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Gene: Stra6 MGI:107742

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

stimulated by retinoic acid gene 6

Synonyms:

N/A

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Stra6 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 Stra6 (2 diseases)
Human diseases predicted to be associated with Stra6 (1801 diseases)

The table below shows human diseases associated to Stra6 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Matthew-Wood Syndrome		Microphthalmia, Anophthalmia	ORPHA:2470
Microphthalmia, Syndromic 9		Anophthalmia, Bilateral microphthalmos	OMIM:601186

The table below shows human diseases predicted to be associated to Stra6 by phenotypic similarity.

Disease	Matching phenotypes	Source
Fructosuria, Essential	Impairment of fructose metabolism	OMIM:229800
Carpal Tunnel Syndrome 1	Reduced circulating vitamin B6 level	OMIM:115430
Sorsby Pseudoinflammatory Fundus Dystrophy	Blindness, Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Lar...	ORPHA:59181
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Retinitis Pigmentosa 42	Reduced visual acuity, Perifoveal ring of hyperautofluorescence, Peripapillary atrophy, Rod-cone ...	OMIM:612943
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Metamorphopsia, Choroidal neovascularization, Amblyopia, Retinal pigment...	ORPHA:97341
Osteoporosis, Juvenile	Low serum calcitriol	OMIM:259750
Bietti Crystalline Dystrophy	Blindness, Retinal pigment epithelial atrophy, Retinal thinning, Large central visual field defec...	ORPHA:41751
Choroideremia	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Chorioretinal d...	OMIM:303100
Macular Dystrophy, Retinal, 2	Retinal pigment epithelial atrophy, Central scotoma, Granular macular appearance, Reduced visual ...	OMIM:608051
Stargardt Disease 3	Macular flecks, Macular atrophy, Reduced visual acuity, Macular dystrophy, Visual impairment	OMIM:600110
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Blindness, Macular ...	OMIM:613750
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Blindness, Nyctalopi...	OMIM:180210
Macular Dystrophy, Patterned, 3	Reduced visual acuity, Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy	OMIM:617111
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Reduced visual acu...	OMIM:612712
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Blindness, Constriction of peripheral...	OMIM:600138
Macular Dystrophy, Patterned, 2	Drusen, Pattern dystrophy of the retina, Reduced visual acuity, Foveal hyperpigmentation	OMIM:608970
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Blindness, Visual loss, Optic atrophy, Cerebral atrophy, Pigmentary retinopat...	OMIM:610951
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c...	ORPHA:231736
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Large central visual...	ORPHA:85128
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia, Vis...	ORPHA:1852
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Co...	OMIM:616544
Megalencephaly, Autosomal Dominant	Hydrocephalus, Macrocephaly	OMIM:155350
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Blindness, Nyctalopia, Reduced visual a...	OMIM:613731
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Nyctalopia, Optic atrophy, Chorioretinal atrophy, Rod-co...	OMIM:607921
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Visual field defect, Rod-cone dystrophy, Visual impairme...	OMIM:613809
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Blindness, Macular atrophy, Nyctalopia, Progressive visu...	OMIM:617781
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Myopia, Pericentral scotoma, Macular atrophy, Scotoma, N...	OMIM:620342
Macular Dystrophy, Vitelliform, 2	Reduced visual acuity, Subretinal fluid, Cystoid macular degeneration, Macular dystrophy, Visual ...	OMIM:153700
Macular Dystrophy, Vitelliform, 5	Moderately reduced visual acuity, Central scotoma, Reduced visual acuity, Vitelliform-like macula...	OMIM:616152
Macular Dystrophy, Retinal, 1, North Carolina Type	Peripheral retinal atrophy, Drusen, Central scotoma, Reduced visual acuity, Abnormality of macula...	OMIM:136550
Retinitis Pigmentosa Inversa With Deafness	Blindness, Rod-cone dystrophy, Retinitis pigmentosa inversa	OMIM:268010
Retinitis Pigmentosa 29	Blindness, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:612165
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation, Metamorphopsia	OMIM:233800
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Retinopathy, Visual impairment	ORPHA:1995
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Nyctalopia, R...	OMIM:614181
Optic Atrophy 9	Optic disc pallor, Red-green dyschromatopsia, Optic atrophy, Reduced visual acuity, Paracentral s...	OMIM:616289
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Scotoma, Chorioretinal degeneration, Visual loss,...	OMIM:605670
Retinitis Pigmentosa 47	Nyctalopia, Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Visual impairment	OMIM:613758
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Central scotoma, Reduced visual acu...	OMIM:600977
Leber Congenital Amaurosis 12	Congenital blindness, Abnormality of macular pigmentation	OMIM:610612
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal thinnin...	OMIM:617123
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:610359
Macular Dystrophy, Retinal, 3	Macular drusen, Retinal pigment epithelial atrophy, Central scotoma, Reduced visual acuity, Color...	OMIM:608850
Cone-Rod Dystrophy, X-Linked, 1	Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Nyctalopia, Redu...	OMIM:304020
Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome	Severely reduced visual acuity, Rod-cone dystrophy	ORPHA:3011
Sorsby Fundus Dystrophy	Macular dystrophy, Blindness, Chorioretinal atrophy	OMIM:136900
Macular Dystrophy, Patterned, 1	Metamorphopsia, Choroidal neovascularization, Nyctalopia, Absent foveal reflex, Reduced visual ac...	OMIM:169150
Retinitis Pigmentosa 68	Bone spicule pigmentation of the retina, Retinal atrophy, Nyctalopia, Reduced visual acuity, Visu...	OMIM:615725
Retinitis Pigmentosa 54	Bone spicule pigmentation of the retina, Fundus atrophy, Nyctalopia, Rod-cone dystrophy, Visual i...	OMIM:613428
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ph...	OMIM:609913
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina, Visual field defect	OMIM:610445
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Nyctalopia, Rod-cone dystrophy, Visual impairment, Atten...	OMIM:614180
Choroideremia	Abnormality of retinal pigmentation, Myopia, Nyctalopia, Abnormality of vision, Progressive visua...	ORPHA:180
Retinopathy Of Prematurity	Tractional retinal detachment, Blindness, Retinal arteriolar tortuosity, Abnormal retinal vascula...	ORPHA:90050
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:617871
Senior-Loken Syndrome 6	Rod-cone dystrophy, Reduced visual acuity, Visual impairment	OMIM:610189
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz...	OMIM:614500
Macular Degeneration, Early-Onset	Macular degeneration, Choroidal neovascularization, Reduced visual acuity	OMIM:616118
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Constriction of peri...	OMIM:619007
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:613582
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Nyctalopia, Photophobia, Rod-cone dystrophy, Color visio...	OMIM:600852
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Macular dystrophy, Blindness, Reduced visual acuity	OMIM:601553
Cone Rod Dystrophy	Abnormality of retinal pigmentation, Nyctalopia, Photophobia, Visual impairment, Color vision defect	ORPHA:1872
Progressive Cone Dystrophy	Photophobia, Abnormality of retinal pigmentation, Visual impairment, Color vision defect	ORPHA:1871
Retinitis Pigmentosa 7	Constriction of peripheral visual field, Nyctalopia, Adult-onset night blindness, Chorioretinal a...	OMIM:608133
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Macular Dystrophy, Vitelliform, 4	Drusen, Macular dystrophy, Vitelliform-like macular lesions, Moderately reduced visual acuity	OMIM:616151
Achromatopsia	Hypoplasia of the fovea, Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial m...	ORPHA:49382
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C...	OMIM:601718
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Microcephaly 19, Primary, Autosomal Recessive	Failure to thrive in infancy, Microcephaly, Extra-axial cerebrospinal fluid accumulation, Decreas...	OMIM:617800
Neuropathy, Ataxia, And Retinitis Pigmentosa	Blindness, Retinal pigment epithelial mottling, Corticospinal tract atrophy, Rod-cone dystrophy, ...	OMIM:551500
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Myopia, Optic atrophy, Visual impairment	ORPHA:1574
Stargardt Disease 4	Macular degeneration, Retinal flecks, Reduced visual acuity	OMIM:603786
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Myopia, Constriction of peripheral vi...	OMIM:180100
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Visual impairment	ORPHA:1178
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation, Type II diabetes mellitus	ORPHA:2579
Retinitis Pigmentosa 69	Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Pigmentary retinopath...	OMIM:615780
Blue Cone Monochromatism	Blue cone monochromacy, Abnormality of retinal pigmentation, Photophobia, Visual impairment	ORPHA:16
Leber Congenital Amaurosis 2	Optic disc pallor, Blindness, Fundus atrophy, Nyctalopia, Absent foveal reflex, Reduced visual ac...	OMIM:204100
Leber Hereditary Optic Neuropathy, Autosomal Recessive 1	Retinal telangiectasia, Retinal nerve fiber edema, Central scotoma, Central retinal vessel vascul...	OMIM:619382
Macular Dystrophy, Vitelliform, 1	Reduced visual acuity, Visual field defect, Vitelliform-like macular lesions, Macular dystrophy, ...	OMIM:153840
Macular Dystrophy, Vitelliform, 3	Metamorphopsia, Choroidal neovascularization, Macular atrophy, Drusen, Reduced visual acuity, Pho...	OMIM:608161
Nanophthalmos	Abnormality of retinal pigmentation, High hypermetropia, Abnormal choroid morphology	ORPHA:35612
Retinitis Pigmentosa 70	Optic disc pallor, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Ma...	OMIM:615922
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Optic disc pallor, Blindness, Macular atrophy, Nyctalopia, Reduced visua...	OMIM:604393
Retinitis Pigmentosa 35	Blindness, Rod-cone dystrophy, Reduced visual acuity, Nyctalopia	OMIM:610282
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Macular Degeneration, Atrophic, X-Linked	Macular degeneration, Reduced visual acuity	OMIM:300834
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Myopia, Retinal thinning, Nyctalopia, Reduced visual acuity,...	ORPHA:215
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:617460
Retinitis Pigmentosa 40	Nyctalopia, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal b...	OMIM:613801
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Macular atrophy...	OMIM:180104
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal thinnin...	OMIM:620228
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Visual impairment	ORPHA:2246
Pernicious Anemia	Malabsorption of Vitamin B12	OMIM:170900
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:606068
Cone-Rod Dystrophy 22	Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ...	OMIM:619531
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Reduced visual acuity, Photophobia, Peripapillary atrophy, H...	OMIM:617879
Retinitis Pigmentosa 2	Pericentral scotoma, Myopia, Constriction of peripheral visual field, Ring scotoma, Bull's eye ma...	OMIM:312600
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:620102
Cone-Rod Dystrophy 15	Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Nyctalopia, Photopho...	OMIM:613660
Retinitis Pigmentosa 63	Optic disc pallor, Nyctalopia, Rod-cone dystrophy, Blurred vision	OMIM:614494
Mental Retardation With Optic Atrophy, Deafness, And Seizures	Blindness, Optic atrophy, Severely reduced visual acuity	OMIM:309555
Newfoundland Rod-Cone Dystrophy	Retinal dystrophy, Scotoma, Nyctalopia, Visual impairment, Color vision defect	OMIM:607476
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Constriction of peripheral visual field, Retinal pigment epithelial mott...	OMIM:610478
Retinitis Pigmentosa 38	Optic disc pallor, Constriction of peripheral visual field, Peripheral retinal atrophy, Macular a...	OMIM:613862
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly, Macrocephaly	OMIM:615938
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Retinal dystrophy, Peripheral retinal atrophy, Nyctalopia, Absent foveal reflex, Reduced visual a...	OMIM:615147
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Ring scotoma, N...	OMIM:300029
Retinitis Pigmentosa 71	Optic disc pallor, Nyctalopia, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-c...	OMIM:616394
