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Gene: Nr2e1 MGI:1100526

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

nuclear receptor subfamily 2, group E, member 1

Synonyms:

Nr2e1, Tlx, Mtll, tailless

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Nr2e1 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 Nr2e1 (0 diseases)
Human diseases predicted to be associated with Nr2e1 (1163 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Nr2e1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Retinitis Pigmentosa 42	Reduced visual acuity, Perifoveal ring of hyperautofluorescence, Peripapillary atrophy, Rod-cone ...	OMIM:612943
Sorsby Pseudoinflammatory Fundus Dystrophy	Blindness, Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Lar...	ORPHA:59181
Cone-Rod Dystrophy 7	Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy, Visual impairment, Color vision...	OMIM:603649
Macular Dystrophy, Retinal, 2	Retinal pigment epithelial atrophy, Central scotoma, Granular macular appearance, Reduced visual ...	OMIM:608051
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Scotoma, Chorioretinal degeneration, Visual loss,...	OMIM:605670
Macular Dystrophy, Retinal, 1, North Carolina Type	Peripheral retinal atrophy, Drusen, Central scotoma, Reduced visual acuity, Abnormality of macula...	OMIM:136550
Macular Degeneration, Age-Related, 13	Choroidal neovascularization, Macular scar, Drusen, Macular degeneration, Progressive visual loss	OMIM:615439
Stargardt Disease 3	Macular flecks, Macular atrophy, Reduced visual acuity, Macular dystrophy, Visual impairment	OMIM:600110
Leber Congenital Amaurosis 19	Optic disc pallor, Visual impairment, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy, Visual impairment	OMIM:613827
Macular Dystrophy, Patterned, 3	Reduced visual acuity, Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy	OMIM:617111
Doyne Honeycomb Retinal Dystrophy	Reticular pigmentary degeneration, Retinal dystrophy, Visual impairment	OMIM:126600
Macular Dystrophy, Retinal, 3	Macular drusen, Retinal pigment epithelial atrophy, Central scotoma, Reduced visual acuity, Color...	OMIM:608850
Macular Dystrophy, Vitelliform, 2	Reduced visual acuity, Subretinal fluid, Cystoid macular degeneration, Macular dystrophy, Visual ...	OMIM:153700
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Large central visual...	ORPHA:85128
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Blindness, Constriction of peripheral...	OMIM:600138
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Co...	OMIM:616544
Macular Degeneration, Early-Onset	Macular degeneration, Choroidal neovascularization, Reduced visual acuity	OMIM:616118
Best Vitelliform Macular Dystrophy	Metamorphopsia, Visual field defect, Cystoid macular degeneration, Choroideremia, Visual impairme...	ORPHA:1243
Macular Dystrophy, Patterned, 2	Drusen, Pattern dystrophy of the retina, Reduced visual acuity, Foveal hyperpigmentation	OMIM:608970
Bietti Crystalline Dystrophy	Blindness, Retinal pigment epithelial atrophy, Retinal thinning, Large central visual field defec...	ORPHA:41751
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Pericentral scotoma, Peripheral retinal degeneration,...	OMIM:609021
Stargardt Disease 4	Macular degeneration, Retinal flecks, Reduced visual acuity	OMIM:603786
Retinal Cone Dystrophy 1	Cone/cone-rod dystrophy, Bull's eye maculopathy, Photophobia, Progressive visual loss, Retinal de...	OMIM:180020
Retinitis Pigmentosa Inversa With Deafness	Blindness, Rod-cone dystrophy, Retinitis pigmentosa inversa	OMIM:268010
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Blindness, Macular ...	OMIM:613750
Retinitis Pigmentosa 70	Optic disc pallor, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Ma...	OMIM:615922
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ph...	OMIM:609913
Ceroid Lipofuscinosis, Neuronal, 6A	Progressive visual loss, Retinal degeneration	OMIM:601780
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Blindness, Nyctalopi...	OMIM:180210
Optic Atrophy 9	Optic disc pallor, Red-green dyschromatopsia, Optic atrophy, Reduced visual acuity, Paracentral s...	OMIM:616289
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Macular Degeneration, Atrophic, X-Linked	Macular degeneration, Reduced visual acuity	OMIM:300834
Macular Dystrophy, Vitelliform, 5	Moderately reduced visual acuity, Central scotoma, Reduced visual acuity, Vitelliform-like macula...	OMIM:616152
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Drusen, Reticular pigmentary degeneration, Retinal dystrophy	OMIM:267800
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Nyctalopia, Optic atrophy, Chorioretinal atrophy, Rod-co...	OMIM:607921
Retinitis Pigmentosa 29	Blindness, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:612165
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect, Retinal dysplasia	OMIM:615041
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Leber Congenital Amaurosis 12	Congenital blindness, Abnormality of macular pigmentation	OMIM:610612
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Reduced visual acu...	OMIM:612712
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Reduced visual acuity, Photophobia, Peripapillary atrophy, H...	OMIM:617879
Cone-Rod Dystrophy 22	Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ...	OMIM:619531
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:610359
Ophthalmoplegia, External, And Myopia	Myopia, Retinal degeneration, Spina bifida, Chorioretinal degeneration	OMIM:311000
Retinitis Pigmentosa 31	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Visual field defect, Attenuation of retin...	OMIM:609923
Choroideremia	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Chorioretinal d...	OMIM:303100
Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome	Severely reduced visual acuity, Rod-cone dystrophy	ORPHA:3011
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Myopia, Pericentral scotoma, Macular atrophy, Scotoma, N...	OMIM:620342
Ceroid Lipofuscinosis, Neuronal, 7	Blindness, Visual loss, Optic atrophy, Pigmentary retinopathy, Retinopathy	OMIM:610951
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Nyctalopia, R...	OMIM:614181
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
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Blindness, Macular atrophy, Nyctalopia, Progressive visu...	OMIM:617781
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Metamorphopsia, Choroidal neovascularization, Amblyopia, Retinal pigment...	ORPHA:97341
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	High hypermetropia, Retinal degeneration	OMIM:251700
Wagner Vitreoretinopathy	Myopia, Retinal pigment epithelial atrophy, Visual loss, Optically empty vitreous, Optic atrophy,...	OMIM:143200
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment...	OMIM:618889
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal thinnin...	OMIM:617123
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Central scotoma, Reduced visual acu...	OMIM:600977
Macular Dystrophy, Patterned, 1	Metamorphopsia, Choroidal neovascularization, Nyctalopia, Absent foveal reflex, Reduced visual ac...	OMIM:169150
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Optic disc pallor, Blindness, Macular atrophy, Nyctalopia, Reduced visua...	OMIM:604393
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:617871
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Retinopathy Of Prematurity	Tractional retinal detachment, Blindness, Retinal arteriolar tortuosity, Abnormal retinal vascula...	ORPHA:90050
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz...	OMIM:614500
Senior-Loken Syndrome 6	Rod-cone dystrophy, Reduced visual acuity, Visual impairment	OMIM:610189
Hyperleucine-Isoleucinemia	Retinal degeneration	OMIM:238340
Retinitis Pigmentosa 68	Bone spicule pigmentation of the retina, Retinal atrophy, Nyctalopia, Reduced visual acuity, Visu...	OMIM:615725
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Macular dystrophy, Blindness, Reduced visual acuity	OMIM:601553
Cone-Rod Dystrophy, X-Linked, 1	Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Nyctalopia, Redu...	OMIM:304020
Cone-Rod Dystrophy 13	Cone/cone-rod dystrophy, Reduced visual acuity, Photophobia, Macular degeneration, Visual impairm...	OMIM:608194
Retinitis Pigmentosa 38	Optic disc pallor, Constriction of peripheral visual field, Peripheral retinal atrophy, Macular a...	OMIM:613862
Macular Dystrophy, Vitelliform, 4	Drusen, Macular dystrophy, Vitelliform-like macular lesions, Moderately reduced visual acuity	OMIM:616151
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C...	OMIM:601718
Auditory Neuropathy And Optic Atrophy	Rod-cone dystrophy, Optic atrophy, Visual impairment	OMIM:617717
Usher Syndrome, Type Iv	Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field...	OMIM:618144
Macular Dystrophy, Vitelliform, 3	Metamorphopsia, Choroidal neovascularization, Macular atrophy, Drusen, Reduced visual acuity, Pho...	OMIM:608161
Retinitis Pigmentosa 47	Nyctalopia, Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Visual impairment	OMIM:613758
Achromatopsia	Hypoplasia of the fovea, Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial m...	ORPHA:49382
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H	Macular degeneration	OMIM:619764
Retinitis Pigmentosa 71	Optic disc pallor, Nyctalopia, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-c...	OMIM:616394
Leber Congenital Amaurosis 2	Optic disc pallor, Blindness, Fundus atrophy, Nyctalopia, Absent foveal reflex, Reduced visual ac...	OMIM:204100
Retinitis Pigmentosa 63	Optic disc pallor, Nyctalopia, Rod-cone dystrophy, Blurred vision	OMIM:614494
Cone-Rod Dystrophy 11	Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy, Slow decrease in visual acuity,...	OMIM:610381
Mental Retardation With Optic Atrophy, Deafness, And Seizures	Blindness, Optic atrophy, Severely reduced visual acuity	OMIM:309555
Atrophia Maculosa Varioliformis Cutis, Familial	Macular atrophy	OMIM:601341
Leber Hereditary Optic Neuropathy, Autosomal Recessive 1	Retinal telangiectasia, Retinal nerve fiber edema, Central scotoma, Central retinal vessel vascul...	OMIM:619382
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Constriction of peri...	OMIM:619007
Ceroid Lipofuscinosis, Neuronal, 3	Blindness, Optic atrophy, Reduced visual acuity, Macular degeneration, Progressive visual loss, R...	OMIM:204200
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Ceroid Lipofuscinosis, Neuronal, 2	Progressive visual loss, Retinal degeneration	OMIM:204500
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Myopia, Constriction of peripheral vi...	OMIM:180100
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 50	Retinal detachment, Optic disc pallor, Nyctalopia, Reduced visual acuity, Retinal flecks, Rod-con...	OMIM:613194
Retinitis Pigmentosa 54	Bone spicule pigmentation of the retina, Fundus atrophy, Nyctalopia, Rod-cone dystrophy, Visual i...	OMIM:613428
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:611040
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:617460
Macular Dystrophy, Vitelliform, 1	Reduced visual acuity, Visual field defect, Vitelliform-like macular lesions, Macular dystrophy, ...	OMIM:153840
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Optic Atrophy 13 With Retinal And Foveal Abnormalities	Optic atrophy, Reduced visual acuity, Attenuation of retinal blood vessels	OMIM:165510
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy	Optic disc pallor, Optic atrophy, Reduced visual acuity, Color vision defect	OMIM:618511
Retinitis Pigmentosa 35	Blindness, Rod-cone dystrophy, Reduced visual acuity, Nyctalopia	OMIM:610282
Cone-Rod Dystrophy 15	Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Nyctalopia, Photopho...	OMIM:613660
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Constriction of peripheral visual field, Macular atrophy, Nyctalopia, Hypermetropia, Cystoid macu...	OMIM:267760
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Nyctalopia, Rod-cone dystrophy, Visual impairment, Atten...	OMIM:614180
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Nyctalopia, Opt...	OMIM:600059
Spinocerebellar Ataxia, Autosomal Recessive 12	Optic atrophy, Retinal degeneration	OMIM:614322
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:613582
Retinal Dystrophy And Obesity	Retinal detachment, Myopia, Retinal pigment epithelial atrophy, Retinal dystrophy, Reduced visual...	OMIM:616188
Choroideremia	Abnormality of retinal pigmentation, Myopia, Nyctalopia, Abnormality of vision, Progressive visua...	ORPHA:180
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities	Optic disc pallor, Retinal dystrophy, Central scotoma, Nyctalopia, Reduced visual acuity, Photoph...	OMIM:616079
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:606068
Retinitis Pigmentosa 78	Optic disc pallor, Photopsia, Nyctalopia, Reduced visual acuity, Visual field defect, Cystoid mac...	OMIM:617433
Retinitis Pigmentosa 7	Constriction of peripheral visual field, Nyctalopia, Adult-onset night blindness, Chorioretinal a...	OMIM:608133
Newfoundland Rod-Cone Dystrophy	Retinal dystrophy, Scotoma, Nyctalopia, Visual impairment, Color vision defect	OMIM:607476
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Nyctalopia, Photophobia, Rod-cone dystrophy, Color visio...	OMIM:600852
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ma...	OMIM:618826
Bestrophinopathy, Autosomal Recessive	Hypermetropia, Retinal pigment epithelial atrophy, Reduced visual acuity, Retinal flecks	OMIM:611809
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinal pigment epithelial mottling, Blindness, Rod-cone dystrophy, Retinopathy	OMIM:551500
Cone-Rod Dystrophy 12	Cone/cone-rod dystrophy, Bull's eye maculopathy, Central scotoma, Nyctalopia, Reduced visual acui...	OMIM:612657
Cone-Rod Dystrophy 21	Retinal dystrophy, Macular atrophy, Nyctalopia, Reduced visual acuity, Photophobia	OMIM:616502
Ceroid Lipofuscinosis, Neuronal, 1	Blindness, Optic atrophy, Macular degeneration, Progressive visual loss, Retinal degeneration	OMIM:256730
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Retinal dystrophy, Peripheral retinal atrophy, Nyctalopia, Absent foveal reflex, Reduced visual a...	OMIM:615147
Retinitis Pigmentosa 20	Nyctalopia, Severely reduced visual acuity, Rod-cone dystrophy, Visual impairment, Attenuation of...	OMIM:613794
Cone Rod Dystrophy	Abnormality of retinal pigmentation, Nyctalopia, Photophobia, Visual impairment, Color vision defect	ORPHA:1872
X-Linked Neurodegenerative Syndrome, Bertini Type	Macular degeneration, Agenesis of corpus callosum	ORPHA:85334
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Macular atrophy...	OMIM:180104
Bothnia Retinal Dystrophy	Macular degeneration, Nyctalopia, Retinal dystrophy	OMIM:607475
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Nyctalopia, Visual ac...	OMIM:618220
Cone Dystrophy 3	Cone/cone-rod dystrophy, Macular atrophy, Reduced visual acuity, Photophobia, Progressive visual ...	OMIM:602093
Retinitis Pigmentosa 69	Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Pigmentary retinopath...	OMIM:615780
Achromatopsia 7	Hypoplasia of the fovea, Macular atrophy, Central scotoma, Absent foveal reflex, Reduced visual a...	OMIM:616517
Retinitis Pigmentosa 18	Scotoma, Nyctalopia, Progressive visual field defects, Retinal arteriolar constriction, Rod-cone ...	OMIM:601414
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Myopia, Retinal thinning, Nyctalopia, Reduced visual acuity,...	ORPHA:215
Morm Syndrome	Retinal atrophy, Retinal dystrophy, Photophobia, Progressive night blindness, Visual impairment	ORPHA:75858
Retinitis Pigmentosa 40	Nyctalopia, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal b...	OMIM:613801
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia, Vis...	ORPHA:1852
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Retinitis Pigmentosa 2	Pericentral scotoma, Myopia, Constriction of peripheral visual field, Ring scotoma, Bull's eye ma...	OMIM:312600
Macular Dystrophy, Retinal, 4	Reduced OCT-measured foveal thickness, Nyctalopia, Choroidal neovascularization, Reduced visual a...	OMIM:619977
Optic Atrophy 3, Autosomal Dominant	Reduced visual acuity, Optic disc pallor, Optic atrophy, Scotoma	OMIM:165300
