lipodystrophy, Familial Partial, Type 7	Pigmentary retinopathy, Orthostatic hypotension	OMIM:606721
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, T l...	OMIM:619381
Absence Of The Pulmonary Artery	Cardiomegaly, Pedal edema, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial ...	ORPHA:980
Singleton-Merten Syndrome 1	Mitral valve calcification, Hypoplastic distal radial epiphyses, Cardiomegaly, Coxa valga, Aortic...	OMIM:182250
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Cardiomegaly, Oligosacchariduria, Cognitive impairment, Left ventricular hypertroph...	ORPHA:365
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega...	ORPHA:75565
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Pes planus, Arachnodactyly, Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Sarcoidosis	Blindness, Abnormal cardiac ventricular function, Facial palsy, Portal hypertension, Heart block,...	ORPHA:797
Microphthalmia, Syndromic 6	Myopia, Blindness, Retinal dystrophy	OMIM:607932
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial...	ORPHA:1677
Wiedemann-Rautenstrauch Syndrome	Pigmentary retinopathy, Optic atrophy, Optic disc hypoplasia	ORPHA:3455
Renpenning Syndrome 1	Blindness, Hypermetropia	OMIM:309500
Hepatoerythropoietic Porphyria	Blindness	ORPHA:95159
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Fraser Syndrome 1	Blindness	OMIM:219000
Alström Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Blindness, Retinal pigment epithelial atrophy, Retina...	ORPHA:64
Congenital Erythropoietic Porphyria	Blindness	ORPHA:79277
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Photophobia, Visual loss, Blindness	ORPHA:95455
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Abnormality of visual evoked potentials	OMIM:203700
Menke-Hennekam Syndrome 1	Blindness, Hypermetropia	OMIM:618332
Fraser Syndrome	Blindness	ORPHA:2052
Microphthalmia, Syndromic 1	Blindness, Optic disc coloboma, Aganglionic megacolon, Chorioretinal coloboma	OMIM:309800

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 Crx

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 Crx.

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

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MGI Allele	Allele Type	Produced
Crx^{em1(IMPC)Ccpcz}	Exon Deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Crx MGI:1194883

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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Human diseases caused by Crx mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data