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:611040
Cone-Rod Dystrophy 12	Cone/cone-rod dystrophy, Bull's eye maculopathy, Central scotoma, Nyctalopia, Reduced visual acui...	OMIM:612657
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Nyctalopia, Pigmentary retinopathy	OMIM:179840
Retinitis Pigmentosa 78	Optic disc pallor, Photopsia, Nyctalopia, Reduced visual acuity, Visual field defect, Cystoid mac...	OMIM:617433
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Usher Syndrome, Type Iv	Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field...	OMIM:618144
Progressive Bifocal Chorioretinal Atrophy	Myopia, Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy, Visual impairment	ORPHA:75373
Retinitis Pigmentosa 92	Constriction of peripheral visual field, Nyctalopia, Paracentral scotoma, Pigmentary retinopathy,...	OMIM:619614
Optic Atrophy 13 With Retinal And Foveal Abnormalities	Optic atrophy, Reduced visual acuity, Attenuation of retinal blood vessels	OMIM:165510
Retinitis Pigmentosa 20	Nyctalopia, Severely reduced visual acuity, Rod-cone dystrophy, Visual impairment, Attenuation of...	OMIM:613794
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Nyctalopia, Reduced visual acuity, Retinal flecks, Rod-con...	OMIM:613194
Ceroid Lipofuscinosis, Neuronal, 3	Blindness, Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescen...	OMIM:204200
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ma...	OMIM:618826
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Nyctalopia, Visual ac...	OMIM:618220
Cone-Rod Dystrophy 21	Retinal dystrophy, Macular atrophy, Nyctalopia, Reduced visual acuity, Photophobia	OMIM:616502
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:615990
Retinitis Pigmentosa 18	Scotoma, Nyctalopia, Progressive visual field defects, Retinal arteriolar constriction, Rod-cone ...	OMIM:601414
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities	Optic disc pallor, Retinal dystrophy, Central scotoma, Nyctalopia, Reduced visual acuity, Photoph...	OMIM:616079
Macular Dystrophy, Retinal, 4	Reduced OCT-measured foveal thickness, Nyctalopia, Choroidal neovascularization, Reduced visual a...	OMIM:619977
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy	Optic disc pallor, Optic atrophy, Reduced visual acuity, Color vision defect	OMIM:618511
Cone-Rod Dystrophy 13	Cone/cone-rod dystrophy, Reduced visual acuity, Photophobia, Macular degeneration, Visual impairm...	OMIM:608194
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Constriction...	OMIM:615973
Retinitis Pigmentosa 6	Constriction of peripheral visual field, Chorioretinal degeneration, Nyctalopia, Pigmentary retin...	OMIM:312612
Bothnia Retinal Dystrophy	Macular degeneration, Nyctalopia, Retinal dystrophy	OMIM:607475
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment...	OMIM:618889
Retinitis Pigmentosa 85	Progressive night blindness, Rod-cone dystrophy, Reduced visual acuity	OMIM:618345
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly, Macrocephaly	OMIM:611808
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c...	OMIM:120200
Fructose And Galactose Intolerance	Fructose intolerance, Galactose intolerance	OMIM:229500
Cone Dystrophy 3	Cone/cone-rod dystrophy, Macular atrophy, Reduced visual acuity, Photophobia, Progressive visual ...	OMIM:602093
Leber Congenital Amaurosis 1	Blindness, Fundus atrophy, Nyctalopia, Reduced visual acuity, Optic disc drusen, Photophobia, Pig...	OMIM:204000
Achromatopsia 7	Hypoplasia of the fovea, Macular atrophy, Central scotoma, Absent foveal reflex, Reduced visual a...	OMIM:616517
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly, Macrocephaly	OMIM:615937
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Nyctalopia, Opt...	OMIM:600059
Exudative Vitreoretinopathy 5	Reduced visual acuity, Exudative vitreoretinopathy, Falciform retinal fold, Visual impairment, Re...	OMIM:613310
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Central Retinal Vein Occlusion	Papilledema, Large central visual field defect, Epiretinal membrane, Visual loss, Intraretinal he...	ORPHA:411527
Retinal Capillary Malformation	Myopia, Blindness, Subretinal exudate, Central fundal arteriolar microaneurysms, Photopsia, Vitre...	ORPHA:71213
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Reduced visual acuity, Chorioretinal dysplasia, Visual impairment	OMIM:616335
Exudative Vitreoretinopathy 3	Retinal detachment, Reduced visual acuity, Retinal exudate, Exudative vitreoretinopathy, Retinal ...	OMIM:605750
Usher Syndrome, Type Iiia	Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Visual field defect	OMIM:276902
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Hi...	OMIM:600105
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
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Retinal degeneration	OMIM:251700
Retinal Cone Dystrophy 3B	Cone/cone-rod dystrophy, Myopia, Scotoma, Macular atrophy, Nyctalopia, Reduced visual acuity, Pho...	OMIM:610356
Adult-Onset Foveomacular Vitelliform Dystrophy	Visual field defect, Retinal nonattachment, Abnormality of vision, Vitelliform-like macular lesio...	ORPHA:99000
Ceroid Lipofuscinosis, Neuronal, 1	Blindness, Increased neuronal autofluorescent lipopigment, Optic atrophy, Cerebral atrophy, Macul...	OMIM:256730
Optic Atrophy 3, Autosomal Dominant	Reduced visual acuity, Optic disc pallor, Optic atrophy, Scotoma	OMIM:165300
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Maternal Uniparental Disomy Of Chromosome 4	Nyctalopia, Decreased circulating vitamin E concentration, Optic atrophy, Visual field defect, Pi...	ORPHA:96180
Leber Congenital Amaurosis 14	Optic disc pallor, Retinal dystrophy, Nyctalopia, Reduced visual acuity, Photophobia, Congenital ...	OMIM:613341
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Microphthalmia, Isolated, With Coloboma 10	Anophthalmia, Optic pit, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:616428
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia, Deuteranopia, Amblyopia, High myopia...	OMIM:300843
Retinitis Pigmentosa	Constriction of peripheral visual field, Rod-cone dystrophy, Abnormality of fundus pigmentation, ...	OMIM:268000
Cone Dystrophy 4	Cone/cone-rod dystrophy, Reduced visual acuity, Absent foveal reflex, Photophobia, Dyschromatopsi...	OMIM:613093
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Constriction of peripheral visual field, Macular atrophy, Nyctalopia, Hypermetropia, Cystoid macu...	OMIM:267760
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
Fleck Retina, Familial Benign	Nyctalopia, Retinal flecks, Visual impairment	OMIM:228980
Prolonged Electroretinal Response Suppression 2	Mildly reduced visual acuity, Difficulty adjusting to changes in luminance, Reduced visual acuity...	OMIM:620344
Cavitary Optic Disc Anomalies	Nyctalopia, Peripapillary atrophy, Reduced visual acuity, Visual field defect	OMIM:611543
Macular Dystrophy With Central Cone Involvement	Optic disc pallor, Bull's eye maculopathy, Central scotoma, Red-green dyschromatopsia, Reduced vi...	OMIM:616170
Premature Ovarian Failure 12	Macular dystrophy, Microphthalmia	OMIM:616947
Fundus Albipunctatus	Nyctalopia, Retinal flecks, Fundus albipunctatus	OMIM:136880
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, N...	OMIM:616108
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Retinal dysplasia	OMIM:615041
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy, Hyp...	OMIM:172870
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Visual loss, Central scotoma,...	OMIM:604116
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field...	OMIM:617304
Retinitis Pigmentosa 51	Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, High myopia, Photopho...	OMIM:613464
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Reduced visual acuity, Retinal pigment epithelial mottling, Central retinal vessel vascular tortu...	ORPHA:506353
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Vitreous floate...	OMIM:618173
Bestrophinopathy, Autosomal Recessive	Hypermetropia, Retinal pigment epithelial atrophy, Reduced visual acuity, Retinal flecks	OMIM:611809
Leber Congenital Amaurosis 19	Optic disc pallor, Visual impairment, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Bardet-Biedl Syndrome 21	Cone/cone-rod dystrophy, Hypoplasia of the fovea, Myopia, Retinal atrophy, Retinal thinning, Blin...	OMIM:617406
Exudative Vitreoretinopathy 1	Retinal detachment, Blindness, Peripheral retinal avascularization, Vitreous floaters, Reduced vi...	OMIM:133780
Retinal Cone Dystrophy 1	Cone/cone-rod dystrophy, Bull's eye maculopathy, Photophobia, Progressive visual loss, Retinal de...	OMIM:180020
Wolfram-Like Syndrome, Autosomal Dominant	Optic disc pallor, Blind-spot enlargment, Optic atrophy, Reduced visual acuity, Severely reduced ...	OMIM:614296
Cone-Rod Dystrophy, X-Linked, 3	Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Myopia, Central scotoma, Absent f...	OMIM:300476
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system	OMIM:257910
Narp Syndrome	Optic disc pallor, Abnormal visual field test, Blindness, Constriction of peripheral visual field...	ORPHA:644
Late-Onset Retinal Degeneration	Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus...	ORPHA:67042
Leber Congenital Amaurosis 16	Optic disc pallor, Nyctalopia, Reduced visual acuity, Visual field defect, Photophobia, Visual im...	OMIM:614186
Optic Atrophy 12	Optic disc pallor, Optic atrophy, Reduced visual acuity, Photophobia, Dyschromatopsia, Abnormal I...	OMIM:618977
Blue Cone Monochromacy	Blue cone monochromacy, Myopia, Reduced visual acuity, Photophobia, Abnormality of macular pigmen...	OMIM:303700
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Birdshot Chorioretinopathy	Arcuate scotoma, Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroi...	ORPHA:179
Exudative Vitreoretinopathy 4	Blindness, Peripheral retinal avascularization, Reduced visual acuity, Posterior vitreous detachm...	OMIM:601813
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Blindness, Nyctalopia, Peripheral v...	OMIM:605549
Diamond-Blackfan Anemia 9	Low levels of vitamin D	OMIM:613308
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l...	OMIM:612095
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Macrocephaly, Hydrocephalus, Ventriculomegaly, Microcephaly	OMIM:618709
Osteoporosis-Pseudoglioma Syndrome	Low serum calcitriol, Retinal detachment, Moderately reduced visual acuity, Visual acuity light p...	ORPHA:2788
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Reduced visual acuity, Macular edema, Photo...	ORPHA:209943
Ceroid Lipofuscinosis, Neuronal, 6A	Increased neuronal autofluorescent lipopigment, Progressive visual loss, Retinal degeneration	OMIM:601780
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Pe...	OMIM:613756
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Retinal Dystrophy And Obesity	Retinal detachment, Myopia, Retinal pigment epithelial atrophy, Retinal dystrophy, Reduced visual...	OMIM:616188
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:180105
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:615233
Acute Zonal Occult Outer Retinopathy	Blind-spot enlargment, Vitritis, Myopia, Retinal pigment epithelial mottling, Hemianopia, Rod-con...	ORPHA:284454
Nephronophthisis 15	Blindness, Retinal degeneration	OMIM:614845
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l...	OMIM:613617
Spinocerebellar Ataxia, Autosomal Recessive 29	Cerebellar atrophy, Optic disc pallor, Corpus callosum atrophy, Retinal pigment epithelial mottli...	OMIM:619389
Chromosome 16Q12 Duplication Syndrome	Retinal pigment epithelial mottling, Nyctalopia, Reduced visual acuity, High myopia, Anisocoria, ...	OMIM:619649
Temporal Arteritis	Blindness, Retinal arteritis	OMIM:187360
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Blindness, Optic atrophy	ORPHA:2787
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa	Absent retinal pigment epithelium, Nyctalopia, Abnormal fundus morphology, Abnormal optic nerve m...	ORPHA:436274
Oculocutaneous Albinism Type 6	Abnormal iris pigmentation, Reduced visual acuity, Abnormal fundus morphology, Abnormal foveal mo...	ORPHA:370097
Chorioretinal Atrophy, Progressive Bifocal	Retinal detachment, Chorioretinal dystrophy, Myopia, Chorioretinal atrophy, Visual impairment	OMIM:600790
Morm Syndrome	Retinal atrophy, Retinal dystrophy, Photophobia, Progressive night blindness, Visual impairment	ORPHA:75858
Usher Syndrome, Type 1M	Drusen, Optic disc pallor, Nyctalopia	OMIM:618632
Vitreoretinopathy, Neovascular Inflammatory	Retinal detachment, Peripheral retinal neovascularization, Blindness, Large hyperpigmented retina...	OMIM:193235
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C...	OMIM:613983