Retinitis Pigmentosa 85	Progressive night blindness, Rod-cone dystrophy, Reduced visual acuity	OMIM:618345
Leber Congenital Amaurosis 1	Blindness, Fundus atrophy, Nyctalopia, Reduced visual acuity, Optic disc drusen, Photophobia, Pig...	OMIM:204000
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Reduced visual acuity, Chorioretinal dysplasia, Visual impairment	OMIM:616335
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:620102
Leber Congenital Amaurosis 14	Optic disc pallor, Retinal dystrophy, Nyctalopia, Reduced visual acuity, Photophobia, Congenital ...	OMIM:613341
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Ring scotoma, N...	OMIM:300029
Usher Syndrome, Type Iid	Nyctalopia, Rod-cone dystrophy	OMIM:611383
Tritanopia	Abnormal retinal morphology, Reduced visual acuity, Color vision test abnormality, Photophobia, T...	ORPHA:88629
Retinal Cone Dystrophy 3B	Cone/cone-rod dystrophy, Myopia, Scotoma, Macular atrophy, Nyctalopia, Reduced visual acuity, Pho...	OMIM:610356
Exudative Vitreoretinopathy 5	Reduced visual acuity, Exudative vitreoretinopathy, Falciform retinal fold, Visual impairment, Re...	OMIM:613310
Usher Syndrome, Type Iiia	Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Visual field defect	OMIM:276902
Retinal Capillary Malformation	Myopia, Blindness, Subretinal exudate, Central fundal arteriolar microaneurysms, Photopsia, Vitre...	ORPHA:71213
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Exudative Vitreoretinopathy 3	Retinal detachment, Reduced visual acuity, Retinal exudate, Exudative vitreoretinopathy, Retinal ...	OMIM:605750
Retinitis Pigmentosa 92	Constriction of peripheral visual field, Nyctalopia, Paracentral scotoma, Pigmentary retinopathy,...	OMIM:619614
Nephronophthisis 15	Blindness, Retinal degeneration	OMIM:614845
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Hi...	OMIM:600105
Cone-Rod Dystrophy, X-Linked, 3	Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Myopia, Central scotoma, Absent f...	OMIM:300476
Wolfram-Like Syndrome, Autosomal Dominant	Optic disc pallor, Blind-spot enlargment, Optic atrophy, Reduced visual acuity, Severely reduced ...	OMIM:614296
Oguchi Disease	Myopia, Mizuo phenomenon, Diplopia, Visual field defect, Macular degeneration, Congenital station...	ORPHA:75382
Bardet-Biedl Syndrome 16	Rod-cone dystrophy, Reduced visual acuity, Retinal degeneration	OMIM:615993
Birdshot Chorioretinopathy	Arcuate scotoma, Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroi...	ORPHA:179
Central Retinal Vein Occlusion	Papilledema, Large central visual field defect, Epiretinal membrane, Visual loss, Intraretinal he...	ORPHA:411527
Macular Degeneration, Age-Related, 1	Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg...	OMIM:603075
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Reduced visual acuity, Macular edema, Photo...	ORPHA:209943
Bardet-Biedl Syndrome 21	Cone/cone-rod dystrophy, Hypoplasia of the fovea, Myopia, Retinal atrophy, Retinal thinning, Blin...	OMIM:617406
Macular Dystrophy With Central Cone Involvement	Optic disc pallor, Bull's eye maculopathy, Central scotoma, Red-green dyschromatopsia, Reduced vi...	OMIM:616170
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Nyctalopia, Pigmentary retinopathy	OMIM:179840
Bardet-Biedl Syndrome 4	Nyctalopia, Rod-cone dystrophy, Retinal degeneration	OMIM:615982
Cone Dystrophy 4	Cone/cone-rod dystrophy, Reduced visual acuity, Absent foveal reflex, Photophobia, Dyschromatopsi...	OMIM:613093
Optic Atrophy 12	Optic disc pallor, Optic atrophy, Reduced visual acuity, Photophobia, Dyschromatopsia, Abnormal I...	OMIM:618977
Retinitis Pigmentosa	Constriction of peripheral visual field, Rod-cone dystrophy, Abnormality of fundus pigmentation, ...	OMIM:268000
Optic Pathway Glioma	Papilledema, Blindness, Visual loss, Hydrocephalus, Neurofibroma, Optic atrophy, Reduced visual a...	ORPHA:2086
Mucolipidosis Iv	Dysplastic corpus callosum, Optic atrophy, Photophobia, Retinal degeneration, Visual impairment	OMIM:252650
Canavan Disease	Abnormality of retinal pigmentation, Blindness, Optic atrophy, Abnormality of visual evoked poten...	ORPHA:141
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Constriction...	OMIM:615973
Prolonged Electroretinal Response Suppression 2	Mildly reduced visual acuity, Difficulty adjusting to changes in luminance, Reduced visual acuity...	OMIM:620344
Progressive Bifocal Chorioretinal Atrophy	Myopia, Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy, Visual impairment	ORPHA:75373
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Myopia, Blindness, Optic nerve hypoplasia, Hydrocephalus	OMIM:615181
Intellectual Developmental Disorder And Retinitis Pigmentosa	Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti...	OMIM:618195
Retinitis Pigmentosa 6	Constriction of peripheral visual field, Chorioretinal degeneration, Nyctalopia, Pigmentary retin...	OMIM:312612
Fleck Retina, Familial Benign	Nyctalopia, Retinal flecks, Visual impairment	OMIM:228980
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal thinnin...	OMIM:620228
Cavitary Optic Disc Anomalies	Nyctalopia, Peripapillary atrophy, Reduced visual acuity, Visual field defect	OMIM:611543
Usher Syndrome, Type 1M	Drusen, Optic disc pallor, Nyctalopia	OMIM:618632
Leber Congenital Amaurosis 16	Optic disc pallor, Nyctalopia, Reduced visual acuity, Visual field defect, Photophobia, Visual im...	OMIM:614186
Fundus Albipunctatus	Nyctalopia, Retinal flecks, Fundus albipunctatus	OMIM:136880
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Blindness, Optic atrophy	ORPHA:2787
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, N...	OMIM:616108
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Blue Cone Monochromacy	Blue cone monochromacy, Myopia, Reduced visual acuity, Photophobia, Abnormality of macular pigmen...	OMIM:303700
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa	Absent retinal pigment epithelium, Nyctalopia, Abnormal fundus morphology, Abnormal optic nerve m...	ORPHA:436274
Exudative Vitreoretinopathy 4	Blindness, Peripheral retinal avascularization, Reduced visual acuity, Posterior vitreous detachm...	OMIM:601813
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field...	OMIM:617304
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:180105
Optic Atrophy 5	Optic disc pallor, Constriction of peripheral visual field, Central scotoma, Abnormality of patte...	OMIM:610708
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l...	OMIM:612095
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Mildly reduced visual acuity, Vitreous floaters, Lattice retinal degeneration...	OMIM:614292
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Central scotoma, Nyctalopi...	ORPHA:52427
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l...	OMIM:613617
Narp Syndrome	Optic disc pallor, Abnormal visual field test, Blindness, Constriction of peripheral visual field...	ORPHA:644
Retinitis Pigmentosa 51	Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, High myopia, Photopho...	OMIM:613464
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Optic Atrophy 1	Central scotoma, Red-green dyschromatopsia, Optic atrophy, Reduced visual acuity, Abnormal amplit...	OMIM:165500
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Constriction of peripheral visual field, Retinal pigment epithelial mott...	OMIM:610478
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Myopia, Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate, Progressive...	OMIM:264420
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Blindness, Nyctalopia, Peripheral v...	OMIM:605549
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Myopia, Optic atrophy, Visual impairment	ORPHA:1574
Chorioretinal Atrophy, Progressive Bifocal	Retinal detachment, Chorioretinal dystrophy, Myopia, Chorioretinal atrophy, Visual impairment	OMIM:600790
Macular Degeneration, Age-Related, 3	Peripheral axonal neuropathy, Choroidal neovascularization, Drusen, Decreased nerve conduction ve...	OMIM:608895
Oliver-Mcfarlane Syndrome	Pigmentary retinopathy, Peripheral axonal neuropathy, Retinal degeneration	OMIM:275400
Cone-Rod Dystrophy 17	Cone/cone-rod dystrophy, Optic disc pallor, Central scotoma, Photophobia, Visual impairment	OMIM:615163
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration	OMIM:602271
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C...	OMIM:613983
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Pe...	OMIM:613756
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:615233
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Pigmentary retinopathy, Myopia, Retinal degeneration	ORPHA:3363
Exudative Vitreoretinopathy 1	Retinal detachment, Blindness, Peripheral retinal avascularization, Vitreous floaters, Reduced vi...	OMIM:133780
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Constriction of peripheral visual field, Retinal degeneration	OMIM:520000
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Retinal degeneration	OMIM:617173
Severe Early-Childhood-Onset Retinal Dystrophy	Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Photophobia, Retinal ...	ORPHA:364055
Acute Zonal Occult Outer Retinopathy	Blind-spot enlargment, Vitritis, Myopia, Retinal pigment epithelial mottling, Hemianopia, Rod-con...	ORPHA:284454
Night Blindness, Congenital Stationary, Type 1F	Retinal perforation, Nyctalopia, Reduced visual acuity, High myopia, Congenital stationary night ...	OMIM:615058
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Visual impairment	ORPHA:2246
Ceroid Lipofuscinosis, Neuronal, 5	Progressive visual loss, Retinal degeneration	OMIM:256731
Temporal Arteritis	Blindness, Retinal arteritis	OMIM:187360
Oculorenocerebellar Syndrome	Retinal degeneration	OMIM:257970
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:616469
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Nyctalopia, Retinal dystrophy, Reduced visual acuity	OMIM:610156
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia, Visual impairment	OMIM:613703
Late-Onset Retinal Degeneration	Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr...	ORPHA:67042
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Vitreous floate...	OMIM:618173
Retinitis Pigmentosa	Abnormality of retinal pigmentation, Blindness, Abnormal retinal vascular morphology, Optic atrop...	ORPHA:791
Krabbe Disease	Abnormal flash visual evoked potentials, Blindness, Decreased nerve conduction velocity, Hydrocep...	OMIM:245200
Chromosome Xq21 Deletion Syndrome	Constriction of peripheral visual field, Chorioretinal degeneration, Nyctalopia, Chorioretinal at...	OMIM:303110
Retinal Cone Dystrophy 3A	Cone dystrophy, Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Dyschromatopsia	OMIM:610024
Gyrate Atrophy Of Choroid And Retina	Myopia, Blindness, Nyctalopia, Foveoschisis, Chorioretinal atrophy, Macular thickening, Visual im...	OMIM:258870
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Macular coloboma, Macular atrophy, Abnormal auditory evoked potentials, Geogra...	OMIM:619260
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus callosum	OMIM:617542
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Retinal detachment, Congenital blindness	ORPHA:436182
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:602772
Night Blindness, Congenital Stationary, Type 1G	Optic disc pallor, Constriction of peripheral visual field, Congenital stationary night blindness...	OMIM:616389
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:600132
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:613581
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Retinopathy, Amblyopia	ORPHA:26
Spinocerebellar Ataxia 7	Macular degeneration, Optic atrophy, Pigmentary retinopathy, Progressive visual loss	OMIM:164500
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
Retinitis Pigmentosa 23	Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Mild myopia, Absent ...	OMIM:300424
Cone-Rod Dystrophy 18	Cone/cone-rod dystrophy, Central scotoma, Reduced visual acuity, High myopia, Foveal hyperpigment...	OMIM:615374
Gyrate Atrophy Of Choroid And Retina	Myopia, Blindness, Constriction of peripheral visual field, Chorioretinal degeneration, Chorioret...	ORPHA:414
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Blindness, Large hyperpigmented retina...	OMIM:193235
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Retinal dysplasia	OMIM:614830
Adult-Onset Foveomacular Vitelliform Dystrophy	Visual field defect, Retinal nonattachment, Abnormality of vision, Vitelliform-like macular lesio...	ORPHA:99000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus, Reduced visual acuity, Coloboma, Visual impairment, Agenesis of corpus callosum, R...	OMIM:615249
Usher Syndrome, Type Iiib	Optic disc pallor, Bull's eye maculopathy, Photophobia, Visual impairment, Attenuation of retinal...	OMIM:614504
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement	Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy...	OMIM:600638
Leber Congenital Amaurosis 15	Optic disc pallor, Myopia, Constriction of peripheral visual field, Nyctalopia, Reduced visual ac...	OMIM:613843
Hsd10 Mitochondrial Disease	Visual loss, Optic atrophy, Retinal degeneration	OMIM:300438
Bietti Crystalline Corneoretinal Dystrophy	Constriction of peripheral visual field, Chorioretinal atrophy, Reduced visual acuity, High myopi...	OMIM:210370
Spastic Paraplegia 11, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Macular degeneration, Retinal degeneratio...	OMIM:604360
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Coloboma, Occipital encephalocele, Hydrocephalus, Retinal dysplasia	ORPHA:324416
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Optic atrophy, Dandy-Walker malformation	ORPHA:1538
Retinitis Pigmentosa 26	Optic disc pallor, Constriction of peripheral visual field, Rod-cone dystrophy, Visual impairment...	OMIM:608380
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Photophobia, Optic disc pallor, Retinal thinning, Reduced visual acuity	OMIM:618970
Congenital Glaucoma	Visual loss, Retinal detachment	ORPHA:98976
Atypical Pantothenate Kinase-Associated Neurodegeneration	Retinopathy, Blindness, Optic atrophy	ORPHA:216873
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l...	OMIM:613810
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Rhegmatogenous retinal detachment, Lattice retinal degeneration	OMIM:619248
Nanophthalmos 4	Hypermetropia, Reduced visual acuity, Optic disc drusen	OMIM:615972
Poretti-Boltshauser Syndrome	Myopia, Retinal atrophy, Retinal thinning, Retinal dystrophy, Amblyopia	OMIM:615960
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Nyctalopia, Ch...	OMIM:601777
Vitreoretinochoroidopathy	Retinal detachment, Blindness, Nyctalopia, Retinal arteriolar occlusion, Vitreous hemorrhage, Pig...	OMIM:193220
Retinitis Pigmentosa 93	Rod-cone dystrophy, Constriction of peripheral visual field, Retinal dots, Reduced visual acuity	OMIM:619845
Retinitis Pigmentosa 37	Constriction of peripheral visual field, Red-green dyschromatopsia, Nyctalopia, Reduced visual ac...	OMIM:611131
Spastic Paraplegia 81, Autosomal Recessive	Retinal vascular tortuosity, Optic atrophy, Reduced visual acuity, Cerebral visual impairment	OMIM:618768
Bardet-Biedl Syndrome 5	Macular dystrophy, Rod-cone dystrophy, Reduced visual acuity	OMIM:615983
Spastic Paraplegia 82, Autosomal Recessive	Optic atrophy, Reduced visual acuity	OMIM:618770
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Reduced visual acuity, Retinal pigment epithelial mottling, Central retinal vessel vascular tortu...	ORPHA:506353
Optic Atrophy 6	Photophobia, Red-green dyschromatopsia, Optic atrophy, Visual impairment	OMIM:258500
Cone-Rod Dystrophy 10	Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Photophobia, M...	OMIM:610283
Sjogren-Larsson Syndrome	Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Reduced visual acuity, Ph...	OMIM:270200
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Macular atrophy, Partial agenesis of the corpus callosum, Optic atrophy, Retin...	OMIM:616171
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Short attention span, Postnatal growth retardation, Partial agenesis of the corpus callosum, Dela...	ORPHA:300570
Chromosome Xp11.3 Deletion Syndrome	Moderate myopia, Blindness, Constriction of peripheral visual field, Nyctalopia, Optic atrophy, P...	OMIM:300578
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Blindness, ...	OMIM:609033
Neovascular Glaucoma	Retinal detachment, Abnormal posterior eye segment morphology, Retinal vascular proliferation, Vi...	ORPHA:94058
Bardet-Biedl Syndrome 2	Rod-cone dystrophy, Retinal degeneration	OMIM:615981
Retinitis Pigmentosa 45	Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Macular degene...	OMIM:613767
Nephronophthisis 14	Retinal degeneration	OMIM:614844
Hypotrichosis With Juvenile Macular Degeneration	Macular degeneration, Blindness, Abnormality of macular pigmentation	ORPHA:1573
Sandhoff Disease	Cherry red spot of the macula, Blindness	ORPHA:796
Åland Islands Eye Disease	Hypoplasia of the fovea, Myopia, Difficulty adjusting from light to dark, Reduced visual acuity, ...	ORPHA:178333
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 With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Abnormal auditory evoked potentials, Red-green dyschromatopsia, Central scotoma, Optic atrophy, R...	OMIM:125250
Leber Congenital Amaurosis 8	Macular coloboma, Chorioretinal atrophy, Reduced visual acuity, Nummular pigmentation of the fund...	OMIM:613835
Early-Onset X-Linked Optic Atrophy	Optic disc pallor, Decreased nerve conduction velocity, Central scotoma, Optic atrophy, Reduced v...	ORPHA:98890
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Blindness, Reduced visual acuity, Abnormal optic disc morphology, Vitreoretinopathy, Retinal vasc...	ORPHA:440727
Retinitis Pigmentosa 59	Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Rod-cone dystrophy, C...	OMIM:613861
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Visual loss, Central scotoma,...	OMIM:604116
Cone-Rod Dystrophy 19	Cone/cone-rod dystrophy, Perifoveal ring of hyperautofluorescence, Reduced visual acuity, High my...	OMIM:615860
Chromosome 16Q12 Duplication Syndrome	Retinal pigment epithelial mottling, Nyctalopia, Reduced visual acuity, High myopia, Photophobia,...	OMIM:619649
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia, Deuteranopia, Amblyopia, High myopia...	OMIM:300843
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin...	OMIM:145350
Severe Canavan Disease	Blindness, Optic atrophy	ORPHA:314911
Optic Atrophy 8	Abnormal auditory evoked potentials, Visual loss, Central scotoma, Abnormality of pattern visual ...	OMIM:616648
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Nyctalopia, Rod-cone dystrophy, Visual impairment	OMIM:600151
Leber Congenital Amaurosis	Encephalocele, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Severely redu...	ORPHA:65
Blindness-Scoliosis-Arachnodactyly Syndrome	Visual loss, Retinal detachment, Blindness, Abnormality of retinal pigmentation	ORPHA:171844
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Blindness, Peripheral axonal neuropathy, Visual loss, Optic atrophy, Undetectable visual evoked p...	OMIM:601338
Oculocutaneous Albinism Type 6	Reduced visual acuity, Abnormal fundus morphology, Abnormal foveal morphology on macular OCT, Pho...	ORPHA:370097
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Cone-Rod Dystrophy And Hearing Loss 1	Retinal atrophy, Photophobia, Macular degeneration, Hemeralopia, Dyschromatopsia, Visual impairment	OMIM:617236
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Occipital encephalocele, Myopia, Blindness, Optic nerve hypoplasia, Hydroceph...	ORPHA:370959
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cone/cone-rod dystrophy, Visual loss, Optic atrophy, Retinal degeneration	OMIM:249270
3-Methylglutaconic Aciduria, Type Iii	Optic atrophy, Reduced visual acuity, Visual impairment	OMIM:258501
Developmental And Epileptic Encephalopathy 28	Optic atrophy, Retinal degeneration	OMIM:616211
Albinism, Oculocutaneous, Type Vi	Hypoplasia of the fovea, Photophobia, Reduced visual acuity, Visual impairment	OMIM:113750
Spastic Paraplegia 15, Autosomal Recessive	Peripheral axonal neuropathy, Reduced visual acuity, Macular degeneration, Retinal degeneration, ...	OMIM:270700
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Large central visual field defect, Blindness, Visual loss, Pigmentary retinopa...	ORPHA:79264
Sturge-Weber Syndrome	Retinal detachment, Blindness, Abnormal retinal vascular morphology, Hydrocephalus, Optic atrophy...	ORPHA:3205
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Myopia, Retinal atrophy, Retinal dystrophy, Amblyopia, Hypermetropia	ORPHA:370022
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus, Optic atrophy, Sensory axonal neuropathy, Nyctalopia	ORPHA:99947
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Constriction of peripheral visual field, Optic atrophy, Abno...	ORPHA:1215
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Nyctalopia, Myopia	ORPHA:1390
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Myopia, Patchy atrophy of the retinal pigment ...	OMIM:616468
Leg, Absence Deformity Of, With Congenital Cataract	Optic nerve dysplasia, Visual impairment	OMIM:246000
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Osteoporosis-Pseudoglioma Syndrome	Retinal detachment, Moderately reduced visual acuity, Visual acuity light perception with project...	ORPHA:2788
Behr Syndrome	Blindness, Optic atrophy, Hypoplastic optic chiasm, Progressive visual loss, Sensory axonal neuro...	OMIM:210000
Spastic Paraplegia 55, Autosomal Recessive	Peripheral axonal neuropathy, Central scotoma, Optic atrophy, Reduced visual acuity, Onion bulb f...	OMIM:615035
Retinitis Pigmentosa 75	Myopia, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Rod-co...	OMIM:617023
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hydrocephalus, Retinal degeneration, Nyctalopia	OMIM:615630
Retinitis Pigmentosa 89	Constriction of peripheral visual field, Retinal thinning, Nyctalopia, Hyperautofluorescent retin...	OMIM:618955
Retinal Dystrophy With Or Without Macular Staphyloma	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ...	OMIM:617547
Ceroid Lipofuscinosis, Neuronal, 10	Visual loss, Rod-cone dystrophy, Retinal atrophy, Sensory axonal neuropathy	OMIM:610127
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Retinal degeneration	OMIM:616896
Cln3 Disease	Blindness, Bull's eye maculopathy, Amblyopia, Optic atrophy, Pigmentary retinopathy, Progressive ...	ORPHA:228346
Sjögren-Larsson Syndrome	Myopia, Abnormality of retinal pigmentation, Photophobia, Macular degeneration, Retinopathy	ORPHA:816
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Reduced visual acuity, Retinal atrophy, Iris coloboma	OMIM:616722
Leukoencephalopathy With Vanishing White Matter 1	Blindness, Optic atrophy, Gliosis	OMIM:603896
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, Optic atrophy, Agenesis of corpus ca...	ORPHA:1528
Atypical Teratoid Rhabdoid Tumor	Irritability, Hydrocephalus	ORPHA:99966
Achromatopsia 2	Hypoplasia of the fovea, Retinal thinning, Nyctalopia, Absent foveal reflex, Reduced visual acuit...	OMIM:216900
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Constriction of peripheral visual field, Patchy atrophy of the retinal pigment epithelium, Undete...	ORPHA:436245
Albers-Schönberg Osteopetrosis	Blindness, Facial palsy, Hydrocephalus, Optic atrophy, Visual impairment	ORPHA:53
Idiopathic Panuveitis	Blindness, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, R...	ORPHA:280921
Sarcosinemia	Congenital blindness, Optic atrophy	ORPHA:3129
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Abnormality of retinal pigmentation, Myopia, Abnormal chorioretinal morphology, Visual loss, Nyct...	ORPHA:5
Scheie Syndrome	Retinal degeneration	OMIM:607016
Idiopathic Uveal Effusion Syndrome	Metamorphopsia, Reduced visual acuity, Subretinal fluid, Visual field defect, Exudative retinal d...	ORPHA:209956
Foveal Hypoplasia 2	Hypoplasia of the fovea, Reduced visual acuity, Foveal hyperpigmentation, Optic nerve misrouting	OMIM:609218
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Amblyopia	ORPHA:35737
Oculocutaneous Albinism, Type Viii	Hypoplasia of the fovea, Photophobia, Chorioretinal hypopigmentation, Reduced visual acuity	OMIM:619165
Congenital Muscular Dystrophy, Fukuyama Type	Myopia, Hydrocephalus, Optic atrophy, Retinal dysplasia, Visual impairment	ORPHA:272
Abetalipoproteinemia	Retinopathy, Peripheral demyelination, Retinal degeneration	OMIM:200100
Developmental And Epileptic Encephalopathy 36	Hydrocephalus, Flexion contracture, Optic atrophy	OMIM:300884
Night Blindness, Congenital Stationary, Type 1C	Congenital stationary night blindness, Myopia, Reduced visual acuity	OMIM:613216
Ataxia With Vitamin E Deficiency	Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Nyctalopia, Visual ...	ORPHA:96
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Blindness, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:216866
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Myopia, Retinal atrophy, Retinal pigment epithelial atrophy, Ring scotoma, Epi...	OMIM:616959
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Partial agenesis of the corpus callosum, Retinal dysplasia	OMIM:615771
Congenital Toxoplasmosis	Abnormality of retinal pigmentation, Failure to thrive in infancy, Hydrocephalus, Cognitive impai...	ORPHA:858
Retinitis Pigmentosa 46	Optic disc pallor, Constriction of peripheral visual field, Pigmentary retinopathy, Rod-cone dyst...	OMIM:612572
Joubert Syndrome With Oculorenal Defect	Encephalocele, Blindness, Aganglionic megacolon, Retinal dystrophy, Hydrocephalus, Chorioretinal ...	ORPHA:2318
Stickler Syndrome Type 2	Retinal detachment, Myopia, Retinopathy, Abnormal vitreous humor morphology	ORPHA:90654
Night Blindness, Congenital Stationary, Type 1E	Congenital stationary night blindness, Reduced visual acuity, Visual impairment, High myopia	OMIM:614565
Diencephalic Syndrome	Hydrocephalus, Optic atrophy, Cachexia, Decreased body weight	ORPHA:1672
Congenital Hydrocephalus	Hydrocephalus, Optic atrophy, Colpocephaly, Macular hypoplasia, Iris coloboma, Ventriculomegaly	ORPHA:2185
Wolfram Syndrome, Mitochondrial Form	Blindness, Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:598500
Pineocytoma	Memory impairment, Hydrocephalus, Increased CSF protein concentration, Cognitive impairment	ORPHA:251912
Enhanced S-Cone Syndrome	Nyctalopia, Macular edema, Hemeralopia, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis	OMIM:268100
Microphthalmia, Isolated 6	High hypermetropia, Retinal fold, Amblyopia	OMIM:613517
Refsum Disease, Classic	Nyctalopia, Rod-cone dystrophy, Retinal degeneration	OMIM:266500
Late Infantile Neuronal Ceroid Lipofuscinosis	Myopia, Blindness, Visual loss, Abnormal amplitude of flash visual evoked potentials, Reduced vis...	ORPHA:168491
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Moderately reduced visual acuity, Retinal coloboma, Chorioretinal coloboma, Severely reduced visu...	ORPHA:2921
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation	Absent retinal pigment epithelium, Reduced visual acuity, Visual impairment	OMIM:122430
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Optic atrophy, Chorioretinal coloboma, Iris coloboma, Visual impairment	ORPHA:1473
Macrophthalmia, Colobomatous, With Microcornea	Myopia, Macular atrophy, Optic disc coloboma, Reduced visual acuity, Chorioretinal coloboma, Iris...	OMIM:602499
Night Blindness, Congenital Stationary, Type 1B	Myopia, Bone spicule pigmentation of the retina, Nyctalopia, Hemeralopia, Congenital stationary n...	OMIM:257270
Oculocutaneous Albinism Type 1	Hypoplasia of the fovea, Amblyopia, Reduced visual acuity, Depigmented fundus, Photophobia, Abnor...	ORPHA:352731
Infantile Refsum Disease	Constriction of peripheral visual field, Facial palsy, Nyctalopia, Optic atrophy, Rod-cone dystro...	ORPHA:772
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Elbow flexion contracture, Hydrocephalus, Optic atrophy	OMIM:619470
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615986
Alg6-Cdg	Rod-cone dystrophy, Retinal degeneration	ORPHA:79320
Hsd10 Disease, Infantile Type	Blindness, Visual loss, Optic atrophy, Rod-cone dystrophy, Retinal degeneration	ORPHA:391428
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Hydrocephalus, Obesity, Hypogonadism, Retinal coloboma, Rod-cone dystrophy	OMIM:601794
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Visual impairm...	OMIM:615994
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus, Cognitive impairment	ORPHA:2807
Osteopetrosis, Autosomal Recessive 2	Blindness, Cranial nerve compression, Hydrocephalus, Optic atrophy, Facial paralysis	OMIM:259710
Birdshot Chorioretinopathy	Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitreous floaters, Vitriti...	OMIM:605808
Night Blindness, Congenital Stationary, Type 2A	Congenital stationary night blindness, Reduced visual acuity, Visual impairment	OMIM:300071
Joubert Syndrome 6	Blindness, Retinal degeneration, Chorioretinal coloboma	OMIM:610688
Non-Specific Early-Onset Epileptic Encephalopathy	Abnormality of vision, Optic atrophy, Retinal degeneration	ORPHA:442835
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Visual impairment, Patchy atrophy of the retinal pigment epi...	ORPHA:1433
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Ventriculomegaly	OMIM:604213
Peroxisome Biogenesis Disorder 9B	Constriction of peripheral visual field, Rod-cone dystrophy, Reduced visual acuity, Nyctalopia	OMIM:614879
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Photophobia, Visual impairment, Color vision ...	ORPHA:1873
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots	OMIM:193230
Joubert Syndrome 15	Retinopathy, Coloboma, Retinal dystrophy, Exencephaly	OMIM:614464
Canavan Disease	Blindness, Optic atrophy, Visual impairment	OMIM:271900
Renal Coloboma Syndrome	Myopia, Optic disc coloboma, Optic nerve dysplasia, Retinal coloboma, Visual impairment	ORPHA:1475
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Reduced visual acuity, Optic disc pallor, Rod-cone dystrophy, Macular atrophy	OMIM:615434
Fried Syndrome	Hydrocephalus, Abnormal optic nerve morphology	ORPHA:85335
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Decreased motor nerve conduction velocity, Optic disc pallor, Central scotoma, Optic atrophy, Slo...	OMIM:601152
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Retinal detachment, Short stature, Hydrocephalus, Optic atrophy, Irritability, Colpocephaly, Dist...	OMIM:619833
Leukoencephalopathy With Ataxia	Choroidal neovascularization, Optic neuropathy, Chorioretinal atrophy, Visual field defect, Retin...	OMIM:615651
Osteopetrosis, Autosomal Recessive 1	Blindness, Facial palsy, Hydrocephalus, Optic atrophy, Facial paralysis, Visual impairment	OMIM:259700
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Rod-cone dystrophy, Reduced visual acuity	OMIM:619082
Full Nf2-Related Schwannomatosis	Blindness, Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma...	ORPHA:637
Joubert Syndrome 16	Encephalocele, Coloboma, Retinal dystrophy	OMIM:614465
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Infantile Neuroaxonal Dystrophy	Blindness, Peripheral axonal neuropathy, Cerebellar gliosis, Optic atrophy, Diffuse axonal swelli...	ORPHA:35069
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Occipital encephalocele, Retinal atrophy, Myopia, Optic nerve hypoplasia, Bli...	OMIM:236670
Amaurosis-Hypertrichosis Syndrome	Cone/cone-rod dystrophy, Retinal dystrophy, Optic atrophy, Photophobia, High hypermetropia, Visua...	ORPHA:1021
Norrie Disease	Retinal detachment, Blindness, Optic atrophy, Retinal dysplasia, Retinal fold	OMIM:310600
Autosomal Recessive Spastic Paraplegia Type 11	Peripheral axonal neuropathy, Orthostatic hypotension, Abnormality of pattern visual evoked poten...	ORPHA:2822
Aceruloplasminemia	Retinal degeneration	OMIM:604290
Axial Spondylometaphyseal Dysplasia	Retinal dystrophy, Peripheral retinal degeneration, Amblyopia, Optic atrophy, Reduced visual acui...	ORPHA:168549
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Hydrocephalus, Coloboma, Dandy-Walker malformation, Agenesis of corpus callos...	OMIM:613153
Cancer-Associated Retinopathy	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Constriction of periphera...	ORPHA:71505