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Vitreoretinochoroidopathy	Retinal detachment, Blindness, Nyctalopia, Retinal arteriolar occlusion, Vitreous hemorrhage, Pig...	OMIM:193220
Leber Congenital Amaurosis 8	Macular coloboma, Chorioretinal atrophy, Reduced visual acuity, Nummular pigmentation of the fund...	OMIM:613835
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Pericentral scotoma, Peripheral retinal degeneration,...	OMIM:609021
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy, Hypermetropia	OMIM:268060
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Neovascular Glaucoma	Retinal detachment, Abnormal posterior eye segment morphology, Iris neovascularization, Retinal v...	ORPHA:94058
Night Blindness, Congenital Stationary, Type 1F	Retinal perforation, Nyctalopia, Reduced visual acuity, High myopia, Congenital stationary night ...	OMIM:615058
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:616469
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency	Ventriculomegaly, Microcephaly	ORPHA:329228
Oculocutaneous Albinism, Type Viii	Hypoplasia of the fovea, Hypopigmentation of hair, Reduced visual acuity, Photophobia, Iris trans...	OMIM:619165
Nanophthalmos 4	Microphthalmia, Optic disc drusen	OMIM:615972
Severe Early-Childhood-Onset Retinal Dystrophy	Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Photophobia, Retinal ...	ORPHA:364055
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:611638
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Nyctalopia, Ch...	OMIM:601777
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:602772
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Central scotoma, Nyctalopi...	ORPHA:52427
Retinal Cone Dystrophy 3A	Cone dystrophy, Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Dyschromatopsia	OMIM:610024
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph...	OMIM:143200
Gyrate Atrophy Of Choroid And Retina	Myopia, Blindness, Nyctalopia, Foveoschisis, Chorioretinal atrophy, Macular thickening, Visual im...	OMIM:258870
Retinitis Pigmentosa 87 With Choroidal Involvement	Bone spicule pigmentation of the retina, Chorioretinal atrophy, Peripheral visual field loss, Num...	OMIM:618697
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:600132
Hypercholanemia, Familial, 2	Low levels of vitamin D	OMIM:619256
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Cerebellar atrophy, Pigmentary retinopathy, Cerebral atrophy	OMIM:619090
Chromosome Xq21 Deletion Syndrome	Constriction of peripheral visual field, Chorioretinal degeneration, Nyctalopia, Chorioretinal at...	OMIM:303110
Cone-Rod Dystrophy 18	Cone/cone-rod dystrophy, Central scotoma, Reduced visual acuity, High myopia, Foveal hyperpigment...	OMIM:615374
Cone-Rod Dystrophy 10	Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Photophobia, M...	OMIM:610283
Retinitis Pigmentosa 37	Constriction of peripheral visual field, Red-green dyschromatopsia, Nyctalopia, Reduced visual ac...	OMIM:611131
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:613581
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation, Myopia, Facial palsy	ORPHA:2743
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l...	OMIM:613810
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Nyctalopia, Retinal dystrophy, Reduced visual acuity	OMIM:610156
Retinitis Pigmentosa	Abnormality of retinal pigmentation, Blindness, Abnormal retinal vascular morphology, Optic atrop...	ORPHA:791
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormality of retinal pigmentation, Myopia, Abnormal retinal vascular morphology, Nyctalopia, He...	ORPHA:1390
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy, Progressive visual loss, Visual impairment	ORPHA:3156
Retinitis Pigmentosa 46	Optic disc pallor, Constriction of peripheral visual field, Pigmentary retinopathy, Rod-cone dyst...	OMIM:612572
Retinitis Pigmentosa 45	Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Macular degene...	OMIM:613767
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation, Macrocephaly	OMIM:607091
Gyrate Atrophy Of Choroid And Retina	Myopia, Blindness, Constriction of peripheral visual field, Chorioretinal degeneration, Chorioret...	ORPHA:414
Oliver-Mcfarlane Syndrome	Pigmentary retinopathy, Central heterochromia, Retinal degeneration	OMIM:275400
Canavan Disease	Abnormality of retinal pigmentation, Blindness, Optic atrophy, Visual impairment	ORPHA:141
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation, Myopia, Iris coloboma	ORPHA:1259
Porencephaly	Ventriculomegaly	ORPHA:2940
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Retinal detachment, Congenital blindness	ORPHA:436182
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
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
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ma...	OMIM:618195
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Amblyopia	ORPHA:35737
Bardet-Biedl Syndrome 4	Nyctalopia, Rod-cone dystrophy, Retinal degeneration	OMIM:615982
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Retinitis Pigmentosa 93	Rod-cone dystrophy, Constriction of peripheral visual field, Retinal dots, Reduced visual acuity	OMIM:619845
Cerebral Palsy, Spastic Quadriplegic, 2	Ventriculomegaly	OMIM:612900
Eem Syndrome	Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy, Abnormality of vision	ORPHA:1897
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Photophobia, Visual impairment, Color vision ...	ORPHA:1873
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation, High myopia	ORPHA:1117
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Nyctalopia, Rod-cone dystrophy, Visual impairment	OMIM:600151
Congenital Glaucoma	Visual loss, Retinal detachment	ORPHA:98976
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus, Macrocephaly	ORPHA:99966
Idiopathic Panuveitis	Blindness, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, R...	ORPHA:280921
Spastic Paraplegia 82, Autosomal Recessive	Optic atrophy, Reduced visual acuity, Cerebral atrophy	OMIM:618770
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia, Coloboma	OMIM:251505
Optic Atrophy 1	Central scotoma, Red-green dyschromatopsia, Optic atrophy, Reduced visual acuity, Centrocecal sco...	OMIM:165500
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Remnants of the hyaloid vascular system, Phthisis bulbi, Buphthalmos, Retinal nonattachment, Micr...	OMIM:221900
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Albinism, Oculocutaneous, Type Vi	Hypoplasia of the fovea, Reduced visual acuity, Photophobia, Generalized hypopigmentation, Fair h...	OMIM:113750
Imerslund-Grasbeck Syndrome 2	Vitamin B12 deficiency	OMIM:618882
Blindness-Scoliosis-Arachnodactyly Syndrome	Visual loss, Retinal detachment, Blindness, Abnormality of retinal pigmentation	ORPHA:171844
Abetalipoproteinemia	Abnormality of retinal pigmentation, Blindness, Scotoma, Nyctalopia, Decreased circulating vitami...	ORPHA:14
Chromosome Xp11.3 Deletion Syndrome	Moderate myopia, Blindness, Constriction of peripheral visual field, Nyctalopia, Optic atrophy, P...	OMIM:300578
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ...	OMIM:305390
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Hypotrichosis With Juvenile Macular Degeneration	Blindness, Melanocytic nevus, Macular degeneration, Abnormality of macular pigmentation, Freckling	ORPHA:1573
Bardet-Biedl Syndrome 5	Macular dystrophy, Rod-cone dystrophy, Reduced visual acuity	OMIM:615983
Retinitis Pigmentosa 75	Myopia, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Rod-co...	OMIM:617023
Spinocerebellar Ataxia 7	Macular degeneration, Optic atrophy, Pigmentary retinopathy, Progressive visual loss	OMIM:164500
Diprosopus	Abnormality of vision, Abnormality of retinal pigmentation	ORPHA:1681
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology, Severely reduced visual acuity	ORPHA:65
Edinburgh Malformation Syndrome	Hydrocephalus, Failure to thrive	OMIM:129850
Åland Islands Eye Disease	Hypoplasia of the fovea, Myopia, Difficulty adjusting from light to dark, Reduced visual acuity, ...	ORPHA:178333
Retinal Dystrophy With Or Without Macular Staphyloma	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ...	OMIM:617547
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Constriction of peripheral visual field, Retinal degeneration	OMIM:520000
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin...	OMIM:145350
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Photophobia, Optic disc pallor, Retinal thinning, Reduced visual acuity	OMIM:618970
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Abnormality of retinal pigmentation, Myopia, Macular coloboma, Chorioretinal coloboma	ORPHA:2196
Spastic Paraplegia 81, Autosomal Recessive	Retinal vascular tortuosity, Optic atrophy, Reduced visual acuity, Cerebral visual impairment	OMIM:618768
Sandhoff Disease	Cherry red spot of the macula, Blindness	ORPHA:796
Cone-Rod Dystrophy 19	Cone/cone-rod dystrophy, Perifoveal ring of hyperautofluorescence, Reduced visual acuity, High my...	OMIM:615860
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Blindness, Ring scotoma, Decreased sensory nerve conduct...	OMIM:609033
Cofs Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortical atrophy, Visual impairment	ORPHA:1466
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Pigmentary retinopathy, Myopia, Retinal degeneration	ORPHA:3363
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Failure to thrive, Microcephaly	ORPHA:26
Atypical Pantothenate Kinase-Associated Neurodegeneration	Retinopathy, Blindness, Optic atrophy	ORPHA:216873
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Blindness, Reduced visual acuity, Abnormal optic disc morphology, Vitreoretinopathy, Retinal vasc...	ORPHA:440727
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome	Ventriculomegaly, Macrocephaly	ORPHA:1568
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Optic Atrophy 7 With Or Without Auditory Neuropathy	Optic disc pallor, Constriction of peripheral visual field, Central scotoma, Optic atrophy, Reduc...	OMIM:612989
Retinitis Pigmentosa 59	Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Rod-cone dystrophy, C...	OMIM:613861
Microcephaly, Seizures, And Developmental Delay	Ventriculomegaly, Progressive microcephaly, Microcephaly	OMIM:613402
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79434
Albinism, Oculocutaneous, Type Ii	Hypoplasia of the fovea, Myopia, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinis...	OMIM:203200
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Myopia, Generalized hyperpigmentation, Photophobia, Macular ...	ORPHA:816
Leber Congenital Amaurosis 15	Optic disc pallor, Myopia, Constriction of peripheral visual field, Nyctalopia, Reduced visual ac...	OMIM:613843
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Abnormal circulating vitamin E concentration, Abnormal circulating vitamin A concentration	ORPHA:209902
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Mildly reduced visual acuity, Vitreous floaters, Lattice retinal degeneration...	OMIM:614292
Imerslund-Grasbeck Syndrome 1	Malabsorption of Vitamin B12, Vitamin B12 deficiency, Abnormal blood folate concentration	OMIM:261100
Optic Pathway Glioma	Papilledema, Blindness, Visual loss, Optic atrophy, Reduced visual acuity, Visual field defect	ORPHA:2086
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy, Constriction of peripheral visual field, Rod-cone dystrophy, Visual impai...	OMIM:614307
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Abnormality of retinal pigmentation, Myopia, Abnormal chorioretinal morphology, Visual loss, Nyct...	ORPHA:5
Early-Onset X-Linked Optic Atrophy	Optic disc pallor, Decreased nerve conduction velocity, Central scotoma, Optic atrophy, Reduced v...	ORPHA:98890
Masa Syndrome	Macrocephaly, Hydrocephalus, Ventriculomegaly, Microcephaly	OMIM:303350
Diarrhea 6	Vitamin B12 deficiency	OMIM:614616
Night Blindness, Congenital Stationary, Type 1B	Myopia, Bone spicule pigmentation of the retina, Nyctalopia, Hemeralopia, Congenital stationary n...	OMIM:257270
Developmental And Epileptic Encephalopathy 28	Cerebral atrophy, Blue sclerae, Optic atrophy, Retinal degeneration	OMIM:616211
Enhanced S-Cone Syndrome	Nyctalopia, Macular edema, Hemeralopia, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis	OMIM:268100
Pierson Syndrome	Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascu...	OMIM:609049
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Blindness, Myopia, Optic nerve hypoplasia	OMIM:615181
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal dysp...	OMIM:614643
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Microphthalmia, Remnants of the hyaloid vascular system	ORPHA:2714
Glutathione Synthetase Deficiency	Pigmentary retinopathy	OMIM:266130
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:120433
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia, Foveal hyperpigmentation, Optic nerve misrouting	OMIM:609218
Cataract 50 With Or Without Glaucoma	Retinal detachment, Persistent pupillary membrane	OMIM:620253
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Ventriculomegaly, Primary microcephaly	ORPHA:171703
Severe Canavan Disease	Blindness, Optic atrophy	ORPHA:314911
Cln3 Disease	Cerebellar atrophy, Blindness, Bull's eye maculopathy, Amblyopia, Optic atrophy, Pigmentary retin...	ORPHA:228346
Formiminoglutamic Aciduria	Increased blood folate concentration, Abnormality of folate metabolism	ORPHA:51208
3-Methylglutaconic Aciduria, Type Iii	Optic atrophy, Reduced visual acuity, Visual impairment	OMIM:258501
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation, Macrocephaly	OMIM:600348
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of r...	ORPHA:79432
Microphthalmia, Isolated 6	Microphthalmia, Retinal fold	OMIM:613517
Chudley-Mccullough Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:604213
Macular Degeneration, Age-Related, 1	Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg...	OMIM:603075
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplasia, ...	ORPHA:83461
Retinitis Pigmentosa 89	Constriction of peripheral visual field, Retinal thinning, Nyctalopia, Hyperautofluorescent retin...	OMIM:618955
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Optic disc pallor, Large central visual field defect, Blindness, Visual loss,...	ORPHA:79264
Behr Syndrome	Cerebellar atrophy, Blindness, Optic atrophy, Cerebellar vermis atrophy, Hypoplastic optic chiasm...	OMIM:210000
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation, Cerebral atrophy	ORPHA:397951
1Q21.1 Microduplication Syndrome	Hydrocephalus, Failure to thrive, Macrocephaly	ORPHA:250994
Bardet-Biedl Syndrome 16	Rod-cone dystrophy, Reduced visual acuity, Retinal degeneration	OMIM:615993
Oculocutaneous Albinism Type 1	Hypoplasia of the fovea, White eyelashes, White eyebrow, Amblyopia, Blue irides, Reduced visual a...	ORPHA:352731
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Moderately reduced visual acuity, Retinal coloboma, Chorioretinal coloboma, Severely reduced visu...	ORPHA:2921
Bietti Crystalline Corneoretinal Dystrophy	Constriction of peripheral visual field, Chorioretinal atrophy, Reduced visual acuity, High myopi...	OMIM:210370
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Retinal dysplasia	OMIM:614830
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ag...	ORPHA:897
Coats Disease	Aplasia/Hypoplasia of the iris, Retinal detachment, Abnormal retinal vascular morphology, Abnorma...	ORPHA:190
Microphthalmia, Isolated 8	Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob...	OMIM:615113
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Retinitis Pigmentosa 23	Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Mild myopia, Absent ...	OMIM:300424
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Optic atrophy, Coloboma	OMIM:274270
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Visual impairment, Patchy atrophy of the retinal pigment epi...	ORPHA:1433
Intellectual Developmental Disorder, Autosomal Recessive 69	Ventriculomegaly, Microcephaly	OMIM:618383
Optic Atrophy 5	Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy	OMIM:610708
Simpson-Golabi-Behmel Syndrome, Type 2	Obesity, Ventriculomegaly, Macrocephaly	OMIM:300209
Peroxisomal Acyl-Coa Oxidase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	OMIM:264470
Idiopathic Uveal Effusion Syndrome	Metamorphopsia, Reduced visual acuity, Subretinal fluid, Visual field defect, Exudative retinal d...	ORPHA:209956
Night Blindness, Congenital Stationary, Type 1E	Congenital stationary night blindness, Reduced visual acuity, Visual impairment, High myopia	OMIM:614565
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity	Reduced circulating vitamin A concentration, Decreased circulating vitamin E concentration	ORPHA:352641
Night Blindness, Congenital Stationary, Type 1C	Congenital stationary night blindness, Myopia, Reduced visual acuity	OMIM:613216
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus	OMIM:166990
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities	Ventriculomegaly, Progressive microcephaly, Microcephaly	OMIM:616486
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Lissencephaly 1	Secondary microcephaly, Ventriculomegaly	OMIM:607432
Achromatopsia 2	Hypoplasia of the fovea, Retinal thinning, Nyctalopia, Absent foveal reflex, Reduced visual acuit...	OMIM:216900
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
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
Cortical Dysplasia, Complex, With Other Brain Malformations 5	Ventriculomegaly	OMIM:615763
Usher Syndrome Type 1	Scotoma, Visual loss, Nyctalopia, Subcortical cerebral atrophy, Hemianopia, High hypermetropia, C...	ORPHA:231169
Bowen-Conradi Syndrome	Ventriculomegaly, Microcephaly	ORPHA:1270
Bonnemann-Meinecke-Reich Syndrome	Ventriculomegaly, Microcephaly	ORPHA:1261
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Enlarged sylvian cistern, Ventriculomegaly	ORPHA:1084
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Lobar holoprosencephaly, ...	OMIM:609637
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Myopia, Patchy atrophy of the retinal pigment ...	OMIM:616468
Pancreatic Triacylglycerol Lipase Deficiency	Reduced circulating vitamin A concentration, Low levels of vitamin D, Decreased circulating vitam...	ORPHA:309031
Polymicrogyria, Bilateral Temporooccipital	Ventriculomegaly	OMIM:612691
Microphthalmia, Isolated 4	Microphthalmia, Coloboma	OMIM:613094
Stickler Syndrome, Type I, Nonsyndromic Ocular	Optically empty vitreous, Rhegmatogenous retinal detachment	OMIM:609508
Olivopontocerebellar Atrophy-Deafness Syndrome	Ventriculomegaly	ORPHA:2732
Sjogren-Larsson Syndrome	Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Reduced visual acuity, Ph...	OMIM:270200
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy, Cerebral visual impairment	OMIM:618234
Norrie Disease	Retinal detachment, Blindness, Optic atrophy, Leukocoria, Hypoplasia of the iris, Retinal dysplas...	OMIM:310600
Sarcosinemia	Congenital blindness, Optic atrophy	ORPHA:3129
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A	Ventriculomegaly, Macrocephaly	OMIM:613925
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Reduced visual acuity, Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy	OMIM:616722
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Blindness, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:216866
Stickler Syndrome Type 2	Retinal detachment, Myopia, Retinopathy, Abnormal vitreous humor morphology	ORPHA:90654
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:245800
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Macrocephaly at birth, Occipital encephalocele, Hydrocephalus, Ventriculomegaly	ORPHA:324416
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome	Ventriculomegaly, Microcephaly	ORPHA:3207
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Myopia, Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate, Progressive...	OMIM:264420
Congenital Toxoplasmosis	Abnormality of retinal pigmentation, Visual impairment	ORPHA:858
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Gombo Syndrome	Microphthalmia	OMIM:233270
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Decreased head circumference, Ventriculomegaly	ORPHA:500166
Deafness-Hypogonadism Syndrome	Congenital stationary night blindness, Low levels of vitamin B1, Heterochromia iridis	ORPHA:90646
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Optic atrophy, Chorioretinal coloboma, Microphthalmia, Iris coloboma	ORPHA:1473
Atelis Syndrome 2	Microphthalmia, Remnants of the hyaloid vascular system, Vitreous hemorrhage	OMIM:620185
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida, Macrocephaly	ORPHA:1931
Albinism, Ocular, Type I	Hypoplasia of the fovea, Ocular albinism, Reduced visual acuity, Depigmented fundus, Photophobia,...	OMIM:300500
Microphthalmia, Syndromic 13	Microphthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:300915
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity	Ventriculomegaly, Microcephaly	OMIM:618730
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Optic atrophy, Visual impairment	ORPHA:44
Oculocutaneous Albinism Type 5	Hypoplasia of the fovea, Ocular albinism, Reduced visual acuity, Abnormal fundus morphology, Phot...	ORPHA:370091
Night Blindness, Congenital Stationary, Type 2A	Congenital stationary night blindness, Reduced visual acuity, Visual impairment	OMIM:300071
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Macular atrophy, Optic atrophy, Microphthalmia, Retinopathy	OMIM:616171
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Blindness, Visual loss, Optic atrophy, Progressive visual loss, Visual impairment	OMIM:601338
Macrocephaly, Benign Familial	Biparietal narrowing, Ventriculomegaly, Macrocephaly	OMIM:153470
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Blindness, Abnormal retinal vascular morphology,...	ORPHA:3205
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia, Iris coloboma	OMIM:610092
Wolfram Syndrome, Mitochondrial Form	Blindness, Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:598500
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia, Retinal dysplasia	OMIM:615771
Aland Island Eye Disease	Hypoplasia of the fovea, Myopia, Severely reduced visual acuity, Albinism	OMIM:300600
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
Usher Syndrome Type 3	Scotoma, Visual loss, Nyctalopia, Hemianopia, High hypermetropia, Iris hypopigmentation	ORPHA:231183
Retinitis Pigmentosa 74	Optic disc pallor, Constriction of peripheral visual field, Reduced visual acuity, Pigmentary ret...	OMIM:616562
Krabbe Disease	Blindness, Diffuse cerebral atrophy, Decreased nerve conduction velocity, Optic atrophy, Neurodeg...	OMIM:245200
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cerebellar atrophy, Abnormality of retinal pigmentation, Visual impairment	ORPHA:3085
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Slender build, Ventriculomegaly, Macrocephaly	OMIM:300699
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation, Nyctalopia, Visual impairment	ORPHA:96
Fuchs Heterochromic Iridocyclitis	Iris atrophy, Papilledema, Optic disc pallor, Retinal perforation, Vitreous floaters, Epiretinal ...	ORPHA:263479
Diencephalic Syndrome	Hydrocephalus, Cachexia, Decreased body weight	ORPHA:1672
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation	ORPHA:1264
Developmental And Epileptic Encephalopathy 36	Macrocephaly, Hydrocephalus, Microcephaly	OMIM:300884
Leukodystrophy, Hypomyelinating, 14	Cerebellar atrophy, Blindness, Cerebral atrophy	OMIM:617899
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy, Myopia, Cerebral cortical atrophy, Facial palsy	ORPHA:370968
Leukoencephalopathy With Vanishing White Matter 1	Blindness, Optic atrophy	OMIM:603896
Hsd10 Disease, Infantile Type	Blindness, Diffuse cerebral atrophy, Visual loss, Optic atrophy, Cerebral atrophy, Frontotemporal...	ORPHA:391428
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus, Small for gestational age, Microcephaly	OMIM:618302
Usher Syndrome	Abnormality of retinal pigmentation, Blindness, Myopia, Nyctalopia, Visual field defect, Progress...	ORPHA:886
Uveal Melanoma	Retinal detachment, Metamorphopsia, Iris melanoma, Photopsia, Visual loss, Abnormal fundus morpho...	ORPHA:39044
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Premature graying of hair, Blue sclerae, Heterochromia iridis	ORPHA:66633
Congenital Hydrocephalus	Hydrocephalus, Ventriculomegaly, Colpocephaly, Macrocephaly	ORPHA:2185
Silver-Russell Syndrome Due To 11P15 Microduplication	Small for gestational age, Short stature, Postnatal growth retardation, Severe intrauterine growt...	ORPHA:231144
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Visual impairment	ORPHA:290
Bilateral Striopallidodentate Calcinosis	Ventriculomegaly, Microcephaly	ORPHA:1980
Pseudoxanthoma Elasticum, Forme Fruste	Myopia, Retinal hemorrhage, Angioid streaks of the fundus, Reduced visual acuity, Macular degener...	OMIM:177850
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Ramon Syndrome	Abnormality of retinal pigmentation	ORPHA:3019
Autosomal Recessive Spastic Paraplegia Type 53	Failure to thrive, Ventriculomegaly, Microcephaly	ORPHA:319199
Oculopharyngodistal Myopathy 3	Photophobia, Pigmentary retinopathy	OMIM:619473
Heimler Syndrome 1	Macular dystrophy, Retinal pigment epithelial mottling	OMIM:234580
Cataract 21, Multiple Types	Retinal detachment, Macular hypoplasia, Iris coloboma, High myopia	OMIM:610202
Chylomicron Retention Disease	Abnormality of vitamin metabolism, Retinopathy, Visual impairment	ORPHA:71