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Macular degeneration, Choroidal neovascularization	ORPHA:404451
Myopia 28, Autosomal Recessive	Retinal detachment, High myopia	OMIM:619781
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Nyctalopia, Abnormality of pattern visual evoked potentials, Visual field defect, Rod-cone dystro...	ORPHA:166035
Coloboma, Ocular, Autosomal Recessive	Reduced visual acuity, Optic disc coloboma, Retinal coloboma, Iris coloboma	OMIM:216820
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy, Blindness, Reduced visual acuity	ORPHA:3208
Methanol Poisoning	Blindness, Abnormal optic nerve morphology, Visual impairment, Blurred vision	ORPHA:31825
1Q21.1 Microduplication Syndrome	Cryptorchidism, Hydrocephalus, Attention deficit hyperactivity disorder, Arthrogryposis multiplex...	ORPHA:250994
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Cataract 21, Multiple Types	Retinal detachment, Macular hypoplasia, Iris coloboma, High myopia	OMIM:610202
Usher Syndrome	Abnormality of retinal pigmentation, Blindness, Myopia, Nyctalopia, Visual field defect, Progress...	ORPHA:886
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome	Optic disc pallor, Cerebral visual impairment, Optic atrophy, Reduced visual acuity, Visual field...	OMIM:615722
Multiple Sulfatase Deficiency	Hydrocephalus, Peripheral demyelination, Retinal degeneration	OMIM:272200
Cach Syndrome	Optic neuritis, Lateral ventricle dilatation, Optic atrophy, Blindness	ORPHA:135
Neurodegeneration With Brain Iron Accumulation 2A	Decreased nerve conduction velocity, Visual loss, Optic atrophy, Gliosis, Abnormality of visual e...	OMIM:256600
Pantothenate Kinase-Associated Neurodegeneration	Blindness, Bull's eye maculopathy, Nyctalopia, Optic atrophy, Peripheral visual field loss, Visua...	ORPHA:157850
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly, Attention deficit hyperactivity disorder	OMIM:618709
Juvenile Glaucoma	Optic neuropathy, Central scotoma, Peripheral visual field loss, High myopia, Retinal arterial oc...	ORPHA:98977
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Rhizomelia, Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
2,4-Dienoyl-Coa Reductase Deficiency	Hydrocephalus, Optic atrophy, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentra...	OMIM:616034
Cohen Syndrome	Myopia, Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Bull's eye maculopathy,...	OMIM:216550
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Abnormality of visual evoked potentials, Optic disc pallor, Abnormal auditory evoked potentials, ...	OMIM:617523
Lissencephaly 9 With Complex Brainstem Malformation	Short stature, Microcephaly, Hypoplastic anterior commissure, Lissencephaly, Hypoplasia of the co...	OMIM:618325
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Visual loss, Nyctalopia, Axonal degeneration, Pigmentary...	ORPHA:88628
Hypobetalipoproteinemia, Familial, 1	Rod-cone dystrophy, Retinal degeneration	OMIM:615558
Retinal Dystrophy With Or Without Extraocular Anomalies	Retinal dystrophy, Reduced visual acuity	OMIM:617175
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus, Optic atrophy, Short stature	OMIM:618174
Knobloch Syndrome	Retinal detachment, Occipital encephalocele, Myopia, Visual loss, Hydrocephalus, Abnormal vitreou...	ORPHA:1571
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Cerebral visual impairment, Visual loss, Central scotoma, Op...	ORPHA:52368
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Myopia 3, Autosomal Dominant	Retinal detachment, High myopia	OMIM:603221
Myopia 25, Autosomal Dominant	Retinal detachment, High myopia	OMIM:617238
Myopia 2, Autosomal Dominant	Retinal detachment, High myopia	OMIM:160700
Myopia 5, Autosomal Dominant	Retinal detachment, High myopia	OMIM:608474
Spinocerebellar Ataxia Type 7	Cone/cone-rod dystrophy, Blindness, Visual loss, Reduced visual acuity, Abnormal fundus morpholog...	ORPHA:94147
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Pigmentary retinopathy, Blindness	OMIM:560000
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Severe X-Linked Intellectual Disability, Gustavson Type	Lateral ventricle dilatation, Optic atrophy, Blindness	ORPHA:3078
Pyruvate Dehydrogenase E2 Deficiency	Peripheral visual field loss, Retinal degeneration	ORPHA:79244
Madras Motor Neuron Disease	Reduced visual acuity, Optic atrophy, Facial palsy, Visual impairment	ORPHA:137867
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Leptin Receptor Deficiency	Short stature, Obesity, Abnormal hypothalamus morphology, Delayed puberty, Emotional lability	OMIM:614963
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation, Hydrocephalus	ORPHA:397951
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus, Optic atrophy	ORPHA:352682
X-Linked Neurodegenerative Syndrome, Hamel Type	Blindness	ORPHA:85336
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Macular degeneration, Diplopia	ORPHA:284289
Refsum Disease	Abnormality of retinal pigmentation, Nyctalopia, Abnormality of vision, Progressive visual loss, ...	ORPHA:773
Retinitis Pigmentosa 74	Optic disc pallor, Constriction of peripheral visual field, Reduced visual acuity, Pigmentary ret...	OMIM:616562
Albinism, Oculocutaneous, Type Ii	Hypoplasia of the fovea, Myopia, Reduced visual acuity, Hypopigmentation of the fundus, Visual im...	OMIM:203200
Coach Syndrome 2	Coloboma, Hydrocephalus, Agenesis of corpus callosum, Chorioretinal coloboma	OMIM:619111
Cerebral Sclerosis, Diffuse, Scholz Type	Blindness	OMIM:302700
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Undetectable visual evoked potentials, Hydrocephalus, Chorioretinal coloboma	ORPHA:163961
Isolated Atp Synthase Deficiency	Blindness, Rod-cone dystrophy, Optic atrophy	ORPHA:254913
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Oculocutaneous Albinism Type 5	Hypoplasia of the fovea, Ocular albinism, Reduced visual acuity, Abnormal fundus morphology, Phot...	ORPHA:370091
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Blindness, Retinal dystrophy	ORPHA:713
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma, Iris coloboma	OMIM:212550
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Ocular albinism, Reduced visual acu...	ORPHA:79435
Senior-Loken Syndrome 9	Macular degeneration, Rod-cone dystrophy, Retinal dystrophy	OMIM:616629
Joubert Syndrome 35	Nyctalopia, Rod-cone dystrophy, Progressive visual loss	OMIM:618161
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Blindness, Hyaloid vascular remnant and retrolental ma...	ORPHA:91495
Joubert Syndrome 22	Coloboma, Retinal dysplasia	OMIM:615665
Stickler Syndrome, Type I	Retinal detachment, Myopia, Blindness, Vitreoretinopathy, Membranous vitreous appearance, Retinal...	OMIM:108300
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Abnormality of the anterior commissure, Pachygyria, Thin corpus callosum	ORPHA:572013
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Myopia, Chorioretinal dysplasia, Chorioretinal lacunae, Optic atrophy, Reduce...	OMIM:152950
Peroxisomal Acyl-Coa Oxidase Deficiency	Abnormality of visual evoked potentials, Myopia, Optic atrophy	ORPHA:2971
Lethal Ataxia With Deafness And Optic Atrophy	Decreased motor nerve conduction velocity, Blindness, Optic atrophy, Visual impairment, Abnormali...	ORPHA:1187
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Optic disc pallor, Abnormality of pattern visual evoked potentials, Progressive visual loss, Visu...	ORPHA:1947
Microphthalmia, Isolated, With Coloboma 9	Retinal detachment, Macular coloboma, Reduced visual acuity, Iris coloboma, Visual impairment	OMIM:615145
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Nyctalopia, Peripheral visual field loss, Hypoautofluorescent retinal lesion, Rod-cone dystrophy,...	OMIM:250410
Senior-Loken Syndrome 4	Severely reduced visual acuity, Rod-cone dystrophy, Amblyopia	OMIM:606996
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Aniridia 2	Aniridia, Optic atrophy, Iris coloboma, Amblyopia	OMIM:617141
Spastic Paraplegia 75, Autosomal Recessive	Optic atrophy, Reduced visual acuity, Hypermetropia	OMIM:616680
Pseudoxanthoma Elasticum	Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of the fundus, Optic disc druse...	OMIM:264800
Mucous Membrane Pemphigoid	Blindness	ORPHA:46486
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Myopia, Retinal atrophy, Hydrocephalus, Optic atrophy, Coloboma, Hypoplasia of the retina, Retina...	OMIM:253280
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Retinal degeneration	ORPHA:542306
Congenital Primary Aphakia	Abnormality of vision, Retinal dysplasia	ORPHA:83461
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Memory impairment, Hydrocephalus	ORPHA:1008
Masa Syndrome	Hydrocephalus, Short stature, Agenesis of corpus callosum, Ventriculomegaly	OMIM:303350
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Optic atrophy, Reduced visual acuity	ORPHA:466794
Lowry-Wood Syndrome	Pigmentary retinopathy, Nyctalopia, Peripheral visual field loss	OMIM:226960
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Blindness, Hydrocephalus, Optic nerve dyspl...	OMIM:615287
Friedreich Ataxia	Optic atrophy, Reduced visual acuity, Visual field defect, Abnormality of visual evoked potential...	OMIM:229300
Leukodystrophy, Hypomyelinating, 14	Blindness	OMIM:617899
Lissencephaly 5	Occipital encephalocele, Hydrocephalus, Optic atrophy	OMIM:615191
Intellectual Developmental Disorder, Autosomal Dominant 70	Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia, Hydrocephalus, Failure to thrive	OMIM:620157
Leber Optic Atrophy	Optic neuropathy, Visual loss, Central retinal vessel vascular tortuosity, Optic atrophy, Leber o...	OMIM:535000
Albinism, Ocular, Type I	Hypoplasia of the fovea, Ocular albinism, Reduced visual acuity, Depigmented fundus, Photophobia	OMIM:300500
Primary Angiitis Of The Central Nervous System	Abnormal visual field test, Diplopia, Reduced visual acuity, Pseudopapilledema, Amaurosis fugax, ...	ORPHA:140989
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus, Flexion contracture, Retinal dystrophy, Facial palsy	OMIM:613155
Momo Syndrome	Blindness, Retinal coloboma	OMIM:157980
Papillorenal Syndrome	Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio...	OMIM:120330
Microcephaly 20, Primary, Autosomal Recessive	Blindness, Agenesis of corpus callosum, Optic nerve hypoplasia	OMIM:617914
Biemond Syndrome Type 2	Hypogonadotropic hypogonadism, Short stature, Hydrocephalus, Obesity, Coloboma, Hypogonadism, Del...	ORPHA:141333
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Intrauterine growth retardation, Partial agenesis of the corpus callosum, Ventriculomegaly, Retin...	OMIM:619074
Mepan Syndrome	Abnormality of visual evoked potentials, Optic atrophy, Reduced visual acuity	ORPHA:508093
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ...	ORPHA:85167
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Macular degeneration	OMIM:619780
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Pseudoxanthoma Elasticum, Forme Fruste	Myopia, Reduced visual acuity, Retinal hemorrhage, Angioid streaks of the fundus, Macular degener...	OMIM:177850
Nasu-Hakola Disease	Hydrocephalus, Frontal lobe dementia, Irritability, Abnormal adipose tissue morphology, Memory im...	ORPHA:2770
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c...	OMIM:120200
Edinburgh Malformation Syndrome	Hydrocephalus, Failure to thrive	OMIM:129850
Megalocornea	Retinal detachment, Reduced visual acuity	OMIM:309300
Fuchs Heterochromic Iridocyclitis	Papilledema, Optic disc pallor, Retinal perforation, Vitreous floaters, Epiretinal membrane, Redu...	ORPHA:263479
Cinca Syndrome	Retrobulbar optic neuritis, Blindness, Pseudopapilledema, Visual impairment	ORPHA:1451
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Hydrocephalus, Flexion contracture, Optic atrophy, Pigmentary retinopathy, Late...	OMIM:613154
Migraine, Familial Hemiplegic, 3	Photophobia, Blindness	OMIM:609634
Walker-Warburg Syndrome	Retinal detachment, Ventriculomegaly, Retinal dystrophy, Chorioretinal dysplasia, Cryptorchidism,...	ORPHA:899
Mucolipidosis Iii Alpha/Beta	Retinopathy, Retinal degeneration	OMIM:252600
Bardet-Biedl Syndrome 1	Myopia, Bone spicule pigmentation of the retina, Retinal dystrophy, Aganglionic megacolon, Hypera...	OMIM:209900
Joubert Syndrome 30	Retinal dystrophy, Reduced visual acuity	OMIM:617622
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Blindness, Decreased nerve conduction velocity, V...	ORPHA:206436
Papilloma Of Choroid Plexus	Papilledema, Hydrocephalus	OMIM:260500
Micro Syndrome	Abnormality of retinal pigmentation, Cerebral visual impairment, Optic atrophy, Retinal coloboma,...	ORPHA:2510
Optic Atrophy-Intellectual Disability Syndrome	Myopia, Optic disc hypoplasia, Optic nerve hypoplasia, Cerebral visual impairment, Amblyopia, Opt...	ORPHA:401777
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evok...	ORPHA:485421
Cranioectodermal Dysplasia 4	Nyctalopia, Rod-cone dystrophy, Hypermetropia, Visual impairment	OMIM:614378
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Reduced visual acuity, Optic disc pallor, Hydrocephalus, Nasofrontal encephalocele	OMIM:614195
Cryptococcosis	Blindness, Abnormal retinal morphology, Hydrocephalus, Vitritis, Abnormality of vision, Abnormal ...	ORPHA:1546
Senior-Loken Syndrome 8	Retinal dystrophy, Macular atrophy, Reduced visual acuity, Rod-cone dystrophy, Visual impairment	OMIM:616307
Gómez-López-Hernández Syndrome	Hydrocephalus, Short stature, Cognitive impairment	ORPHA:1532
Joubert Syndrome 14	Encephalocele, Morning glory anomaly, Hydrocephalus, Meningocele, Optic atrophy, Growth delay, Ir...	OMIM:614424
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Optic atrophy, Holoprosencephaly, Cognitive impairment	ORPHA:588
Metachromatic Leukodystrophy, Juvenile Form	Short attention span, Decreased nerve conduction velocity, Progressive psychomotor deterioration,...	ORPHA:309263
Pontocerebellar Hypoplasia, Type 15	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Hydrocephalus	OMIM:619302
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Myopia, Nyctalopia, Rod-cone dystrophy, High myopia	OMIM:617763
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Macular coloboma, Hydrocephalus, Optic atrophy, Pigmentary retinopathy, Abnormality of macular pi...	ORPHA:79282
Paget Disease Of Bone 5, Juvenile-Onset	Macular scar, Retinopathy, Angioid streaks of the fundus, Retinal degeneration	OMIM:239000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Retinal detachment, Ventriculomegaly, Remnants of the hyaloid vascular system, Opt...	OMIM:614643
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Central scotoma, Blindness, Optic atrophy, Visual impairment	ORPHA:543470
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Myopia, Cerebral visual impairment, Optic atrophy, Hypermetropia, Abnormality of visual evoked po...	OMIM:616875
Oculocutaneous Albinism Type 1A	Hypoplasia of the fovea, Ocular albinism, Photophobia, Abnormal optic nerve morphology, Abnormali...	ORPHA:79431
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Visual loss, Nonarteritic anterior ischemic optic neuropathy, Abnormality of visual evoked potent...	OMIM:125310
Intermediate Uveitis	Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, Reduced visual acuity, Macul...	ORPHA:279914
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Blindness, Optic atrophy, High myopia	OMIM:220500
Metachromatic Leukodystrophy, Adult Form	Short attention span, Decreased nerve conduction velocity, Progressive psychomotor deterioration,...	ORPHA:309271
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Pelizaeus-Merzbacher Disease	Abnormality of visual evoked potentials, Optic atrophy, Visual impairment	ORPHA:702
Alstrom Syndrome	Cone/cone-rod dystrophy, Blindness, Constriction of peripheral visual field, Visual loss, Photoph...	OMIM:203800
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy	Blindness	OMIM:607674
Cataract 11, Multiple Types	Blindness	OMIM:610623
Aica-Ribosuria Due To Atic Deficiency	Congenital blindness, Optic atrophy	OMIM:608688
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Retinal detachment, Exaggerated startle response, Hypoplasia of the pyramidal trac...	OMIM:253800
Joubert Syndrome 5	Occipital encephalocele, Reduced visual acuity, Retinal coloboma, Congenital blindness, Rod-cone ...	OMIM:610188