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Megalocornea	Retinal detachment, Iridodonesis, Reduced visual acuity, Iris transillumination defect	OMIM:309300
Peroxisome Biogenesis Disorder 9B	Constriction of peripheral visual field, Rod-cone dystrophy, Reduced visual acuity, Nyctalopia	OMIM:614879
Canavan Disease	Blindness, Optic atrophy, Brain atrophy, Visual impairment	OMIM:271900
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Retinal dystrophy, Macular atrophy, Buphthalmos, Chorioretinal coloboma, Micr...	OMIM:212550
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation, Myopia	ORPHA:1496
Macrophthalmia, Colobomatous, With Microcornea	Myopia, Macular atrophy, Optic disc coloboma, Reduced visual acuity, Chorioretinal coloboma, Iris...	OMIM:602499
Infantile Refsum Disease	Constriction of peripheral visual field, Facial palsy, Nyctalopia, Optic atrophy, Rod-cone dystro...	ORPHA:772
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy, Visual impairment	OMIM:252011
Trisomy 5P	Obesity, Ventriculomegaly, Macrocephaly	ORPHA:1742
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Pigmentary retinopathy, Blindness, Mottled pigmentation of photoexposed areas	OMIM:560000
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Constriction of peripheral visual field, Patchy atrophy of the retinal pigment epithelium, Progre...	ORPHA:436245
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortical atrophy, Visual impairment	ORPHA:2518
X-Linked Neurodegenerative Syndrome, Hamel Type	Blindness	ORPHA:85336
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy, Blindness, Reduced visual acuity	ORPHA:3208
Hypobetalipoproteinemia, Familial, 1	Rod-cone dystrophy, Retinal degeneration, Decreased circulating vitamin E concentration	OMIM:615558
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Pyruvate Dehydrogenase E2 Deficiency	Neurodegeneration, Low levels of vitamin B1, Peripheral visual field loss, Retinal degeneration	ORPHA:79244
Congenital Bile Acid Synthesis Defect Type 4	Pigmentary retinopathy, Low levels of vitamin K, Homonymous hemianopia	ORPHA:79095
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Rod-cone dystrophy, Reduced visual acuity	OMIM:619082
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Rod-cone dystrophy, Retinal coloboma	OMIM:601794
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Microlissencephaly	Ventriculomegaly, Microcephaly	ORPHA:1083
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Myopia, Retinal atrophy, Retinal pigment epithelial atrophy, Ring scotoma, Epi...	OMIM:616959
Cerebral Sclerosis, Diffuse, Scholz Type	Blindness	OMIM:302700
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Myopia 28, Autosomal Recessive	Retinal detachment, High myopia	OMIM:619781
Glycogen Storage Disease Vi	Postnatal growth retardation, Failure to thrive in infancy	OMIM:232700
Juvenile Paget Disease	Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus	ORPHA:2801
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Optic atrophy	ORPHA:1528
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus, Microcephaly	OMIM:619470
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1173
Vitamin D-Dependent Rickets, Type 3	Low serum calcitriol, Decreased circulating calcifediol concentration	OMIM:619073
Alexander Disease Type I	Hydrocephalus, Failure to thrive, Progressive macrocephaly, Cachexia	ORPHA:363717
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Rod-cone dystrophy, Retinal coloboma	ORPHA:363741
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Visual loss, Nyctalopia, Axonal degeneration, Pigmentary...	ORPHA:88628
Familial Scaphocephaly Syndrome, Mcgillivray Type	Ventriculomegaly, Macrocephaly	ORPHA:168624
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Yoon-Bellen Neurodevelopmental Syndrome	Failure to thrive, Ventriculomegaly, Microcephaly	OMIM:619701
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Myopia, Blindness, Optic nerve hypoplasia, Optic atrophy, Abnormality iris mo...	ORPHA:370959
Refsum Disease	Abnormality of retinal pigmentation, Nyctalopia, Abnormality of vision, Progressive visual loss, ...	ORPHA:773
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Microcephaly, Increased CSF lactate, Abnormal CSF pyruvate family amino acid concentration, Failu...	ORPHA:255182
Coloboma, Ocular, Autosomal Recessive	Reduced visual acuity, Optic disc coloboma, Retinal coloboma, Iris coloboma	OMIM:216820
Facial Clefting, Oblique, 1	Microphthalmia, Coloboma	OMIM:600251
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots	OMIM:193230
Microcephaly 17, Primary, Autosomal Recessive	Failure to thrive, Ventriculomegaly, Primary microcephaly	OMIM:617090
Spinocerebellar Ataxia Type 7	Cone/cone-rod dystrophy, Cerebellar atrophy, Blindness, Visual loss, Reduced visual acuity, Abnor...	ORPHA:94147
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Myopia 3, Autosomal Dominant	Retinal detachment, High myopia	OMIM:603221
Myopia 2, Autosomal Dominant	Retinal detachment, High myopia	OMIM:160700
Myopia 5, Autosomal Dominant	Retinal detachment, High myopia	OMIM:608474
Myopia 25, Autosomal Dominant	Retinal detachment, High myopia	OMIM:617238
Aniridia 2	Aniridia, Optic atrophy, Iris coloboma, Amblyopia	OMIM:617141
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Mucolipidosis Type Iv	Photophobia, Abnormality of retinal pigmentation, Retinopathy	ORPHA:578
Developmental And Epileptic Encephalopathy 97	Ventriculomegaly	OMIM:619561
Late Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Myopia, Blindness, Corpus callosum atrophy, Visual loss, Reduced visual acuit...	ORPHA:168491
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Mucous Membrane Pemphigoid	Blindness	ORPHA:46486
Macrocephaly, Acquired, With Impaired Intellectual Development	Ventriculomegaly, Macrocephaly	OMIM:618286
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Ventriculomegaly, Microcephaly	OMIM:304100
Cat-Eye Syndrome	Microphthalmia, Iris coloboma, Chorioretinal coloboma	ORPHA:195
Retinal Dystrophy With Or Without Extraocular Anomalies	Retinal dystrophy, Reduced visual acuity	OMIM:617175
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy, Brain atrophy	OMIM:619059
Ventriculomegaly And Arthrogryposis	Ventriculomegaly	OMIM:619501
Cohen Syndrome	Myopia, Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Bull's eye maculopathy,...	OMIM:216550
Ectopia Lentis Et Pupillae	Retinal detachment, High myopia, Iris transillumination defect, Ectopia pupillae, Persistent pupi...	OMIM:225200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Pigmentary retinopathy, Myopia, Cerebral cortical atrophy, Facial palsy	OMIM:613156
Autosomal Recessive Spastic Paraplegia Type 15	Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina	ORPHA:100996
Cerebrooculofacioskeletal Syndrome 3	Ventriculomegaly, Microcephaly	OMIM:616570
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Joubert Syndrome 22	Microphthalmia, Retinal dysplasia, Coloboma	OMIM:615665
Methanol Poisoning	Blindness, Abnormal optic nerve morphology, Visual impairment, Blurred vision	ORPHA:31825
Optic Atrophy 8	Abnormality of pattern visual evoked potentials, Optic atrophy, Prolonged somatosensory evoked po...	OMIM:616648
Alexander Disease	Increased CSF protein concentration, Hydrocephalus, Progressive macrocephaly	OMIM:203450
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Optic atrophy, Peripheral visual fiel...	OMIM:268315
Microcephaly 5, Primary, Autosomal Recessive	Ventriculomegaly, Microcephaly	OMIM:608716
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus, Secondary microcephaly, Microcephaly	OMIM:615599
Pantothenate Kinase-Associated Neurodegeneration	Blindness, Pallidal degeneration, Bull's eye maculopathy, Nyctalopia, Optic atrophy, Peripheral v...	ORPHA:157850
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus, Macrocephaly	OMIM:300886
Cach Syndrome	Cerebellar atrophy, Blindness, Optic atrophy, Cerebral atrophy, Optic neuritis, Atrophy/Degenerat...	ORPHA:135
Microphthalmia, Isolated, With Coloboma 9	Retinal detachment, Macular coloboma, Reduced visual acuity, Iris coloboma, Visual impairment	OMIM:615145
Macdermot-Winter Syndrome	Ventriculomegaly, Microcephaly	OMIM:247990
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome	Optic disc pallor, Cerebral visual impairment, Optic atrophy, Reduced visual acuity, Visual field...	OMIM:615722
Masa Syndrome	Ventriculomegaly	ORPHA:2466
Arthrogryposis, Distal, Type 5	Abnormality of retinal pigmentation, Retinal fold, Hypermetropia	OMIM:108145
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h...	ORPHA:637
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy	ORPHA:329336
Lowry-Wood Syndrome	Pigmentary retinopathy, Nyctalopia, Peripheral visual field loss	OMIM:226960
Refsum Disease, Classic	Nyctalopia, Rod-cone dystrophy, Retinal degeneration	OMIM:266500
Joubert Syndrome 6	Blindness, Retinal degeneration, Chorioretinal coloboma	OMIM:610688
Maturity-Onset Diabetes Of The Young, Type 14	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young	OMIM:616511
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Nyctalopia, Optic atrophy	ORPHA:99947
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Cerebellar atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Cerebral atrophy	OMIM:268020
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:605231
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Ventriculomegaly, Progressive microcephaly	OMIM:617862
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia, Iris coloboma, Coloboma	OMIM:610023
Albers-Schönberg Osteopetrosis	Blindness, Optic atrophy, Facial palsy, Visual impairment	ORPHA:53
Intermediate Uveitis	Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, Reduced visual acuity, Macul...	ORPHA:279914
Joubert Syndrome With Oculorenal Defect	Blindness, Retinal dystrophy, Aganglionic megacolon, Chorioretinal coloboma, Iris coloboma, Visua...	ORPHA:2318
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Photophobia, Retinal pigment epithelial mottling, Retinopathy	OMIM:219900
Isolated Atp Synthase Deficiency	Cerebellar atrophy, Blindness, Optic atrophy, Rod-cone dystrophy, Cerebral cortical atrophy	ORPHA:254913
Migraine, Familial Hemiplegic, 3	Photophobia, Blindness	OMIM:609634
Spastic Paraplegia 75, Autosomal Recessive	Cerebellar atrophy, Corpus callosum atrophy, Optic atrophy, Reduced visual acuity, Hypermetropia	OMIM:616680
Desmoid Tumor	Abnormality of retinal pigmentation	ORPHA:873
Biemond Syndrome Type 2	Hydrocephalus, Obesity	ORPHA:141333
Severe Oculo-Renal-Cerebellar Syndrome	Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Optic atrophy, Hypopig...	ORPHA:2715
Lowry-Wood Syndrome	Abnormality of retinal pigmentation, Visual impairment	ORPHA:1824
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus, Secondary microcephaly, Macrocephaly	OMIM:618174
Congenital Disorder Of Glycosylation, Type Iiy	Ventriculomegaly, Microcephaly	OMIM:620200
Madras Motor Neuron Disease	Facial palsy, Optic atrophy, Reduced visual acuity, Visual impairment	ORPHA:137867
2,4-Dienoyl-Coa Reductase Deficiency	Microcephaly, Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentrat...	OMIM:616034
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Reduced visual acuity, Optic disc pallor, Rod-cone dystrophy, Macular atrophy	OMIM:615434
Joubert Syndrome 3	Pigmentary retinopathy, Retinal dystrophy, Visual impairment	OMIM:608629
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Blindness, Retinal dystrophy	ORPHA:713
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt...	ORPHA:2481
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Aicardi-Goutieres Syndrome 4	Hydrocephalus, Ventriculomegaly, Progressive microcephaly, CSF lymphocytic pleiocytosis	OMIM:610333
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus, Macrocephaly	OMIM:307000
Joubert Syndrome 35	Nyctalopia, Rod-cone dystrophy, Progressive visual loss	OMIM:618161
Stickler Syndrome, Type I	Retinal detachment, Myopia, Blindness, Vitreoretinopathy, Membranous vitreous appearance, Retinal...	OMIM:108300
Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Blindness, Increased neuronal autofluorescent lipopigment, Visual loss, Progr...	ORPHA:79263
Developmental And Epileptic Encephalopathy 54	Ventriculomegaly, Microcephaly	OMIM:617391
Intrinsic Factor Deficiency	Malabsorption of Vitamin B12, Vitamin B12 deficiency	OMIM:261000
Lissencephaly 3	Ventriculomegaly, Microcephaly	OMIM:611603
Hypercholanemia, Familial 1	Low levels of vitamin K	OMIM:607748
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615986
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Blindness, Freckles in sun-exposed areas, Albinism, Ocular albinism, Me...	OMIM:203300
Cancer-Associated Retinopathy	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Constriction of periphera...	ORPHA:71505