Tay-Sachs Disease	Cherry red spot of the macula, Blindness	OMIM:272800
Nephronophthisis 11	Retinal degeneration	OMIM:613550
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hydrocephalus, Optic atrophy, Inappropriate laughter, Cognitive impairment, Mental deterioration,...	OMIM:618476
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Optic atrophy, Colpocephaly, Macular hypoplasia, Chor...	OMIM:615219
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Myopia, Retinal dystrophy, Chorioretinal...	ORPHA:2526
Cherubism	Constriction of peripheral visual field, Macular scar, Optic neuropathy, Reduced visual acuity, M...	OMIM:118400
Maternal Uniparental Disomy Of Chromosome 4	Nyctalopia, Optic atrophy, Visual field defect, Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:96180
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Blindness, Optic atrophy	ORPHA:95433
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
Aprosencephaly And Cerebellar Dysgenesis	Aprosencephaly, Retinal dysplasia	OMIM:601374
Cerebral Visual Impairment	Optic disc pallor, Short attention span, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Re...	ORPHA:447788
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Metachromatic Leukodystrophy, Late Infantile Form	Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials, Emot...	ORPHA:309256
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Hydrocephalus, Chorioretinal atrophy, Dandy-Walker malformation	OMIM:220220
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Optic atrophy, Reduced visual acuity, Pigmentary retinopathy, Visual impairment	OMIM:617282
Vitamin K Antagonist Embryofetopathy	Intrauterine growth retardation, Myelomeningocele, Optic atrophy, Hydrocephalus	ORPHA:1914
Bardet-Biedl Syndrome 20	Papilledema, Constriction of peripheral visual field, Nyctalopia, Hypermetropia, Hemeralopia, Ret...	OMIM:619471
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Short stature, Hydrocephalus, Optic atrophy, Rapid neurologi...	ORPHA:585
Microphthalmia, Isolated 8	Retinal detachment, Retinal coloboma, Optic nerve hypoplasia, Hypoplastic optic chiasm	OMIM:615113
Biemond Syndrome Ii	Hydrocephalus, Short stature, Iris coloboma	OMIM:210350
Pierson Syndrome	Retinal detachment, Blindness, Remnants of the hyaloid vascular system, Retinal hemorrhage, High ...	OMIM:609049
Night Blindness, Congenital Stationary, Type 1H	Hypermetropia, Photophobia, Nyctalopia, Mild myopia	OMIM:617024
Pyruvate Dehydrogenase E1-Alpha Deficiency	Blindness, Partial agenesis of the corpus callosum, Cerebellar gliosis, Lateral ventricle dilatat...	ORPHA:79243
Bresek Syndrome	Aganglionic megacolon, Optic nerve hypoplasia, Cryptorchidism, Hydrocephalus, Growth delay, Intra...	ORPHA:85284
Werner Syndrome	Retinal degeneration	OMIM:277700
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Papilledema, Abnormality of retinal pigmentation, Large central visu...	ORPHA:580
47,Xyy Syndrome	Male infertility, Macroorchidism, Cryptorchidism, Hydrocephalus, Oligozoospermia, Azoospermia, At...	ORPHA:8
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Visual loss, Macular degeneration, Abnormal autonomic nervous system physiology, Abnormal cranial...	ORPHA:247234
Hyperostosis Cranialis Interna	Reduced visual acuity, Optic atrophy, Facial palsy	OMIM:144755
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Abnormality of visual evoked potentials, Myopia, Optic atrophy, Cerebral visual impairment	ORPHA:480898
Usher Syndrome Type 3	Scotoma, Visual loss, Nyctalopia, Hemianopia, High hypermetropia	ORPHA:231183
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Usher Syndrome Type 1	Scotoma, Visual loss, Nyctalopia, Hemianopia, High hypermetropia	ORPHA:231169
Band Heterotopia	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Peho Syndrome	Undetectable visual evoked potentials, Optic atrophy, Peripheral dysmyelination	OMIM:260565
Aceruloplasminemia	Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration	ORPHA:48818
Maternal Uniparental Disomy Of Chromosome 2	Retinal degeneration	ORPHA:96179
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Progressive neurologic deterioration, Abnormal retinal vascular morphol...	ORPHA:247691
Hurler Syndrome	Hydrocephalus, Retinal degeneration	OMIM:607014
Spastic Paraplegia 79B, Autosomal Recessive	Myopia, Visual loss, Optic atrophy, Opto-chiasmatic atrophy, Reduced visual acuity, Progressive v...	OMIM:615491
Xfe Progeroid Syndrome	Blindness, Optic atrophy, Visual impairment, Attenuation of retinal blood vessels	OMIM:610965
Microphthalmia-Brain Atrophy Syndrome	Lateral ventricle dilatation, Blindness	ORPHA:77299
White-Sutton Syndrome	Myopia, Blindness, Optic atrophy, Hypermetropia, Rod-cone dystrophy, Iris coloboma, Visual impair...	ORPHA:468678
Mannosidosis, Alpha B, Lysosomal	Gliosis, Retinal degeneration	OMIM:248500
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus, Depression	ORPHA:73256
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c...	ORPHA:231736
Mucopolysaccharidosis Type 3	Myopia, Blindness, Constriction of peripheral visual field, Hydrocephalus, Nyctalopia, Optic atro...	ORPHA:581
Night Blindness, Congenital Stationary, Type1I	Tritanomaly, Nyctalopia	OMIM:618555
Adams-Oliver Syndrome 2	Hydrocephalus, Optic atrophy, Lateral ventricle dilatation	OMIM:614219
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri...	OMIM:609637
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Reduced visual acuity, Coloboma, Macular hypoplasia, Aniridia	ORPHA:2334
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Failure to thrive, Optic atrophy, Ventriculomegaly	ORPHA:60040
Xq12-Q13.3 Duplication Syndrome	Optic disc pallor, Short stature, Cryptorchidism, Abnormality of visual evoked potentials, Ventri...	ORPHA:314389
Leber Congenital Amaurosis 3	Visual loss, Nyctalopia, Constriction of peripheral visual field	OMIM:604232
Rabin-Pappas Syndrome	Retinal detachment, Failure to thrive in infancy, Optic nerve hypoplasia, Retinal telangiectasia,...	OMIM:620155
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Retinal atrophy	ORPHA:412057
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus, Optic atrophy	ORPHA:93262
Xq21 Microdeletion Syndrome	Abnormal chorioretinal morphology, Chorioretinal degeneration, Reticular pigmentary degeneration,...	ORPHA:1435
Nephronophthisis 18	Hydrocephalus, Retinitis	OMIM:615862
Joubert Syndrome With Ocular Defect	Encephalocele, Retinal dystrophy, Aganglionic megacolon, Hydrocephalus, Retinal coloboma, Agenesi...	ORPHA:220493
Leukodystrophy, Hypomyelinating, 12	Reduced visual acuity, Optic atrophy, Abnormal autonomic nervous system physiology, Cerebral visu...	OMIM:616683
Antiphospholipid Syndrome, Familial	Retinal detachment, Visual loss, Vitritis, Central retinal artery occlusion, Retinal vasculitis, ...	OMIM:107320
Infantile Neuronal Ceroid Lipofuscinosis	Visual loss, Blindness, Progressive visual field defects	ORPHA:79263
Crouzon Syndrome	Hydrocephalus, Optic atrophy, Iris coloboma	ORPHA:207
Gm1 Gangliosidosis	Blindness, Abnormal retinal vascular morphology, Optic atrophy, Retinopathy of prematurity, Cherr...	ORPHA:354
Arima Syndrome	Blindness, Retinal dystrophy, Optic atrophy, Chorioretinal coloboma, Occipital meningocele	OMIM:243910
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly, Blindness	OMIM:618731
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Dysplastic corpus callosum, Hydrocephalus, Optic atrophy, Dandy-Wal...	OMIM:617281
Craniopharyngioma	Papilledema, Bitemporal hemianopia, Abnormal visual field test, Hydrocephalus, Progressive visual...	ORPHA:54595
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Blindness, Decreased nerve conduction velocity, V...	ORPHA:206443
Congenital Disorder Of Glycosylation, Type Iil	Hydrocephalus, Optic atrophy, Growth delay, Intrauterine growth retardation, Enamel hypoplasia, F...	OMIM:614576
Distal 7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Hydrocephalus, Frontal encephalocele, Attention ...	ORPHA:261102
Pettigrew Syndrome	Aqueductal stenosis, Hydrocephalus, Optic atrophy, Reduced visual acuity	OMIM:304340
Hermansky-Pudlak Syndrome 6	Amblyopia, Ocular albinism, Reduced visual acuity, Absent foveal reflex, Photophobia, Macular hyp...	OMIM:614075
Greig Cephalopolysyndactyly Syndrome	Inguinal hernia, Cryptorchidism, Hydrocephalus, Camptodactyly of toe, Umbilical hernia, Joint con...	OMIM:175700
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Visual impairment, Retinal degeneration	OMIM:618479
1Q44 Microdeletion Syndrome	Short stature, Optic disc hypoplasia, Hydrocephalus, Growth delay, Agenesis of corpus callosum, V...	ORPHA:238769
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Optic nerve dysplasia, Reduced visual acuity, Hypermetro...	OMIM:617296
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Short stature, Hydrocephalus, Obesity, Azoospermia	ORPHA:2183
Temple Syndrome	Small for gestational age, Short stature, Overweight, Cryptorchidism, Hydrocephalus, Flexion cont...	OMIM:616222
Momo Syndrome	Blindness, Chorioretinal coloboma	ORPHA:2563
Cockayne Syndrome A	Abnormal peripheral myelination, Loss of facial adipose tissue, Retinal atrophy, Short stature, R...	OMIM:216400
Fg Syndrome Type 1	Inguinal hernia, Progressive flexion contractures, Optic nerve hypoplasia, Short stature, Cryptor...	ORPHA:93932
White-Sutton Syndrome	Short stature, Optic nerve hypoplasia, Congenital diaphragmatic hernia, Rod-cone dystrophy, Obesi...	OMIM:616364
Isolated Complex I Deficiency	Optic disc pallor, Blindness, Optic neuropathy	ORPHA:2609
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Short stature, Facial palsy, Hydrocephalus, Optic atrophy, Undetectable visual...	OMIM:259720
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Retinal dystrophy, Optic nerve hypoplasia, Hydrocephalus, Nyctalopia, Optic atrophy	OMIM:619321
Temple Syndrome	Small for gestational age, Short stature, Postnatal growth retardation, Cryptorchidism, Hydroceph...	ORPHA:254516
Kniest Dysplasia	Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, High myopia,...	ORPHA:485
Greig Cephalopolysyndactyly Syndrome	Umbilical hernia, Hydrocephalus, Agenesis of corpus callosum, Congenital diaphragmatic hernia	ORPHA:380
3C Syndrome	Inguinal hernia, Ventriculomegaly, Short stature, Postnatal growth retardation, Hydrocephalus, Op...	ORPHA:7
Corpus Callosum, Partial Agenesis Of, X-Linked	Partial agenesis of the corpus callosum, Aganglionic megacolon, Hydrocephalus, Ventriculomegaly	OMIM:304100
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Short stature, Confusion, Cachexia, Hydrocephalus, Optic atrophy, Retinopathy	ORPHA:220295
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Umbilical hernia, Hydrocephalus, Short stature	ORPHA:1516
Mucopolysaccharidosis, Type Ii	Papilledema, Inguinal hernia, Abnormality of retinal pigmentation, Short stature, Severe short st...	OMIM:309900
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Blindness, Retinal dystrophy, Chorioretinal dysplasia, Ambly...	ORPHA:2556
Osteopetrosis, Autosomal Recessive 9	Papilledema, Reduced visual acuity	OMIM:620366
Chromosome 6Pter-P24 Deletion Syndrome	Hydrocephalus, Pigmentary retinopathy, Umbilical hernia, Agenesis of corpus callosum, Dandy-Walke...	OMIM:612582
Pelvis-Shoulder Dysplasia	Short stature, Camptodactyly of finger, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydro...	ORPHA:2839
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Myopia, Blindness, Aganglionic megacolon, Optic atrophy, Agenesis of corpus callosum	ORPHA:847
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Optic atrophy, Abnormal autonomic nervous system physiology, Abnormality...	OMIM:231550
Tay-Sachs Disease	Blindness, Optic atrophy, Gliosis, Cherry red spot of the macula, Visual impairment	ORPHA:845
Williams-Beuren Region Duplication Syndrome	Small for gestational age, Short stature, Cryptorchidism, Hydrocephalus, Attention deficit hypera...	OMIM:609757
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:618577
Papillary Tumor Of The Pineal Region	Memory impairment, Hydrocephalus, Increased CSF protein concentration, Cognitive impairment	ORPHA:251915
Cockayne Syndrome Type 3	Optic disc pallor, Peripheral axonal neuropathy, Retinal atrophy, Retinal dystrophy, Retinal hemo...	ORPHA:90324
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Inguinal hernia, Hydrocephalus, Optic atrophy, Umbilical hernia, Yellow/...	ORPHA:93400
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Exudative retinopathy, Blindness, Optic atrophy, Retinal telangiectasia	OMIM:612199
Abetalipoproteinemia	Abnormality of retinal pigmentation, Blindness, Scotoma, Nyctalopia, Progressive visual loss, Rod...	ORPHA:14
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Hermansky-Pudlak Syndrome 1	Photophobia, Severely reduced visual acuity, Ocular albinism, Blindness	OMIM:203300
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Encephalocele, Remnants of the hyaloid vascular system, Optic ...	OMIM:603671
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hydrocephalus, Optic atrophy, Cognitive impairment, Mental deterioration, Failure to thrive, Vent...	ORPHA:395
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cryptorchidism, Hydrocephalus, Optic atrophy, Agenesis of corpus callosum,...	ORPHA:3301
Proteus-Like Syndrome	Communicating hydrocephalus, Retinal detachment, Hydrocephalus, Subcutaneous lipoma, Shagreen patch	ORPHA:2969
Sandhoff Disease	Cherry red spot of the macula, Orthostatic hypotension, Blindness	OMIM:268800
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus, Small for gestational age	OMIM:618302
Mitochondrial Complex I Deficiency, Nuclear Type 4	Blindness	OMIM:618225
Autosomal Dominant Optic Atrophy And Cataract	Blindness, Red-green dyschromatopsia, Central scotoma, Optic atrophy, Reduced visual acuity, Trit...	ORPHA:67036
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Myopia, Optic atrophy, Reduced visual acuity, Hypermetropia, Nonprogressive visual loss, Achromat...	OMIM:614800
Hermansky-Pudlak Syndrome 4	Hypoplasia of the fovea, Ocular albinism, Reduced visual acuity	OMIM:614073
Autosomal Recessive Spastic Paraplegia Type 55	Optic neuropathy, Optic atrophy, Reduced visual acuity, Decreased sensory nerve conduction veloci...	ORPHA:320375
Pituitary Deficiency Due To Rathke Cleft Cysts	Bitemporal hemianopia, Hydrocephalus, Diplopia, Slow decrease in visual acuity, Optic nerve compr...	ORPHA:91350
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Short stature, Microcephaly, Hypoplastic anterior commissure, Attention deficit hyperactivity dis...	OMIM:616975
Central Precocious Puberty In Male	Hydrocephalus, Abnormality of the testis size, Attention deficit hyperactivity disorder	ORPHA:649929
Dysosteosclerosis	Blindness, Facial paralysis, Optic atrophy	OMIM:224300
Bohring-Opitz Syndrome	Retinal atrophy, Optic atrophy, High myopia, Coloboma, Agenesis of corpus callosum	ORPHA:97297
Hydranencephaly	Abnormality of vision, Blindness, Chorioretinal atrophy, Optic nerve hypoplasia	ORPHA:2177
Sympathetic Ophthalmia	Retinal detachment, Papilledema, Vitreous floaters, Vitritis, Retinal hemorrhage, Reduced visual ...	ORPHA:79098
Alexander Disease Type I	Hydrocephalus, Failure to thrive, Cachexia	ORPHA:363717
Alpers-Huttenlocher Syndrome	Abnormality of vision, Blindness	ORPHA:726
Hermansky-Pudlak Syndrome 8	Hypoplasia of the fovea, Optic disc pallor, Myopia, Moderate hypermetropia, Ocular albinism, Redu...	OMIM:614077
Trichothiodystrophy	Myopia, Partial agenesis of the corpus callosum, Photophobia, Macular degeneration, Retinal degen...	ORPHA:33364
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Retinal dystrophy, Hydrocephalus, Optic disc col...	OMIM:608091
L1 Syndrome	Aqueductal stenosis, Hydrocephalus, Aganglionic megacolon, Depression	ORPHA:275543
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Photophobia, Optic disc pallor, Constriction of peripheral visual field, Reduced visual acuity	OMIM:618527
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Reduced visual acuity, Photophobia,...	ORPHA:79432
Posterior Polymorphous Corneal Dystrophy	Very low visual acuity, Chorioretinal degeneration, Amblyopia, Reduced visual acuity, Photophobia...	ORPHA:98973
1Q21.1 Microdeletion Syndrome	Inguinal hernia, Short stature, Cryptorchidism, Hydrocephalus, Depression, Attention deficit hype...	ORPHA:250989
Aicardi-Goutieres Syndrome 4	Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis	OMIM:610333
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Nyctalopia	OMIM:277350
Omphalocele-Cleft Palate Syndrome, Lethal	Omphalocele, Hydrocephalus	OMIM:258320
Meningioma	Papilledema, Bitemporal hemianopia, Blindness, Facial palsy, Hydrocephalus, Neurofibroma, Slow de...	ORPHA:2495
Acalvaria	Omphalocele, Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Duplication Of The Pituitary Gland	Encephalocele, Short stature, Microcephaly, Abnormal hypothalamus morphology, Decreased body weig...	ORPHA:314621
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Blindness	OMIM:603387
Immunoneurologic Disorder, X-Linked	Nyctalopia	OMIM:300076
Mpdu1-Cdg	Undetectable visual evoked potentials, Optic atrophy	ORPHA:79323
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Short stature, Cachexia, Decreased nerve conduction velocity, Abnormality of visual evoked potent...	ORPHA:1933
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Confusion, Hydrocephalus, Pigmentary retinopathy, Dementia, Failure to thrive, Delirium	OMIM:277400
Acrodysostosis 1 With Or Without Hormone Resistance	Small for gestational age, Mild postnatal growth retardation, Short stature, Cryptorchidism, Hydr...	OMIM:101800
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Umbilical hernia, Hydrocephalus, Obesity, Cryptorchidism	ORPHA:171839
Intellectual Developmental Disorder, X-Linked 30	Short attention span, Hydrocephalus, Short stature	OMIM:300558
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly, Hernia	OMIM:602501
Alexander Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:203450
Cockayne Syndrome	Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Retinal dystrophy, Perip...	ORPHA:191
Hurler Syndrome	Short stature, Camptodactyly of finger, Hydrocephalus, Depression, Growth delay, Hernia, Abnormal...	ORPHA:93473
X-Linked Immunoneurologic Disorder	Nyctalopia	ORPHA:2571
Thanatophoric Dysplasia Type 2	Encephalocele, Short stature, Hydrocephalus, Holoprosencephaly, Cognitive impairment, Ventriculom...	ORPHA:93274
Infantile Sialic Acid Storage Disease	Hydrocephalus, Failure to thrive	OMIM:269920
Linear Skin Defects With Multiple Congenital Anomalies 1	Short stature, Congenital diaphragmatic hernia, Hydrocephalus, Pigmentary retinopathy, Colpocepha...	OMIM:309801
Asparagine Synthetase Deficiency	Blindness, Optic nerve hypoplasia, Cerebral visual impairment	OMIM:615574
Charcot-Marie-Tooth Disease, Type 4D	Myopia, Abnormal auditory evoked potentials, Segmental peripheral demyelination/remyelination, De...	OMIM:601455
Peho Syndrome	Hydrocephalus, Flexion contracture, Optic atrophy, Arthrogryposis multiplex congenita, Ventriculo...	ORPHA:2836
Hyper-Igd Syndrome	Optic disc pallor, Nyctalopia, Rod-cone dystrophy	OMIM:260920
Craniofacial Dyssynostosis With Short Stature	Short stature, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:218350
Emanuel Syndrome	Inguinal hernia, Multiple joint contractures, Ventriculomegaly, Congenital diaphragmatic hernia, ...	ORPHA:96170
Fanconi Anemia, Complementation Group B	Hypergonadotropic hypogonadism, Optic disc hypoplasia, Hydrocephalus, Growth delay, Hypogonadism,...	OMIM:300514
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Short stature, Abnormal auditory evoked potentials, Hydrocephalus, Agenesis of corpus callosum, V...	OMIM:109120
Primary Ciliary Dyskinesia	Male infertility, Female infertility, Hydrocephalus, Rod-cone dystrophy, Abnormal sperm motility,...	ORPHA:244
Hermansky-Pudlak Syndrome 11	Hypoplasia of the fovea, Photophobia, Ocular albinism, Reduced visual acuity	OMIM:619172
Mitochondrial Complex I Deficiency, Nuclear Type 1	Undetectable visual evoked potentials, Optic disc pallor, Blindness, Optic neuropathy	OMIM:252010
Neurodegeneration With Brain Iron Accumulation 1	Pigmentary retinopathy, Optic atrophy, Retinal degeneration	OMIM:234200
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Blindness	OMIM:250940
Neural Tube Defects, Susceptibility To	Hydrocephalus, Myelomeningocele, Anencephaly, Multiple lipomas, Lipoma, Spina bifida occulta	OMIM:182940
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Retinal detachment, Blindness, Myopia	OMIM:225400
Osteoporosis-Pseudoglioma Syndrome	Blindness, Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Congenital blindness	OMIM:259770
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus, Obesity	OMIM:616521
Cockayne Syndrome B	Reduced subcutaneous adipose tissue, Severe short stature, Small for gestational age, Abnormal pe...	OMIM:133540
Dural Sinus Malformation	Papilledema, Myelopathy, Hydrocephalus, Dementia, Mental deterioration	ORPHA:97339
Cerebrotendinous Xanthomatosis	Optic disc pallor, Optic neuropathy, Abnormal auditory evoked potentials, Abnormal retinal vascul...	ORPHA:909
Hydrolethalus Syndrome 2	Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:614120
Pontocerebellar Hypoplasia, Type 7	Cryptorchidism, Hydrocephalus, Optic atrophy, Ventriculomegaly	OMIM:614969
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus, Flexion contracture, Small for gestational age, Disproportionate short-trunk short...	OMIM:613330
Autosomal Recessive Spastic Paraplegia Type 44	Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Abnormality of soma...	ORPHA:320401
6P22 Microdeletion Syndrome	Hydrocephalus, Hernia	ORPHA:251046
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Blindness	OMIM:614514
Hermansky-Pudlak Syndrome	Myopia, Amblyopia, Ocular albinism, Photophobia, Abnormal optic nerve morphology, Abnormality of ...	ORPHA:79430
Jacobsen Syndrome	Cryptorchidism, Hydrocephalus, Flexion contracture, Optic atrophy, Macular hypoplasia, Holoprosen...	OMIM:147791
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Retinal degeneration	OMIM:208500
Amelocerebrohypohidrotic Syndrome	Short stature, Abnormal dental enamel morphology, Hydrocephalus, Dementia, Mental deterioration, ...	ORPHA:1946
Albinism, Oculocutaneous, Type Ia	Hypoplasia of the fovea, Myopia, Ocular albinism, Reduced visual acuity, Photophobia, Visual impa...	OMIM:203100
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Nyctalopia, Constriction of peripheral visual field, Agenesis of corpus callosum, Macular atrophy	OMIM:619418
Hermansky-Pudlak Syndrome 7	Ocular albinism, Reduced visual acuity, Visual impairment	OMIM:614076
Hemangioblastoma	Retinal capillary hemangioma, Hydrocephalus	ORPHA:252054
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Facial palsy, Hydrocephalus, Cranial nerve compr...	ORPHA:2356
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Blindness	OMIM:236270
Hec Syndrome	Abnormal retinal vascular morphology, Communicating hydrocephalus, Vaginal hydrocele	ORPHA:2119
Axenfeld-Rieger Syndrome, Type 2	Hydrocephalus, Blindness	OMIM:601499
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Retinal dystrophy, Aqueductal stenosis, Cryptorchidism, Partial agenesis of the corpus callosum, ...	OMIM:619512
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system, Short stature, Intrauterine growth r...	ORPHA:2714
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Inguinal hernia, Short stature, Hydrocephalus, Attention deficit hyperactivity disorder, Camptoda...	ORPHA:459061
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Retinal hemorrhage, Dementia, Cognitive impairment, Subependymal nod...	ORPHA:25
Wolfram Syndrome 2	Optic neuropathy, Optic atrophy, Primary amenorrhea, Depression, Oligomenorrhea	OMIM:604928
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Reduced visual acuity	OMIM:604229
Gm1 Gangliosidosis Type 1	Cherry red spot of the macula, Blindness	ORPHA:79255
Norrie Disease	Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, C...	ORPHA:649
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Retinal dystrophy, Ventriculomegaly	OMIM:616538
Stromme Syndrome	Optic nerve hypoplasia, Hydrocephalus, Retinal vascular tortuosity, Agenesis of corpus callosum, ...	OMIM:243605
Mucopolysaccharidosis Type 1	Inguinal hernia, Short stature, Hydrocephalus, Optic atrophy, Hernia, Retinopathy	ORPHA:579
X-Linked Cerebral Adrenoleukodystrophy	Myelopathy, Blindness, Peripheral axonal neuropathy, Reduced visual acuity	ORPHA:139396
Hermansky-Pudlak Syndrome 5	Hypoplasia of the fovea, Ocular albinism, Reduced visual acuity	OMIM:614074
Holoprosencephaly	Omphalocele, Encephalocele, Failure to thrive in infancy, Congenital diaphragmatic hernia, Crypto...	ORPHA:2162
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Hydrocephalus, Hydranencephaly, Intrauterine growth retardation, Joint contract...	OMIM:225790
Alport Syndrome	Macular degeneration, Retinal flecks, Anterior lenticonus	ORPHA:63
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Reduced visual acuity, Perifoveal ring of hyperautofluorescence, Constriction of peripheral visua...	OMIM:240300
Pineoblastoma	Papilledema, Progressive visual field defects, Reduced visual acuity, Retinoblastoma, Amaurosis f...	ORPHA:251909
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Cryptorchidism, Hydrocephalus, Short stature	ORPHA:2701
Edinburgh Malformation Syndrome	Hydrocephalus, Failure to thrive	ORPHA:1895
Alpha-N-Acetylgalactosaminidase Deficiency	Blindness	ORPHA:3137
Hogue-Janssen Syndrome 2	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:616362
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Short stature, Overweight, Cryptorchidism, Dilated third ventricle, Flexion contracture, Hydrocep...	ORPHA:500055
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Corticospinal tract hypoplasia, Hydrocephalus, Agenesis of corpus callosum	OMIM:307000
Emanuel Syndrome	Inguinal hernia, Ventriculomegaly, Congenital diaphragmatic hernia, Cryptorchidism, Hydrocephalus...	OMIM:609029
Metatropic Dysplasia	Hydrocephalus, Severe short stature, Camptodactyly of finger	ORPHA:2635
Alexander Disease	Facial palsy, Aqueductal stenosis, Hydrocephalus, Depression, Abnormal autonomic nervous system p...	ORPHA:58
Rhombencephalosynapsis	Septo-optic dysplasia, Aganglionic megacolon, Hydrocephalus, Ventriculomegaly	ORPHA:59315
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Umbilical hernia, Hydrocephalus, Optic atrophy, Cryptorchidism	ORPHA:1555
Monosomy 18Q	Short stature, Abnormal retinal morphology, Bilateral cryptorchidism, Hydrocephalus, Growth delay...	ORPHA:1600
Autosomal Recessive Malignant Osteopetrosis	Abnormality of visual evoked potentials, Hydrocephalus, Optic nerve compression, Visual impairment	ORPHA:667
Anterior Segment Dysgenesis 8	Optic nerve dysplasia	OMIM:617319
Thanatophoric Dysplasia	Intrauterine growth retardation, Hydrocephalus, Disproportionate short-limb short stature, Ventri...	ORPHA:2655
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Mental deterioration, Dandy-Walker malformation	OMIM:249400
Cystinosis, Nephropathic	Blindness, Retinal pigment epithelial mottling, Reduced visual acuity, Photophobia, Pigmentary re...	OMIM:219800
Gaucher Disease, Type I	Macular atrophy	OMIM:230800
Cutis Laxa, Autosomal Recessive, Type Iib	Inguinal hernia, Hydrocephalus, Intrauterine growth retardation, Failure to thrive, Agenesis of c...	OMIM:612940
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Growth delay, Congenital contracture, Colpocephaly, Agenesis of corpus callosum, V...	OMIM:620156
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Inguinal hernia, Hydrocephalus, Optic disc coloboma, Chorioretinal colob...	ORPHA:1454
Mycophenolate Mofetil Embryopathy	Congenital diaphragmatic hernia, Hydrocephalus, Chorioretinal coloboma, Agenesis of corpus callos...	ORPHA:268249
Apert Syndrome	Agenesis of corpus callosum, Hydrocephalus, Optic atrophy, Ventriculomegaly	ORPHA:87
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:2182
Myopathy, Tubular Aggregate, 1	Nyctalopia	OMIM:160565
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Optic atrophy, Growth delay, Lateral ventricle dilatation, Optic nerve compression	OMIM:612301
Ophthalmomandibulomelic Dysplasia	Blindness	ORPHA:2741
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly, Retinal coloboma, Occipital meningoc...	OMIM:616546
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Nyctalopia, Optic a...	ORPHA:217085
Crouzon Syndrome	Hydrocephalus, Optic atrophy	OMIM:123500
Congenital Bile Acid Synthesis Defect Type 1	Nyctalopia	ORPHA:79301
Spinocerebellar Ataxia, Autosomal Recessive 3	Blindness	OMIM:271250
Farber Disease	Macular degeneration, Cherry red spot of the macula	ORPHA:333
B4Galt1-Cdg	Hydrocephalus, Small for gestational age, Dandy-Walker malformation	ORPHA:79332
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Nyctalopia, Optic a...	ORPHA:217093
Triploidy	Omphalocele, Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly, Intrauterine growth r...	ORPHA:3376
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Myopia, Amblyopia, Retinal arteriolar tortuosity, Hydrocephalus, Retinal hemorrhage, Hypermetropi...	OMIM:175780
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:83473
7Q11.23 Microduplication Syndrome	Inguinal hernia, Short stature, Congenital diaphragmatic hernia, Cryptorchidism, Hydrocephalus, O...	ORPHA:96121
Vacterl With Hydrocephalus	Inguinal hernia, Femoral hernia, Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus...	ORPHA:3412
Chromosome 6Q24-Q25 Deletion Syndrome	Short attention span, Hydrocephalus, Growth delay, Lateral ventricle dilatation, Diminished abili...	OMIM:612863
Beare-Stevenson Cutis Gyrata Syndrome	Agenesis of corpus callosum, Hydrocephalus, Optic atrophy, Ventriculomegaly	OMIM:123790
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Short stature	OMIM:257910
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Cryptorchidism, Hydrocephalus, Growth delay, Holoprosencephaly, Agenesis of corpus callosum, Iris...	ORPHA:77298
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Hydrocephalus	OMIM:300886
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Cryptorchidism, Hydrocephalus, Umbilical hernia, Failure to thrive, Dandy-Walker malformation, In...	OMIM:612938
Trisomy 1Q	Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Cryptorchidism, Hydrocepha...	ORPHA:261344
Methylcobalamin Deficiency Type Cble	Postnatal growth retardation, Hydrocephalus, Intrauterine growth retardation, Failure to thrive, ...	ORPHA:2169
Usher Syndrome Type 2	Myopia, Scotoma, Visual loss, Nyctalopia, Hemianopia	ORPHA:231178
Ritscher-Schinzel Syndrome 1	Coloboma, Hydrocephalus, Dandy-Walker malformation, Intrauterine growth retardation	OMIM:220210
Whipple Disease	Erectile dysfunction, Hydrocephalus, Cachexia, Depression	ORPHA:3452
Gorlin Syndrome	Cryptorchidism, Hydrocephalus, Hypogonadotropic hypogonadism, Iris coloboma	ORPHA:377
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus, Abnormal dental enamel morphology, Obesity	ORPHA:2180
Plasminogen Deficiency, Type I	Hydrocephalus, Blindness	OMIM:217090
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Abnormality of visual evoked potentials, Short stature, Cachexia	ORPHA:1389
Pallister-Hall-Like Syndrome	Occipital encephalocele, Hydrocephalus, Short stature	OMIM:241800
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Hydrocephalus, Optic atrophy	OMIM:618590
Myopathy, Centronuclear, X-Linked	Facial palsy, Cryptorchidism, Hydrocephalus, Flexion contracture, Dandy-Walker malformation	OMIM:310400
Non-24-Hour Sleep-Wake Syndrome	Blindness	ORPHA:73267
Mogs-Cdg	Abnormality of visual evoked potentials, Absent brainstem auditory responses, Optic atrophy	ORPHA:79330
Musk, Inability To Smell	Blindness	OMIM:254150
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Blindness	OMIM:204850
Monosomy 9Q22.3	Large for gestational age, Hydrocephalus, Umbilical hernia, Retinopathy, Ventriculomegaly	ORPHA:77301
Osteopetrosis With Renal Tubular Acidosis	Cranial nerve compression, Retinal atrophy, Optic atrophy, Abnormal retinal morphology	ORPHA:2785
Koolen-De Vries Syndrome Due To A Point Mutation	Small for gestational age, Slender build, Testicular neoplasm, Spina bifida, Postnatal growth ret...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Small for gestational age, Slender build, Testicular neoplasm, Spina bifida, Postnatal growth ret...	ORPHA:363958