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o...	ORPHA:649
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Postnatal growth retardation, Truncal obesity, Abdominal obesity, Short stature	OMIM:618160
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae	Ventriculomegaly, Microcephaly	OMIM:617051
Bile Acid Malabsorption, Primary, 2	Low levels of vitamin D, Decreased circulating vitamin E concentration	OMIM:619481
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Visual impairm...	OMIM:615994
Microphthalmia, Syndromic 2	Retinal detachment, Anophthalmia, Remnants of the hyaloid vascular system, Phthisis bulbi, Microp...	OMIM:300166
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus, Macrocephaly	ORPHA:83473
Mitochondrial Complex I Deficiency, Nuclear Type 31	Failure to thrive, Ventriculomegaly	OMIM:618251
Riboflavin Deficiency	Low levels of vitamin B2	OMIM:615026
Cardiomyopathy, Familial Restrictive, 1	Ventriculomegaly	OMIM:115210
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Optic atrophy, Reduced visual acuity, Cerebellar vermis atrophy	ORPHA:466794
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Methylmalonic acidemia, Blindness, Cerebral atrophy, Decreased methylcobalamin, Cerebral cortical...	OMIM:236270
Moyamoya Disease	Ventriculomegaly	ORPHA:2573
Cone-Rod Dystrophy And Hearing Loss 1	Retinal atrophy, Photophobia, Macular degeneration, Hemeralopia, Dyschromatopsia, Visual impairment	OMIM:617236
Lethal Ataxia With Deafness And Optic Atrophy	Decreased motor nerve conduction velocity, Blindness, Optic atrophy, Visual impairment, Abnormali...	ORPHA:1187
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Lissencephaly 5	Occipital encephalocele, Hydrocephalus, Macrocephaly	OMIM:615191
Mulibrey Nanism	Pigmentary retinopathy, Iris coloboma	OMIM:253250
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Temple Syndrome	Relative macrocephaly, Hydrocephalus, Small for gestational age, Obesity	ORPHA:254516
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Shwachman-Diamond Syndrome	Reduced circulating vitamin A concentration, Low levels of vitamin D, Decreased circulating vitam...	ORPHA:811
Fried Syndrome	Hydrocephalus	ORPHA:85335
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Blindness, Cerebral atrophy, Decreased methylcobalamin	OMIM:250940
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy	Blindness	OMIM:607674
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Optic atrophy, Reduced visual acuity, Pigmentary retinopathy, Visual impairment	OMIM:617282
Stickler Syndrome, Type V	Retinal detachment, Vitreoretinopathy	OMIM:614284
Temtamy Syndrome	Microphthalmia, Iris coloboma, Chorioretinal coloboma	ORPHA:1777
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Increased CSF protein concentration, Ventriculomegaly	OMIM:611722
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Conjunctival telangiectasia, Blindness, Optic atrophy, Spinocerebellar atrophy	ORPHA:95433
Night Blindness, Congenital Stationary, Type 1H	Hypermetropia, Photophobia, Nyctalopia, Mild myopia	OMIM:617024
Cataract 9, Multiple Types	Microphthalmia, Iris coloboma	OMIM:604219
Antiphospholipid Syndrome, Familial	Retinal detachment, Visual loss, Vitritis, Central retinal artery occlusion, Retinal vasculitis, ...	OMIM:107320
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Myopia, Chorioretinal dysplasia, Chorioretinal lacunae, Optic atrophy, Reduce...	OMIM:152950
Catel-Manzke Syndrome	Failure to thrive, Ventriculomegaly	ORPHA:1388
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Chorioretinal coloboma, Microphthalmia, Cyclopia, Iris c...	OMIM:157170
Hermansky-Pudlak Syndrome 6	Albinism, Amblyopia, Ocular albinism, Absent foveal reflex, Reduced visual acuity, Photophobia, M...	OMIM:614075
Usher Syndrome Type 2	Myopia, Scotoma, Visual loss, Nyctalopia, Subcortical cerebral atrophy, Hemianopia, Cerebral cort...	ORPHA:231178
Gómez-López-Hernández Syndrome	Hydrocephalus	ORPHA:1532
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Optic atrophy, Abnormality of peripheral nerve conduction, V...	ORPHA:585
Spastic Paraplegia 15, Autosomal Recessive	Macular degeneration, Visual impairment, Reduced visual acuity, Retinal degeneration	OMIM:270700
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ...	ORPHA:85167
Primary Sclerosing Cholangitis	Reduced circulating vitamin A concentration, Low levels of vitamin D, Decreased circulating vitam...	ORPHA:171
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Nyctalopia, Retinal degeneration	OMIM:615630
Primary Angiitis Of The Central Nervous System	Abnormal visual field test, Diplopia, Reduced visual acuity, Pseudopapilledema, Amaurosis fugax, ...	ORPHA:140989
2Q24 Microdeletion Syndrome	Microphthalmia, Coloboma	ORPHA:1617
Joubert Syndrome 30	Cerebellar atrophy, Retinal dystrophy, Reduced visual acuity	OMIM:617622
Leigh Syndrome	Pigmentary retinopathy, Optic atrophy	OMIM:256000
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation, Macrocephaly	OMIM:220220
Severe X-Linked Intellectual Disability, Gustavson Type	Blindness, Optic atrophy, Brain atrophy	ORPHA:3078
Vici Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Hypopigmentation of the skin, Cerebral cortic...	ORPHA:1493
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Cerebellar atrophy, Myopia, Nyctalopia, High myopia, Rod-cone dystrophy, Cerebral cortical atrophy	OMIM:617763
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Low levels of vitamin K	ORPHA:565899
Developmental And Epileptic Encephalopathy 70	Ventriculomegaly, Microcephaly	OMIM:618298
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Progressive macrocephaly, Ventriculomegaly	OMIM:602501
Posterior Polymorphous Corneal Dystrophy	Very low visual acuity, Chorioretinal degeneration, Amblyopia, Uveal ectropion, Reduced visual ac...	ORPHA:98973
Temtamy Preaxial Brachydactyly Syndrome	Blue sclerae, Optic atrophy	OMIM:605282
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Ventriculomegaly, Microcephaly	OMIM:617977
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Ventriculomegaly, Microcephaly	OMIM:613151
Hydrolethalus Syndrome 2	Hydrocephalus, Anencephaly, Ventriculomegaly	OMIM:614120
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Cerebellar atrophy, Blindness, Diffuse cerebral atrophy, Central scotoma, Optic atrophy, Visual i...	ORPHA:543470
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Retinal dystrophy, Facial palsy	OMIM:613155
Albinism, Oculocutaneous, Type Ia	Hypoplasia of the fovea, Myopia, Hypopigmentation of hair, Albinism, Absent skin pigmentation, Wh...	OMIM:203100
Mehmo Syndrome	Small for gestational age, Obesity, Ventriculomegaly, Microcephaly	OMIM:300148
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Ventriculomegaly, Microcephaly	OMIM:619150
Alstrom Syndrome	Cone/cone-rod dystrophy, Blindness, Constriction of peripheral visual field, Visual loss, Photoph...	OMIM:203800
Hermansky-Pudlak Syndrome 11	Hypoplasia of the fovea, Albinism, Ocular albinism, Reduced visual acuity, Melanocytic nevus, Pho...	OMIM:619172
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonic acidemia, Retinal pigment epithelial mottling	OMIM:614105
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus	OMIM:619302
Leukoencephalopathy, Cystic, Without Megalencephaly	Ventriculomegaly, Microcephaly	OMIM:612951
Osteopetrosis, Autosomal Recessive 2	Blindness, Cranial nerve compression, Optic atrophy, Facial paralysis	OMIM:259710
Leukoencephalopathy With Vanishing White Matter 4	Ventriculomegaly	OMIM:620314
Hermansky-Pudlak Syndrome 8	Hypoplasia of the fovea, Optic disc pallor, Myopia, Albinism, Silver-gray hair, High hypermetropi...	OMIM:614077
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus	ORPHA:352682
Williams-Beuren Region Duplication Syndrome	Small for gestational age, Hydrocephalus, Macrocephaly, Failure to thrive, Ventriculomegaly	OMIM:609757
Night Blindness, Congenital Stationary, Type1I	Tritanomaly, Nyctalopia	OMIM:618555
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Optic disc pallor	OMIM:613730
Lissencephaly 8	Microphthalmia, Optic atrophy	OMIM:617255
Chromosome 6Pter-P24 Deletion Syndrome	Pigmentary retinopathy, Blue sclerae, Hypermetropia	OMIM:612582
Cranioectodermal Dysplasia 4	Nyctalopia, Rod-cone dystrophy, Hypermetropia, Visual impairment	OMIM:614378
Birdshot Chorioretinopathy	Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters	OMIM:605808
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling, Hypermetropia	OMIM:617102
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Failure to thrive, Ventriculomegaly, Microcephaly	OMIM:615286
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Cinca Syndrome	Retrobulbar optic neuritis, Blindness, Pseudopapilledema, Visual impairment	ORPHA:1451
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Leber Congenital Amaurosis 3	Visual loss, Nyctalopia, Constriction of peripheral visual field	OMIM:604232
Mody	Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu...	ORPHA:552
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus, Macrocephaly	ORPHA:1516
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus, Obesity	ORPHA:2183
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Ventriculomegaly, Primary microcephaly	ORPHA:2172
Bilateral Frontoparietal Polymicrogyria	Increased head circumference, Ventriculomegaly, Microcephaly	ORPHA:101070
Momo Syndrome	Blindness, Retinal coloboma	OMIM:157980
Hermansky-Pudlak Syndrome 4	Hypoplasia of the fovea, Ocular albinism, Reduced visual acuity, Albinism	OMIM:614073
3-Hydroxyisobutyric Aciduria	Ventriculomegaly, Microcephaly	ORPHA:939
Infantile Neuroaxonal Dystrophy	Cerebellar atrophy, Blindness, Optic atrophy, Abnormal autonomic nervous system physiology, Abnor...	ORPHA:35069
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus, Obesity	OMIM:616521
Optic Atrophy-Intellectual Disability Syndrome	Myopia, Optic disc hypoplasia, Optic nerve hypoplasia, Cerebral visual impairment, Amblyopia, Opt...	ORPHA:401777
Tay-Sachs Disease	Cherry red spot of the macula, Blindness	OMIM:272800
Brittle Cornea Syndrome	Retinal detachment, Visual loss, Abnormality of hair pigmentation, High myopia, Blue sclerae	ORPHA:90354
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Pigmentary retinopathy, Posterior synechiae of the anterior chamber, Optic atrophy, Retinal dyspl...	OMIM:613154
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Microphthalmia-Brain Atrophy Syndrome	Blindness, Diffuse cerebral atrophy, Corpus callosum atrophy, Atrophy/Degeneration affecting the ...	ORPHA:77299
Temple Syndrome	Relative macrocephaly, Small for gestational age, Overweight, Hydrocephalus, Obesity, Truncal obe...	OMIM:616222
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology...	ORPHA:1215
Osteopetrosis, Autosomal Recessive 1	Blindness, Facial palsy, Optic atrophy, Facial paralysis, Visual impairment	OMIM:259700
Neuroocular Syndrome	Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Lens coloboma, Microphthalmia, ...	OMIM:619539
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Blindness, Optic atrophy, Cerebral atrophy, High myopia	OMIM:220500
Pseudoxanthoma Elasticum	Myopia, Metamorphopsia, Retinal hemorrhage, Angioid streaks of the fundus, Blue sclerae, Retinopa...	ORPHA:758
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Myopia, Blue sclerae, Optic atrophy	OMIM:619383
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Rod-cone dystrophy, Nyctalopia, Visual field defect, Cafe-au-lait spot, Cerebral cortical atrophy...	ORPHA:166035
Warburg Micro Syndrome 1	Microphthalmia, Optic atrophy	OMIM:600118
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Micro Syndrome	Abnormality of retinal pigmentation, Cerebral visual impairment, Optic atrophy, Retinal coloboma,...	ORPHA:2510
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Macrocephaly	ORPHA:380
Generalized Eruptive Histiocytosis	Abnormal vitamin B12 level	ORPHA:157991
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Senior-Loken Syndrome 8	Retinal dystrophy, Macular atrophy, Reduced visual acuity, Rod-cone dystrophy, Visual impairment	OMIM:616307
Spastic Paraplegia 47, Autosomal Recessive	Overweight, Ventriculomegaly, Microcephaly	OMIM:614066
Obesity Due To Sim1 Deficiency	Low levels of vitamin B1, Postural hypotension with compensatory tachycardia, Abnormal autonomic ...	ORPHA:369873
Congenital Microcoria	Blindness, Axial myopia, Nyctalopia, Blurred vision, Photophobia, Iris transillumination defect, ...	ORPHA:566
Spastic Paraplegia 79B, Autosomal Recessive	Cerebellar atrophy, Myopia, Visual loss, Optic atrophy, Opto-chiasmatic atrophy, Reduced visual a...	OMIM:615491
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Obesity, Ventriculomegaly	ORPHA:521390
Autosomal Recessive Polycystic Kidney Disease	Reduced circulating vitamin A concentration, Low levels of vitamin D, Decreased circulating vitam...	ORPHA:731