15Q Overgrowth Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Contracture of the proximal ...	ORPHA:314585
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Agenesis of corpus callosum	OMIM:207950
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Coloboma, Chorioretinal coloboma, Iris coloboma, Overweight, Obesity, Depression, Cognitive impai...	OMIM:619475
Oculocerebrocutaneous Syndrome	Ventriculomegaly, Congenital diaphragmatic hernia, Cryptorchidism, Hydrocephalus, Iris coloboma, ...	ORPHA:1647
Say-Barber-Miller Syndrome	Macular degeneration, Rod-cone dystrophy, Optic atrophy	ORPHA:3132
Intellectual Developmental Disorder, Autosomal Dominant 65	Agenesis of corpus callosum, Noncommunicating hydrocephalus, Attention deficit hyperactivity diso...	OMIM:619320
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Short stature, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holopro...	ORPHA:1908
Behçet Disease	Blindness, Retrobulbar optic neuritis, Photophobia, Optic neuritis, Retinopathy	ORPHA:117
Cerebrooculonasal Syndrome	Encephalocele, Ventriculomegaly, Optic nerve hypoplasia, Postnatal growth retardation, Hydrocepha...	OMIM:605627
Igg4-Related Dacryoadenitis And Sialadenitis	Blindness, Optic nerve compression, Abnormal optic nerve morphology	ORPHA:79078
Non-Functioning Pituitary Adenoma	Bitemporal hemianopia, Blindness, Diplopia, Hemianopia, Sudden loss of visual acuity, Heteronymou...	ORPHA:91349
Primary Hyperoxaluria	Optic disc pallor, Choroidal neovascularization, Optic atrophy, Reduced visual acuity, Retinopathy	ORPHA:416
Glutaric Acidemia I	Symmetrical progressive peripheral demyelination, Hydrocephalus, Failure to thrive, Lateral ventr...	OMIM:231670
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Tenorio Syndrome	Emotional lability, Hydrocephalus, Ventriculomegaly	OMIM:616260
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Umbilical hernia, Hydrocephalus	ORPHA:2181
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Failure to thrive, Short stature, Focal hypointensity of cerebral white matter on MRI, Hypoplasti...	ORPHA:261552
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Decreased female libido, Abnormality of the menstrual cycle, Hydroc...	ORPHA:91348
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Short stature, Cryptorchidism, Hydrocephalus, Multiple lipom...	ORPHA:636
Stickler Syndrome	Retinal detachment, Blindness, Myopia, Abnormal vitreous humor morphology, Visual impairment	ORPHA:828
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system, Retinal fold	OMIM:221900
Cardiofaciocutaneous Syndrome	Failure to thrive in infancy, Short stature, Cryptorchidism, Hydrocephalus, Optic atrophy	ORPHA:1340
Joubert Syndrome With Renal Defect	Encephalocele, Aganglionic megacolon, Hydrocephalus, Agenesis of corpus callosum, Iris coloboma	ORPHA:220497
Cardiofaciocutaneous Syndrome 1	Peripheral axonal neuropathy, Short stature, Hydrocephalus, Optic nerve dysplasia, Failure to thrive	OMIM:115150
Herpes Simplex Virus Stromal Keratitis	Blindness, Reduced visual acuity	ORPHA:137599
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus, Ocular albinism, Short stature	ORPHA:2720
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Inguinal hernia, Optic nerve hypoplasia, Hydrocephalus, Agenesis of corpus callosum, Ventriculome...	ORPHA:457284
Houge-Janssens Syndrome 1	Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly	OMIM:616355
Mosaic Variegated Aneuploidy Syndrome 1	Ventriculomegaly, Small for gestational age, Short stature, Postnatal growth retardation, Cryptor...	OMIM:257300
Alobar Holoprosencephaly	Short stature, Hydrocephalus, Flexion contracture, Depression, Growth delay, Irritability, Neural...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Short stature, Hydrocephalus, Flexion contracture, Depression, Growth delay, Irritability, Neural...	ORPHA:93926
Lobar Holoprosencephaly	Short stature, Hydrocephalus, Flexion contracture, Depression, Growth delay, Irritability, Neural...	ORPHA:93924
Semilobar Holoprosencephaly	Short stature, Hydrocephalus, Flexion contracture, Depression, Growth delay, Irritability, Neural...	ORPHA:220386
Tuberous Sclerosis Complex	Retinal astrocytic hamartoma, Retinal hamartoma, Pancreatic endocrine tumor, Noncommunicating hyd...	ORPHA:805
Encephalocraniocutaneous Lipomatosis	Cryptorchidism, Hydrocephalus, Multiple central nervous system lipomas, Lipoma, Dandy-Walker malf...	OMIM:613001
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Hydrocephalus, Flexion contracture, Optic atrophy, Hernia	ORPHA:505248
Desmosterolosis	Severe short stature, Hydrocephalus, Growth delay, Intrauterine growth retardation, Failure to th...	ORPHA:35107
Developmental And Epileptic Encephalopathy 3	Abnormality of visual evoked potentials	OMIM:609304
Adrenoleukodystrophy	Visual loss, Blindness	OMIM:300100
Gaucher Disease	Ventriculomegaly, Short stature, Hydrocephalus, Depression, Delayed puberty, Retinopathy, Cherry ...	ORPHA:355
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus, Scarring	ORPHA:398189
Prolactinoma	Bitemporal hemianopia, Blindness, Diplopia, Hemianopia, Sudden loss of visual acuity, Heteronymou...	ORPHA:2965
Ophthalmomandibulomelic Dysplasia	Blindness	OMIM:164900
Marshall-Smith Syndrome	Omphalocele, Short stature, Optic nerve hypoplasia, Bilateral cryptorchidism, Cryptorchidism, Hyd...	OMIM:602535
Coccidioidomycosis	Abnormal retinal morphology, CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Atypic...	ORPHA:228123
Histiocytoid Cardiomyopathy	Agenesis of corpus callosum, Hydrocephalus, Failure to thrive, Optic atrophy	ORPHA:137675
Hydrolethalus	Anencephaly, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum	ORPHA:2189
Cerebrooculonasal Syndrome	Blindness	ORPHA:66625
Congenital Microcoria	Blindness, Axial myopia, Nyctalopia, Photophobia, Hemeralopia, Visual impairment, Blurred vision	ORPHA:566
Peroxisome Biogenesis Disorder 12A (Zellweger)	Growth delay, Hydrocephalus, Short stature, Decreased body weight	OMIM:614886
Acquired Aneurysmal Subarachnoid Hemorrhage	Progressive neurologic deterioration, Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate, C...	ORPHA:90065
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Inguinal hernia, Abnormal dental enamel morphology, Cryptorchidism, Hydrocephalus, Agenesis of co...	ORPHA:1812
Pseudotrisomy 13 Syndrome	Omphalocele, Encephalocele, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Cyclopia, Agenesis ...	OMIM:264480
Medulloblastoma	Irritability, Hydrocephalus, Cognitive impairment, Abnormal cranial nerve morphology	ORPHA:616
Desmosterolosis	Rhizomelia, Hydrocephalus, Partial agenesis of the corpus callosum, Joint contracture of the hand...	OMIM:602398
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, Hydrocephalus, Short stature, Intrauterine growth retardation	OMIM:300863
Distal Triplication 15Q	Large for gestational age, Hydrocephalus, Flexion contracture, Hydrocele testis, Hernia, Camptoda...	ORPHA:314588
Lowry-Maclean Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Bilateral cryptorchidism, Hydrocephalus, Growth...	ORPHA:2409
Atelis Syndrome 2	Vitreous hemorrhage, Remnants of the hyaloid vascular system, Attention deficit hyperactivity dis...	OMIM:620185
Dpagt1-Cdg	Diffuse optic disc pallor, Nyctalopia, Rod-cone dystrophy, Optic atrophy	ORPHA:86309
22Q11.2 Deletion Syndrome	Inguinal hernia, Aganglionic megacolon, Abnormal dental enamel morphology, Spina bifida, Short st...	ORPHA:567
Marfanoid-Progeroid-Lipodystrophy Syndrome	Reduced subcutaneous adipose tissue, Lateral ventricular asymmetry, Lipoatrophy, Hydrocephalus, A...	OMIM:616914
Tetrasomy 5P	Postnatal growth retardation, Pericallosal lipoma, Hydrocephalus, Failure to thrive	ORPHA:3309
Amoebiasis Due To Free-Living Amoebae	Confusion, Abnormal basal ganglia morphology, Abnormal hypothalamus morphology, Irritability, Abn...	ORPHA:68
Developmental Malformations-Deafness-Dystonia Syndrome	Blindness	ORPHA:79107
Mend Syndrome	Short stature, Cryptorchidism, Hydrocephalus, Macular hypoplasia, Failure to thrive, Dandy-Walker...	OMIM:300960
Microphthalmia, Syndromic 2	Retinal detachment, Remnants of the hyaloid vascular system, Short stature, Cryptorchidism, Flexi...	OMIM:300166
Trisomy 17P	Short stature, Hydrocephalus, Flexion contracture, Growth delay, Intrauterine growth retardation	ORPHA:261290
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Retinal dystrophy, Visual loss, Peripheral visual field loss, Macular degeneration, Rod-cone dyst...	OMIM:266920
Gracile Bone Dysplasia	Aniridia, Hydrocephalus, Failure to thrive, Short stature	OMIM:602361
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Photophobia, Abnormality of visual evoked potentials, High myopia	OMIM:614457
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Optic disc pallor, Short attention span, Confusion, Depression, Umbi...	ORPHA:309282
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Short attention span, Failure to thrive, Short stature, Overweight, Hydrocephalus, Lateral ventri...	OMIM:619575
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Reduced visual acu...	ORPHA:790
Cole-Carpenter Syndrome 2	Postnatal growth retardation, Hydrocephalus, Short stature, Dentinogenesis imperfecta	OMIM:616294
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Rod-cone dystrophy, Growth delay	OMIM:616084
H Syndrome	Lipodystrophy, Short stature, Hydrocephalus, Delayed puberty, Azoospermia, Hypogonadism, Hernia, ...	ORPHA:168569
Mirage Syndrome	Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Hydrocephalus, Decreased body weig...	OMIM:617053
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus, Dementia	OMIM:236690
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Hydrocephalus, Short stature, Intrauterine growth retardation	ORPHA:163966
Griscelli Syndrome	Encephalocele, Hydrocephalus, Short stature	ORPHA:381
Aica-Ribosiduria	Congenital blindness	ORPHA:250977
Holoprosencephaly 14	Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Partial agenesis of the corpus c...	OMIM:619895
Lymphangioleiomyomatosis	Retinal hamartoma, Hydrocephalus, Optic atrophy, Cognitive impairment, Shagreen patch	ORPHA:538
Opitz-Kaveggia Syndrome	Inguinal hernia, Multiple joint contractures, Short stature, Cryptorchidism, Partial agenesis of ...	OMIM:305450
Alkuraya-Kucinskas Syndrome	Hydrocephalus, Camptodactyly, Arthrogryposis multiplex congenita, Dandy-Walker malformation, Vent...	OMIM:617822
Ruvalcaba Syndrome	Inguinal hernia, Cryptorchidism, Delayed puberty, Abnormality of visual evoked potentials, Intrau...	ORPHA:3121
Cln5 Disease	Abnormality of visual evoked potentials, Visual impairment	ORPHA:228360
Axial Mesodermal Dysplasia Spectrum	Omphalocele, Hydrocephalus, Short stature, Congenital diaphragmatic hernia	ORPHA:1834
Achondroplasia	Hydrocephalus, Disproportionate short stature, Rhizomelia, Obesity	ORPHA:15
Holoprosencephaly 9	Short stature, Optic nerve hypoplasia, Cryptorchidism, Partial agenesis of the corpus callosum, H...	OMIM:610829
Tetrasomy 15Q26	Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation, Camptodactyly	OMIM:614846
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Multiple joint contractures, Postnatal growth retardation, Hydrocephalus, Atrophic scars, Peripap...	ORPHA:536467
Microphthalmia With Limb Anomalies	Short stature, Cryptorchidism, Hydrocephalus, Optic atrophy, Camptodactyly of 2nd-5th fingers, Fa...	ORPHA:1106
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Failure to thrive, Optic disc hypoplasia, Camptodactyly of f...	ORPHA:3455
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Alobar holoprosencephaly, Holoprosencephaly, Chorioretin...	OMIM:157170
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Intrauterine growth retardation, Dandy-Wa...	OMIM:611134
Thanatophoric Dysplasia Type 1	Hydrocephalus, Lethal short-limbed short stature, Ventriculomegaly	ORPHA:1860
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Severe short stature, Rhizomelia, Hydrocephalus, Disproportionate short stature, Irregular menstr...	OMIM:616482
Ectodermal Dysplasia-Blindness Syndrome	Abnormality of vision, Blindness	ORPHA:1806
Diabetic Embryopathy	Cryptorchidism, Hydrocephalus, Spinal dysraphism	ORPHA:1926
Microphthalmia, Syndromic 6	Coloboma, Blindness, Myopia, Retinal dystrophy	OMIM:607932
Meckel Syndrome	Encephalocele, Abnormal chorioretinal morphology, Cryptorchidism, Hydrocephalus, Optic atrophy, A...	ORPHA:564
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Severe short stature, Hydrocephalus, Neonatal short-limb short stature, Camptodact...	OMIM:224400
Rodrigues Blindness	Blindness	OMIM:268320
Thanatophoric Dysplasia, Type I	Hydrocephalus, Lethal short-limbed short stature, Disproportionate short-limb short stature	OMIM:187600
Joubert Syndrome	Encephalocele, Hydrocephalus, Aganglionic megacolon, Iris coloboma	ORPHA:475
Lateral Meningocele Syndrome	Inguinal hernia, Short stature, Cryptorchidism, Hydrocephalus, Meningocele, Umbilical hernia, Kel...	OMIM:130720
Czeizel-Losonci Syndrome	Posterolateral diaphragmatic hernia, Spina bifida, Myelomeningocele, Hydrocephalus, Aplasia of th...	ORPHA:2437
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Severe short stature, Cryptorchidism, Hydrocephalus, Flexion contracture	ORPHA:1865
Fuchs Endothelial Corneal Dystrophy	Visual loss, Nyctalopia, Reduced visual acuity	ORPHA:98974
Atypical Werner Syndrome	Abnormality of retinal pigmentation, Retinal degeneration	ORPHA:79474
Aase-Smith Syndrome I	Hydrocephalus, Flexion contracture, Dandy-Walker malformation	OMIM:147800
Osteopathia Striata With Cranial Sclerosis	Omphalocele, Short stature, Facial palsy, Partial agenesis of the corpus callosum, Hydrocephalus,...	OMIM:300373
Mend Syndrome	Short stature, Abnormal auditory evoked potentials, Cryptorchidism, Hydrocephalus, Abnormal socia...	ORPHA:401973
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus, Short stature, Dentinogenesis imperfecta	OMIM:112240
Distal 22Q11.2 Microduplication Syndrome	Camptodactyly of finger, Cryptorchidism, Hydrocephalus, Optic disc coloboma, Attention deficit hy...	ORPHA:261337
Adams-Oliver Syndrome	Encephalocele, Hydrocephalus, Failure to thrive	ORPHA:974
17Q11 Microdeletion Syndrome	Multiple mucosal neuromas, Blindness, Retinal vascular proliferation, Schwannoma, Glomus jugular ...	ORPHA:97685
Mucoepithelial Dysplasia, Hereditary	Photophobia, Blindness, Eosinophilia	OMIM:158310
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Cachexia, Hydrocephalus, Growth delay, Azoospermia, Delayed puberty, Ventriculomegaly	ORPHA:2072
Focal Dermal Hypoplasia	Omphalocele, Inguinal hernia, Short stature, Congenital diaphragmatic hernia, Hiatus hernia, Cryp...	OMIM:305600
Chromosome 1P36 Deletion Syndrome, Distal	Optic disc pallor, Camptodactyly of finger, Cryptorchidism, Hydrocephalus, Optic disc coloboma, O...	OMIM:607872
Fanconi Anemia, Complementation Group D2	Hypergonadotropic hypogonadism, Small for gestational age, Short stature, Cryptorchidism, Hydroce...	OMIM:227646
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Hydrocephalus, Congenital contracture, Agenesis of corpus callosum, Ventriculomegaly	OMIM:613150
Genitopalatocardiac Syndrome	Cryptorchidism, Hydrocephalus, Congenital diaphragmatic hernia, Intrauterine growth retardation	ORPHA:2075
Mucopolysaccharidosis, Type Vii	Severe short stature, Short stature, Postnatal growth retardation, Hydrocephalus, Flexion contrac...	OMIM:253220
Marden-Walker Syndrome	Severe short stature, Camptodactyly of finger, Hydrocephalus, Growth delay, Attention deficit hyp...	ORPHA:2461
Dermatoosteolysis, Kirghizian Type	Nyctalopia	ORPHA:1657
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Cryptorchidism, Hydrocephalus, Camptodactyly of finger	OMIM:619951
Mccune-Albright Syndrome	Blindness	OMIM:174800
Peters-Plus Syndrome	Rhizomelia, Postnatal growth retardation, Cryptorchidism, Hydrocephalus, Birth length less than 3...	OMIM:261540
Endocrine-Cerebroosteodysplasia	Cryptorchidism, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:612651
Tetrasomy 9P	Abnormal chorioretinal morphology, Abnormal dental enamel morphology, Cryptorchidism, Hydrocephal...	ORPHA:3310