White-Sutton Syndrome	Cerebellar atrophy, Myopia, Blindness, Optic atrophy, Hypermetropia, Subcortical cerebral atrophy...	ORPHA:468678
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Myopia, Retinal dystrophy, Chorioretinal...	ORPHA:2526
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Rod-cone dystrophy, Nyctalopia, Peripheral visual field loss, Hypoautofluorescent retinal lesion,...	OMIM:250410
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Reduced visual acuity, Hypoplasia of the iris, Anterior ...	OMIM:604229
Osteopetrosis, Autosomal Recessive 8	Facial palsy, Optic atrophy, Unilateral microphthalmos	OMIM:615085
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Microphthalmia, Coloboma	OMIM:613153
Microcephaly 27, Primary, Autosomal Dominant	Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Primary microcephaly	OMIM:619180
Mmep Syndrome	Microphthalmia	ORPHA:3434
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Blindness, Diffuse cerebral atrophy, Decreased ne...	ORPHA:206436
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Optic disc pallor	OMIM:300887
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy	OMIM:612291
Intellectual Developmental Disorder, Autosomal Recessive 46	Ventriculomegaly, Large for gestational age	OMIM:616116
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Macrocephaly, Small for gestational age, Hydrocephalus, Microcephaly	OMIM:613330
Aica-Ribosuria Due To Atic Deficiency	Congenital blindness, Optic atrophy	OMIM:608688
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Ventriculomegaly	ORPHA:85179
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Decreased adenosylcobalamin, Reduced visual acuity, Decreased methylcobal...	OMIM:277400
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Marshall-Smith Syndrome	Blue sclerae, Optic atrophy	ORPHA:561
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Congenital Bile Acid Synthesis Defect Type 3	Abnormality of vitamin metabolism	ORPHA:79302
Stickler Syndrome, Type Ii	Retinal detachment, Abnormal vitreous humor morphology	OMIM:604841
Nance-Horan Syndrome	Retinal detachment, Microphthalmia	ORPHA:627
Microphthalmia, Syndromic 5	Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Coloboma, Microphthalmia	OMIM:610125
Albinism, Oculocutaneous, Type Vii	Albinism, Reduced visual acuity, Photophobia, Iris transillumination defect, High hypermetropia	OMIM:615179
Mitochondrial Complex I Deficiency, Nuclear Type 4	Blindness, Brain atrophy	OMIM:618225
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Failure to thrive, Ventriculomegaly, Microcephaly	OMIM:619556
Classic Homocystinuria	Retinal detachment, Myopia, Abnormality of retinal pigmentation, Amblyopia, Optic atrophy, Abnorm...	ORPHA:394
Neurodevelopmental Disorder With Absent Language And Variable Seizures	Cafe-au-lait spot, Blue sclerae, Reduced visual acuity	OMIM:618707
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Infantile Nephropathic Cystinosis	Photophobia, Pigmentary retinopathy, Abnormality of vitamin D metabolism	ORPHA:411629
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Holoprosencephaly, Macrocephaly, Ventriculomegaly	ORPHA:93274
Microcephaly 20, Primary, Autosomal Recessive	Blindness, Optic nerve hypoplasia	OMIM:617914
Bardet-Biedl Syndrome 1	Myopia, Bone spicule pigmentation of the retina, Retinal dystrophy, Aganglionic megacolon, Hypera...	OMIM:209900
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Reduced visual acuity, Hypoplastic iris stroma, Macular hypoplasia, Anir...	ORPHA:2334
Hereditary Methemoglobinemia	Cerebellar atrophy, Temporal cortical atrophy, Blue sclerae, Frontal cortical atrophy, Global bra...	ORPHA:621
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Retinal thinning, Asteroid hyalosis	OMIM:132450
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Stillbirth	OMIM:276950
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Bardet-Biedl Syndrome 20	Papilledema, Constriction of peripheral visual field, Nyctalopia, Hypermetropia, Hemeralopia, Ret...	OMIM:619471
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Retinal dystrophy, Chorioretinal coloboma, Microphthalmia, Iris coloboma	ORPHA:139471
Hermansky-Pudlak Syndrome 7	Ocular albinism, Reduced visual acuity, Visual impairment, Albinism	OMIM:614076
Wolfram Syndrome 1	Pigmentary retinopathy, Optic atrophy, Cerebral atrophy	OMIM:222300
Bile Acid Synthesis Defect, Congenital, 6	Low levels of vitamin D	OMIM:617308
Stickler Syndrome Type 1	Retinal detachment, Abnormal vitreous humor morphology	ORPHA:90653
Bone Marrow Failure Syndrome 3	Myopia, Retinal dystrophy, Decreased circulating vitamin E concentration, Hypermetropia, Hypomela...	OMIM:617052
Kohlschutter-Tonz Syndrome	Ventriculomegaly, Microcephaly	OMIM:226750
Developmental And Epileptic Encephalopathy 65	Ventriculomegaly, Microcephaly	OMIM:618008
Autosomal Recessive Primary Microcephaly	Ventriculomegaly, Microcephaly	ORPHA:2512
Prolidase Deficiency	Abnormality of retinal pigmentation, White forelock, Visual impairment	ORPHA:742
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Sympathetic Ophthalmia	Papilledema, Retinal detachment, Vitreous floaters, Poliosis, Vitritis, Retinal hemorrhage, Reduc...	ORPHA:79098
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology, Nyctalopia	OMIM:160565
Coats Disease	Exudative retinal detachment, Leukocoria, Retinal telangiectasia	OMIM:300216
Pelvis-Shoulder Dysplasia	Microphthalmia, Optic disc coloboma, Iris coloboma	OMIM:169550
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Failure to thrive, Ventriculomegaly, Microcephaly	OMIM:618603
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Coloboma, Retinal degeneration, Abnormally large globe	OMIM:615249
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Ventriculomegaly, Macrocephaly	OMIM:175700
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Reduced visual acuity, Optic ...	OMIM:614195
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus, Microcephaly	ORPHA:398189
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Hermansky-Pudlak Syndrome 5	Hypoplasia of the fovea, Albinism, Ocular albinism, Reduced visual acuity, Iris transillumination...	OMIM:614074
Pallister-Hall-Like Syndrome	Occipital encephalocele, Macrocephaly, Hydrocephalus, Microcephaly	OMIM:241800
Intellectual Developmental Disorder, Autosomal Dominant 70	Failure to thrive, Hydrocephalus, Postnatal macrocephaly, Microcephaly	OMIM:620157
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Ventriculomegaly, Microcephaly	ORPHA:1495
Congenital Disorder Of Glycosylation, Type Iih	Failure to thrive in infancy, Ventriculomegaly, Microcephaly	OMIM:611182
Mevalonic Aciduria	Blue sclerae, Cerebral cortical atrophy	ORPHA:29
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Failure to thrive, Ventriculomegaly, Macrocephaly	ORPHA:60040
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Holoprosencephaly	ORPHA:2182
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	High serum calcitriol, Angioid streaks of the fundus	OMIM:211900
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Reduce...	ORPHA:790
Pseudoxanthoma Elasticum	Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of the fundus, Optic disc druse...	OMIM:264800
Hyperostosis Cranialis Interna	Facial palsy, Optic atrophy, Reduced visual acuity	OMIM:144755
Houge-Janssens Syndrome 1	Hydrocephalus, Ventriculomegaly, Macrocephaly	OMIM:616355
Neuronal Intranuclear Inclusion Disease	CSF pleocytosis, Increased CSF protein concentration, Ventriculomegaly	OMIM:603472
Xeroderma Pigmentosum, Complementation Group B	Cerebellar atrophy, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy, F...	OMIM:610651
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Optic atrophy, Coloboma	OMIM:612379
Infantile Sialic Acid Storage Disease	Hydrocephalus, Failure to thrive	OMIM:269920
Marchiafava-Bignami Disease	Abnormality of vision, Low levels of vitamin B1, Diplopia, Facial palsy	ORPHA:221074
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased CSF lactate, Small for gestational age, Ventriculomegaly, Microcephaly	OMIM:312170
Xfe Progeroid Syndrome	Blindness, Optic atrophy, Visual impairment, Attenuation of retinal blood vessels	OMIM:610965
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Ventriculomegaly	OMIM:206570
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Ventriculomegaly, Macrocephaly	OMIM:109120
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Ventriculomegaly	OMIM:618577
Pontocerebellar Hypoplasia, Type 1F	Blue sclerae, Cerebral atrophy	OMIM:619304
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Abnormality of peripheral nerve conduction	ORPHA:48431
Leukodystrophy, Hypomyelinating, 12	Cerebellar atrophy, Cerebral visual impairment, Optic atrophy, Reduced visual acuity, Abnormal au...	OMIM:616683
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Small for gestational age, Microcephaly, Truncal obesity, Ventriculome...	OMIM:300957
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus, Microcephaly	OMIM:300558
Cherubism	Constriction of peripheral visual field, Macular scar, Optic neuropathy, Reduced visual acuity, M...	OMIM:118400
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus, Obesity, Macrocephaly	ORPHA:2180
White Forelock With Malformations	Myopia, Blue sclerae, White forelock	ORPHA:2475
Maxillonasal Dysplasia	Low levels of vitamin K	ORPHA:1248
6Q25 Microdeletion Syndrome	Failure to thrive, Ventriculomegaly, Microcephaly	ORPHA:251056
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Ventriculomegaly	ORPHA:272
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Microcephaly, Hydrocephalus, Hydranencephaly, Dandy-Walker malformation, Ventriculomegaly	OMIM:225790
Adams-Oliver Syndrome 2	Macrocephaly, Hydrocephalus, Lateral ventricle dilatation, Microcephaly	OMIM:614219
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Constriction of peripheral visual field, Reduced visual acuity, Perifoveal ring of hyperautofluor...	OMIM:240300
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Secondary microcephaly, Ventriculomegaly	OMIM:617290
Incontinentia Pigmenti	Retinal detachment, Abnormal chorioretinal morphology, Retinal vascular proliferation, Retinal he...	ORPHA:464
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Myopia, Retinal atrophy, Blindness, Optic nerve hypoplasia, Optic atrophy, Re...	OMIM:236670
Temtamy Preaxial Brachydactyly Syndrome	Abnormal optic disc morphology, Blue sclerae, Optic atrophy	ORPHA:363417
Laron Syndrome	Blue sclerae	OMIM:262500
Chromosome 19P13.13 Deletion Syndrome	Macrocephaly, Ventriculomegaly, Microcephaly	OMIM:613638
Autosomal Recessive Spastic Paraplegia Type 44	Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Abnormality of soma...	ORPHA:320401
Leukodystrophy, Hypomyelinating, 24	Ventriculomegaly, Microcephaly	OMIM:619851
Phakomatosis Pigmentovascularis	Generalized hyperpigmentation, Blue sclerae, Cerebral cortical atrophy, Hypopigmented skin patches	ORPHA:2875
Intellectual Developmental Disorder, Autosomal Recessive 41	Ventriculomegaly, Macrocephaly	OMIM:615637
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:2235
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pigmentary retinopathy	OMIM:600462
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:163961
Cohen Syndrome	Abnormality of retinal pigmentation, Chorioretinal dystrophy, Myopia, Optic atrophy, Abnormality ...	ORPHA:193
Autosomal Recessive Stickler Syndrome	Retinal detachment, Vitreoretinopathy	ORPHA:250984
Meckel Syndrome, Type 4	Encephalocele, Microcephaly, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation	OMIM:611134
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Spondylo-Ocular Syndrome	Retinal detachment, Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Central Precocious Puberty In Male	Hydrocephalus	ORPHA:649929
Leukodystrophy, Hypomyelinating, 25	Blue sclerae	OMIM:620243
Alpers-Huttenlocher Syndrome	Abnormality of vision, Blindness	ORPHA:726
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Decreased body weight, Ventriculomegaly, Microcephaly	OMIM:300958
Bresek Syndrome	Microphthalmia, Iris coloboma, Aganglionic megacolon, Optic nerve hypoplasia	ORPHA:85284
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia, Ventriculomegaly, Microcephaly	ORPHA:1933
Glutaric Acidemia I	Hydrocephalus, Failure to thrive, Lateral ventricle dilatation, Macrocephaly	OMIM:231670
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	Ventriculomegaly, Progressive microcephaly, Microcephaly	OMIM:615760
Peroxisome Biogenesis Disorder 2A (Zellweger)	Brushfield spots, Pigmentary retinopathy, Optic nerve dysplasia	OMIM:214110
Bardet-Biedl Syndrome	Pigmentary retinopathy	ORPHA:110