Tsh-Secreting Pituitary Adenoma	Bitemporal hemianopia, Blindness, Abnormal visual field test, Diplopia, Hemianopia, Sudden loss o...	ORPHA:91347
Kabuki Syndrome	Short stature, Congenital diaphragmatic hernia, Cryptorchidism, Hydrocephalus, Obesity, Coloboma,...	ORPHA:2322
Chromosome 17P13.1 Deletion Syndrome	Spina bifida, Hydrocephalus, Elbow flexion contracture, Knee flexion contracture, Hydrocele testi...	OMIM:613776
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Hb Bart'S Hydrops Fetalis	Hydrocephalus	ORPHA:163596
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Visual loss, Blindness, Iris coloboma, Amblyopia	ORPHA:2250
Metachromatic Leukodystrophy	Decreased nerve conduction velocity, Dementia, Abnormality of visual evoked potentials, Emotional...	ORPHA:512
Holoprosencephaly 7	Omphalocele, Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Lo...	OMIM:610828
Gm2-Gangliosidosis, Ab Variant	Blindness	OMIM:272750
Congenital Myopathy 22A, Classic	Hip contracture, Achilles tendon contracture, Normal pressure hydrocephalus, Congenital finger fl...	OMIM:620351
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus	OMIM:276950
Fetal And Neonatal Alloimmune Thrombocytopenia	Blindness	ORPHA:853
Spondylocostal Dysostosis 4, Autosomal Recessive	Myelomeningocele, Spina bifida occulta, Short stature, Hydrocephalus	OMIM:613686
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Photophobia, Blindness	OMIM:148210
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Inguinal hernia, Short stature, Rhizomelia, Congenital diaphragmatic hernia, Hydrocephalus, Elbow...	OMIM:245600
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Facial palsy, Increased connective tissue, Flexion contracture, Cognitive impairment, Decreased b...	ORPHA:258
Shprintzen-Goldberg Craniosynostosis Syndrome	Inguinal hernia, Cryptorchidism, Hydrocephalus, Minimal subcutaneous fat, Camptodactyly, Umbilica...	OMIM:182212
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Hydrocephalus, Aganglionic megacolon	OMIM:239300
Peters Plus Syndrome	Inguinal hernia, Short stature, Rhizomelia, Postnatal growth retardation, Cryptorchidism, Hydroce...	ORPHA:709
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Growth delay, Hydrocephalus, Flexion contracture, Short stature	OMIM:616007
Otopalatodigital Syndrome Type 2	Omphalocele, Encephalocele, Camptodactyly of finger, Myelomeningocele, Hydrocephalus, Failure to ...	ORPHA:90652
Neonatal Lupus Erythematosus	Hydrocephalus	ORPHA:398124
Osteootohepatoenteric Syndrome	Hydrocephalus, Failure to thrive, Weight loss	OMIM:619377
Lenz-Majewski Hyperostotic Dwarfism	Inguinal hernia, Severe short stature, Femoral hernia, Abnormal dental enamel morphology, Facial ...	ORPHA:2658
Aymé-Gripp Syndrome	Inguinal hernia, Short stature, Congenital diaphragmatic hernia, Postnatal growth retardation, Cr...	ORPHA:1272
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Choroid plexus cyst, Ventriculomegaly	OMIM:617866
Apert Syndrome	Cryptorchidism, Hydrocephalus, Rhizomelic arm shortening, Agenesis of corpus callosum, Ventriculo...	OMIM:101200
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus, Aniridia, Short stature	ORPHA:1064
Neurooculorenal Syndrome	Aqueductal stenosis, Cryptorchidism, Partial agenesis of the corpus callosum, Hydrocephalus, Post...	OMIM:620305
Meckel Syndrome, Type 1	Omphalocele, Occipital encephalocele, Dilated fourth ventricle, Ventriculomegaly, Camptodactyly o...	OMIM:249000
Dubowitz Syndrome	Short stature, Postnatal growth retardation, Cryptorchidism, Hydrocephalus, Attention deficit hyp...	ORPHA:235
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hip contracture, Shoulder flexion contracture, Progressive neurologic deterioration, Cryptorchidi...	OMIM:210710
Fanconi Anemia	Aganglionic megacolon, Short stature, Spina bifida, Cryptorchidism, Hydrocephalus, Weight loss, G...	ORPHA:84
Arachnoiditis	Hydrocephalus	ORPHA:137817
Hajdu-Cheney Syndrome	Inguinal hernia, Short stature, Cryptorchidism, Hydrocephalus, Umbilical hernia, Failure to thriv...	OMIM:102500
Basal Cell Nevus Syndrome 2	Hydrocephalus, Neurofibroma	OMIM:620343
Cousin Syndrome	Rhizomelia, Hydrocephalus, Disproportionate short stature, Camptodactyly, Hydranencephaly, Joint ...	OMIM:260660
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Inguinal hernia, Camptodactyly of finger, Cryptorchidism, Umbilical ...	ORPHA:2462
Webb-Dattani Syndrome	Blindness	OMIM:615926
Thakker-Donnai Syndrome	Communicating hydrocephalus, Intrauterine growth retardation, Agenesis of corpus callosum, Congen...	ORPHA:1780
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocele testis, Hydrocephalus, Aganglionic megacolon, Ventriculomegaly	OMIM:613603
Holoprosencephaly-Postaxial Polydactyly Syndrome	Omphalocele, Encephalocele, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Umbilical hernia, C...	ORPHA:2166
Baller-Gerold Syndrome	Severe short stature, Short stature, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Severe...	OMIM:218600
Iniencephaly	Omphalocele, Encephalocele, Rhizomelia, Congenital diaphragmatic hernia, Spina bifida, Myelomenin...	ORPHA:63259
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:228308
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Septo-optic dysplasia, Short stature, Aplasia of the right hemidiaph...	OMIM:619841
Weill-Marchesani Syndrome 1	Blindness, High myopia	OMIM:277600
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Hajdu-Cheney Syndrome	Inguinal hernia, Short stature, Hydrocephalus, Hernia, Delayed puberty, Umbilical hernia, Failure...	ORPHA:955
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Short stature	ORPHA:1861
Short-Rib Thoracic Dysplasia 12	Omphalocele, Inguinal hernia, Hydrocephalus, Anencephaly, Holoprosencephaly, Intrauterine growth ...	OMIM:269860
Fanconi Anemia, Complementation Group R	Growth delay, Hydrocephalus	OMIM:617244
Carnitine Palmitoyltransferase Ii Deficiency	Hydrocephalus, Agenesis of corpus callosum	ORPHA:157
Neuroocular Syndrome	Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Short stature, Lens coloboma, A...	OMIM:619539
Saul-Wilson Syndrome	Nyctalopia	OMIM:618150
Microphthalmia, Syndromic 1	Blindness, Aganglionic megacolon, Optic disc coloboma, Ciliary body coloboma, Chorioretinal colob...	OMIM:309800
Oxoglutaric Aciduria	Hydrocephalus, Short stature	ORPHA:31
Icf Syndrome	Communicating hydrocephalus, Umbilical hernia, Short stature	ORPHA:2268
Cole-Carpenter Syndrome	Communicating hydrocephalus, Intrauterine growth retardation, Short stature, Abnormal dental enam...	ORPHA:2050
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hydrocephalus, Flexion contracture, Camptodactyly	OMIM:207410
Fraser Syndrome 1	Encephalocele, Myelomeningocele, Blindness, Hydrocephalus	OMIM:219000
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus, Hernia of the abdominal wall	ORPHA:2184
Achondroplasia	Hydrocephalus, Neonatal short-limb short stature, Rhizomelia	OMIM:100800
Mucopolysaccharidosis, Type Vi	Inguinal hernia, Short stature, Hydrocephalus, Flexion contracture, Disproportionate short-trunk ...	OMIM:253200
Wolf-Hirschhorn Syndrome	Small for gestational age, Short stature, Cryptorchidism, Hydrocephalus, Growth delay, Severe pos...	OMIM:194190
Pfeiffer Syndrome	Hydrocephalus	OMIM:101600
Trisomy 8P	Multiple joint contractures, Cryptorchidism, Hydrocephalus, Hernia, Agenesis of corpus callosum, ...	ORPHA:264450
Smith-Lemli-Opitz Syndrome	Aganglionic megacolon, Short stature, Cryptorchidism, Partial agenesis of the corpus callosum, Hy...	OMIM:270400
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydrocephalus	OMIM:314390
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus	ORPHA:93259
Weill-Marchesani Syndrome 2	Blindness, High myopia	OMIM:608328
Mucopolysaccharidosis, Type Iiid	Nyctalopia, Visual impairment	OMIM:252940
Spondyloepimetaphyseal Dysplasia, Krakow Type	Hydrocephalus, Rhizomelia, Elbow contracture, Knee flexion contracture	OMIM:618162
Isotretinoin-Like Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Inguinal hernia, Hydrocephalus	ORPHA:2306
Pentalogy Of Cantrell	Omphalocele, Encephalocele, Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly	ORPHA:1335
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Cryptorchidism, Hydrocephalus, Flexion contracture, Elbow flexion contracture, Decreased fertilit...	ORPHA:95699
Orofaciodigital Syndrome I	Short stature, Myelomeningocele, Hydrocephalus, Enamel hypoplasia, Agenesis of corpus callosum	OMIM:311200
Cogan Syndrome	Photophobia, Blindness, Reduced visual acuity	ORPHA:1467
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus, Cryptorchidism	ORPHA:1237
Leprosy	Blindness, Abnormality of the seventh cranial nerve, Enlarged peripheral nerve, Abnormal autonomi...	ORPHA:548
Raine Syndrome	Arthrogryposis multiplex congenita, Enamel hypoplasia, Short stature, Hydrocephalus	OMIM:259775
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Lipoatrophy, Small for gestational age, Short stature, Crypt...	OMIM:264090
Senior-Loken Syndrome 3	Visual loss, Congenital blindness	OMIM:606995
Mohr Syndrome	Hydrocephalus, Short stature	OMIM:252100
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Large for gestational age, Impaired social interactions, Slender bui...	ORPHA:457359
Townes-Brocks Syndrome 1	Small for gestational age, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Chorioretinal colobo...	OMIM:107480
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly	OMIM:219730
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Osteogenesis Imperfecta	Inguinal hernia, Small for gestational age, Abnormal dental enamel morphology, Short stature, Rhi...	ORPHA:666
Fetal Akinesia Deformation Sequence 1	Hip contracture, Small for gestational age, Elbow contracture, Camptodactyly of finger, Cryptorch...	OMIM:208150
Ciliary Dyskinesia, Primary, 1	Male infertility, Communicating hydrocephalus	OMIM:244400
Laurin-Sandrow Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:2378
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Umbilical hernia, Inguinal hernia, Ventriculomegaly	OMIM:618188
Neurofibromatosis, Type I	Short stature, Spina bifida, Aqueductal stenosis, Hydrocephalus, Neurofibroma, Pheochromocytoma, ...	OMIM:162200
Fanconi Anemia, Complementation Group L	Growth delay, Intrauterine growth retardation, Hydrocephalus, Attention deficit hyperactivity dis...	OMIM:614083
Renpenning Syndrome 1	Coloboma, Blindness, Hypermetropia	OMIM:309500
Basal Cell Nevus Syndrome 1	Hydrocephalus, Iris coloboma, Spina bifida	OMIM:109400
Acrofacial Dysostosis 1, Nager Type	Short stature, Aganglionic megacolon, Congenital diaphragmatic hernia, Aqueductal stenosis, Hydro...	OMIM:154400
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Fontaine Progeroid Syndrome	Reduced subcutaneous adipose tissue, Small for gestational age, Short stature, Cryptorchidism, Hy...	OMIM:612289
Corneodermatoosseous Syndrome	Photophobia, Nyctalopia, Hemeralopia	ORPHA:3194
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebral visual impairment, Visual loss, Astrocytosis, Gliosis, Abnormality of visual evoked pote...	OMIM:203700
Campomelic Dysplasia	Spina bifida, Contracture of the distal interphalangeal joint of the fingers, Hydrocephalus, Spin...	OMIM:114290
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Umbilical hernia, Hydrocephalus	OMIM:104350
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Hypoglycorrhachia, Postnatal growth retardation, Short stature	ORPHA:168577
Costello Syndrome	Short stature, Achilles tendon contracture, Hydrocephalus, Vestibular schwannoma, Failure to thri...	OMIM:218040
Limb Body Wall Complex	Ventral hernia, Encephalocele, Spina bifida, Congenital diaphragmatic hernia, Myelomeningocele, H...	ORPHA:2369
Thoracoabdominal Syndrome	Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly	OMIM:313850
Heterotaxy, Visceral, 1, X-Linked	Omphalocele, Aqueductal stenosis, Hydrocephalus, Myelomeningocele, Failure to thrive	OMIM:306955
Fraser Syndrome	Encephalocele, Myelomeningocele, Blindness	ORPHA:2052
Yunis-Varon Syndrome	Short stature, Postnatal growth retardation, Cryptorchidism, Hydrocephalus, Severe failure to thr...	ORPHA:3472
Pseudoaminopterin Syndrome	Posterolateral diaphragmatic hernia, Inguinal hernia, Short stature, Cryptorchidism, Hydrocephalus	ORPHA:221120
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Cryptorchidism, Hydrocephalus, Short stature	ORPHA:163979
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Sacral lipoma	OMIM:600145
Dextrocardia	Hydrocephalus	ORPHA:1666
Alström Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Blindness, Retinal pigment epithelial atrophy, Retina...	ORPHA:64
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Lethal Omphalocele-Cleft Palate Syndrome	Omphalocele, Hydrocephalus	ORPHA:2736
Sarcoidosis	Eosinophilia, Blindness, Facial palsy	ORPHA:797
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Ventriculomegaly, Large for gestational age	OMIM:617011
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Lhermitte-Duclos Disease	Hydrocephalus	ORPHA:65285
Hepatoerythropoietic Porphyria	Blindness	ORPHA:95159
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Short stature, Bilateral cryptorchidism, Hydrocephalus, Flexion contracture, Hyp...	ORPHA:3042
Gaucher Disease, Type Iiic	Hydrocephalus	OMIM:231005
Congenital Erythropoietic Porphyria	Blindness	ORPHA:79277
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Short stature, Hydrocephalus, Schwannoma, Attention deficit hyperactivity disorder, Subcutaneous ...	ORPHA:363700
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Kabuki Syndrome 1	Short stature, Postnatal growth retardation, Cryptorchidism, Hydrocephalus, Growth delay, Lateral...	OMIM:147920
Fraser Syndrome 3	Hydrocephalus	OMIM:617667
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Photophobia, Visual loss, Blindness	ORPHA:95455
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inguinal hernia, Short stature, Aqueductal stenosis, Hydrocephalus, Coloboma, Lateral ventricle d...	OMIM:619534
Glycogen Storage Disease Of Heart, Lethal Congenital	Hydrocephalus	OMIM:261740
Menke-Hennekam Syndrome 1	Blindness, Hypermetropia	OMIM:618332
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus	ORPHA:137667
Exstrophy-Epispadias Complex	Omphalocele, Inguinal hernia, Spina bifida, Cryptorchidism, Hydrocephalus, Cystocele, Male sexual...	ORPHA:322
Coffin-Siris Syndrome 12	Short stature, Facial palsy, Cryptorchidism, Noncommunicating hydrocephalus, Failure to thrive	OMIM:619325
Otopalatodigital Syndrome, Type Ii	Omphalocele, Short stature, Elbow contracture, Spina bifida, Postnatal growth retardation, Crypto...	OMIM:304120
Split Cord Malformation	Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Lipoma	ORPHA:573278
Hypoplasminogenemia	Cervicitis, Hydrocephalus, Dandy-Walker malformation	ORPHA:722
Roberts-Sc Phocomelia Syndrome	Ankle flexion contracture, Postnatal growth retardation, Cryptorchidism, Hydrocephalus, Frontal e...	OMIM:268300
Hydrolethalus Syndrome 1	Omphalocele, Anencephaly, Severe hydrocephalus, Intrauterine growth retardation, Agenesis of corp...	OMIM:236680
Oeis Complex	Omphalocele, Cryptorchidism, Myelomeningocele, Hydrocephalus	OMIM:258040
Simpson-Golabi-Behmel Syndrome, Type 1	Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Hydrocephalus, Umbilical hernia...	OMIM:312870
Loeys-Dietz Syndrome 2	Inguinal hernia, Hydrocephalus, Camptodactyly, Umbilical hernia, Joint contracture of the hand	OMIM:610168
Loeys-Dietz Syndrome 1	Hydrocephalus, Camptodactyly	OMIM:609192
Tetraamelia Syndrome 1	Hydrocephalus, Congenital diaphragmatic hernia	OMIM:273395
Craniofacial Microsomia 1	Occipital encephalocele, Hydrocephalus, Agenesis of corpus callosum	OMIM:164210

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 Nr2e1

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 Nr2e1.

No publications found that use IMPC mice or data for Nr2e1.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Nr2e1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Nr2e1^{tm41228(L1L2_gt1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Nr2e1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

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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