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Blindness, Decreased nerve conduction velocity, V...	ORPHA:206443
Gm1 Gangliosidosis	Blindness, Abnormal retinal vascular morphology, Optic atrophy, Retinopathy of prematurity, Cherr...	ORPHA:354
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Nyctalopia	OMIM:277350
Mevalonic Aciduria	Cerebellar atrophy, Optic disc pallor, Cerebral atrophy, Blue sclerae, Attenuation of retinal blo...	OMIM:610377
Microcephalic Primordial Dwarfism, Toriello Type	Ventriculomegaly, Microcephaly	ORPHA:2643
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Curry-Jones Syndrome	Microphthalmia, Optic disc coloboma, Iris coloboma	ORPHA:1553
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Retinal detachment, Myopia, Hypermetropia, Abnormality of the brachial nerve plexus, Blue sclerae	ORPHA:1900
Ataxia-Deafness-Intellectual Disability Syndrome	Ventriculomegaly	ORPHA:1188
Plasminogen Deficiency, Type I	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Macrocephaly	OMIM:217090
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Multiple cafe-au-lait spots, Generalized hypopigmentation, Abnormality of retinal pigmentation, M...	ORPHA:1969
Galloway-Mowat Syndrome 5	Ventriculomegaly, Primary microcephaly	OMIM:617731
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Blindness, Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Congeni...	OMIM:259770
Nasu-Hakola Disease	Hydrocephalus, Ventriculomegaly	ORPHA:2770
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Microcephaly, Hydrocephalus, Colpocephaly, Macrocephaly, Ventriculom...	OMIM:615219
Aceruloplasminemia	Abnormality of retinal pigmentation, Decreased circulating ceruloplasmin concentration, Diabetes ...	ORPHA:48818
Secondary Short Bowel Syndrome	Abnormality of vitamin metabolism, Aganglionic megacolon	ORPHA:95427
Brain Small Vessel Disease 2	Ventriculomegaly	OMIM:614483
Warburg Micro Syndrome 2	Undetectable visual evoked potentials, Microphthalmia, Optic atrophy	OMIM:614225
Thanatophoric Dysplasia	Hydrocephalus, Ventriculomegaly, Macrocephaly	ORPHA:2655
Mucopolysaccharidosis Type 3	Myopia, Blindness, Constriction of peripheral visual field, Nyctalopia, Optic atrophy, Central ne...	ORPHA:581
Achondrogenesis Type 2	Retinal detachment, Abnormal vitreous humor morphology	ORPHA:93296
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Immunoneurologic Disorder, X-Linked	Nyctalopia	OMIM:300076
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Kearns-Sayre Syndrome	Pigmentary retinopathy	OMIM:530000
Brittle Cornea Syndrome 1	Red hair, Myopia, Blue sclerae, Visual loss	OMIM:229200
Otodental Syndrome	Microphthalmia, Lens coloboma, Retinal coloboma, Iris coloboma	ORPHA:2791
Hogue-Janssen Syndrome 2	Hydrocephalus, Ventriculomegaly, Microcephaly	OMIM:616362
Developmental And Epileptic Encephalopathy 9	Ventriculomegaly	OMIM:300088
Edinburgh Malformation Syndrome	Hydrocephalus, Failure to thrive	ORPHA:1895
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Failure to thrive, Ventriculomegaly, Macrocephaly	ORPHA:500533
Juvenile Huntington Disease	Ventriculomegaly, Weight loss	ORPHA:248111
Grubben-De Cock-Borghgraef Syndrome	Blue sclerae	ORPHA:2101
Mitochondrial Complex I Deficiency, Nuclear Type 19	Secondary microcephaly, Ventriculomegaly	OMIM:618241
Walker-Warburg Syndrome	Retinal detachment, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia, Optic atrophy, Abno...	ORPHA:899
Cryptococcosis	Blindness, Abnormal retinal morphology, Vitritis, Abnormality of vision, Abnormal optic nerve mor...	ORPHA:1546
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Ventriculomegaly, Microcephaly	ORPHA:457260
Intellectual Developmental Disorder, Autosomal Dominant 51	Failure to thrive, Ventriculomegaly, Macrocephaly	OMIM:617788
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Microcephaly, Hydrocephalus, Colpocephaly, Failure to thrive, Ventriculomegaly	OMIM:619833
Musculocontractural Ehlers-Danlos Syndrome	Retinal detachment, Myopia, Blue sclerae	ORPHA:2953
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Oculogastrointestinal Neurodevelopmental Syndrome	Coloboma, Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Xq21 Microdeletion Syndrome	Abnormal chorioretinal morphology, Chorioretinal degeneration, Reticular pigmentary degeneration,...	ORPHA:1435
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Slender build, Ventriculomegaly, Macrocephaly	OMIM:611087
X-Linked Immunoneurologic Disorder	Nyctalopia	ORPHA:2571
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Neurodevelopmental Disorder With Involuntary Movements	Ventriculomegaly, Microcephaly	OMIM:617493
Friedreich Ataxia	Optic atrophy, Reduced visual acuity, Visual field defect, Decreased sensory nerve conduction vel...	OMIM:229300
Sandhoff Disease	Cherry red spot of the macula, Blindness, Orthostatic hypotension	OMIM:268800
Autosomal Dominant Optic Atrophy And Cataract	Cerebellar atrophy, Blindness, Red-green dyschromatopsia, Central scotoma, Optic atrophy, Reduced...	ORPHA:67036
Momo Syndrome	Blindness, Chorioretinal coloboma	ORPHA:2563
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Morning glory anomaly, Phthisis bulbi, Chorioretinal...	OMIM:612109
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Abnormality of visua...	OMIM:601152
Trisomy 13	Anophthalmia, Abnormal retinal vascular morphology, Optic atrophy, Aplasia/Hypoplasia of the iris...	ORPHA:3378
Temtamy Syndrome	Microphthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:218340
L1 Syndrome	Aqueductal stenosis, Hydrocephalus	ORPHA:275543
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Ventriculomegaly, Macrocephaly	OMIM:603387
Baraitser-Winter Syndrome 2	Microphthalmia, Coloboma	OMIM:614583
20P12.3 Microdeletion Syndrome	Ventriculomegaly, Macrocephaly	ORPHA:261295
Kapur-Toriello Syndrome	Microphthalmia, Retinal coloboma, Iris coloboma	ORPHA:2328
Osteopetrosis, Autosomal Recessive 9	Papilledema, Reduced visual acuity	OMIM:620366
Basal Cell Nevus Syndrome 2	Hydrocephalus, Macrocephaly	OMIM:620343
Neuromuscular Oculoauditory Syndrome	Decreased nerve conduction velocity, Chorioretinal lacunae, Decreased amplitude of sensory action...	OMIM:618733
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Microcephaly, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holopros...	ORPHA:1908
Pierpont Syndrome	Microphthalmia	OMIM:602342
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Fasting hyperinsulinemia, Hypoglycemic seizures, Pigmentary retinopathy, Hypoketotic hypoglycemia...	ORPHA:71212
Primary Intestinal Lymphangiectasia	Low levels of vitamin D, Abnormality of vitamin metabolism	ORPHA:90362
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Retinal detachment, Myopia, Blue sclerae, Blindness	OMIM:225400
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy	OMIM:609015
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Blindness, Retinal telangiectasia, Optic atrophy, Premature graying of hair, Exudative retinopathy	OMIM:612199
Parietal Foramina 1	Blue sclerae	OMIM:168500
Methylcobalamin Deficiency Type Cble	Hydrocephalus, Failure to thrive, Ventriculomegaly, Microcephaly	ORPHA:2169
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Blindness	OMIM:618731
Bile Acid Synthesis Defect, Congenital, 4	Decreased circulating calcifediol concentration, Decreased circulating vitamin E concentration	OMIM:214950
Tay-Sachs Disease	Cerebellar atrophy, Blindness, Optic atrophy, Cherry red spot of the macula, Visual impairment, G...	ORPHA:845
Isolated Complex I Deficiency	Optic disc pallor, Blindness, Optic neuropathy	ORPHA:2609
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Optic atrophy, Iris coloboma, Chorioretinal coloboma	ORPHA:494344
Mucopolysaccharidosis, Type Ii	Neurodegeneration, Papilledema, Abnormality of retinal pigmentation	OMIM:309900
Joubert Syndrome 31	Ventriculomegaly	OMIM:617761
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hydrocephalus, Obesity	ORPHA:171839
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly	OMIM:613443
Alpha-N-Acetylgalactosaminidase Deficiency	Blindness, Cerebral cortical atrophy	ORPHA:3137
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Retinal detachment, Microphthalmia, Hypopigmentation of the fundus	ORPHA:163649
Tubulinopathy-Associated Dysgyria	Macrocephaly, Ventriculomegaly, Microcephaly	ORPHA:467166
Rahman Syndrome	Ventriculomegaly, Macrocephaly	OMIM:617537
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Blindness	OMIM:614514
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Cerebellar atrophy, Blue sclerae, Cerebral atrophy	OMIM:619286
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Blue sclerae	ORPHA:2324
Oculocutaneous Albinism Type 1A	Hypoplasia of the fovea, Ocular albinism, Abnormal optic nerve morphology, Abnormality of visual ...	ORPHA:79431
Myopathic Ehlers-Danlos Syndrome	Myopia, Blue sclerae	ORPHA:536516
Pyruvate Dehydrogenase E1-Alpha Deficiency	Blindness, Cerebral atrophy	ORPHA:79243
1Q44 Microdeletion Syndrome	Hydrocephalus, Biparietal narrowing, Ventriculomegaly, Microcephaly	ORPHA:238769
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hydrocephalus, Failure to thrive, Secondary microcephaly, Dandy-Walker malformation	OMIM:612938
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Blue sclerae	OMIM:259410
Adrenoleukodystrophy	Visual loss, Blindness, Neurodegeneration, Hyperpigmentation of the skin	OMIM:300100
Joubert Syndrome 5	Congenital blindness, Rod-cone dystrophy, Retinal coloboma, Reduced visual acuity	OMIM:610188
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Blue sclerae	ORPHA:457365
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Relative macrocephaly, Failure to thrive, Microcephaly, Overweight, Hydrocephalus, Dilated third ...	ORPHA:500055
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus, Macrocephaly	OMIM:300863
Cartilage-Hair Hypoplasia	Abnormality of retinal pigmentation, Myopia, Aganglionic megacolon, Blue sclerae, High hypermetro...	ORPHA:175
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Pigmentary retinopathy, Optic atrophy	ORPHA:436271
B4Galt1-Cdg	Hydrocephalus, Small for gestational age, Dandy-Walker malformation	ORPHA:79332
Hydranencephaly	Blindness, Optic nerve hypoplasia, Chorioretinal atrophy, Abnormality of vision, Cerebral cortica...	ORPHA:2177
Asparagine Synthetase Deficiency	Blindness, Caudate atrophy, Optic nerve hypoplasia, Cerebral visual impairment, Global brain atrophy	OMIM:615574
Silver-Russell Syndrome 2	Blue sclerae	OMIM:618905
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Pigmentary retinopathy	ORPHA:502423
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia	OMIM:164180
Papillorenal Syndrome	Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio...	OMIM:120330
Cog8-Cdg	Ventriculomegaly, Failure to thrive, Progressive microcephaly	ORPHA:95428
Chédiak-Higashi Syndrome	Cerebellar atrophy, Abnormality of retinal pigmentation, Hypopigmentation of hair, Decreased nerv...	ORPHA:167
Autosomal Recessive Cutis Laxa Type 2A	Blue sclerae, Abnormal isoelectric focusing of serum transferrin, High myopia	ORPHA:357058
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ventriculomegaly, Microcephaly	ORPHA:2772
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Blue sclerae, Cerebral atrophy	OMIM:615539
Dysosteosclerosis	Blindness, Facial paralysis, Optic atrophy	OMIM:224300
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Blindness, Retinal dystrophy, Chorioretinal dysplasia, Ambly...	ORPHA:2556
Congenital Disorder Of Glycosylation, Type Iil	Hydrocephalus, Failure to thrive, Ventriculomegaly, Microcephaly	OMIM:614576
Holoprosencephaly 14	Ventriculomegaly, Microcephaly, Aqueductal stenosis, Alobar holoprosencephaly, Hydrocephalus, Sub...	OMIM:619895
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Myopia, Blindness, Aganglionic megacolon, Optic atrophy, Cerebral cortical atrophy	ORPHA:847
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Blue sclerae	ORPHA:231137
Muenke Syndrome	Hydrocephalus, Macrocephaly	ORPHA:53271
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy	OMIM:617675
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Blue sclerae	ORPHA:157965
Linear Verrucous Nevus Syndrome	Ventriculomegaly, Dandy-Walker malformation, Macrocephaly	ORPHA:2611
Grant Syndrome	Blue sclerae	ORPHA:2097
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus	ORPHA:2181
Frontonasal Dysplasia 1	Microphthalmia, Coloboma	OMIM:136760
Desbuquois Syndrome	Blue sclerae	ORPHA:1425
Myopathy, Centronuclear, X-Linked	Hydrocephalus, Dandy-Walker malformation, Macrocephaly	OMIM:310400
Craniofacial Dyssynostosis With Short Stature	Hydrocephalus, Ventriculomegaly	OMIM:218350
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Photophobia, Optic disc pallor, Constriction of peripheral visual field, Reduced visual acuity	OMIM:618527
Pseudodiastrophic Dysplasia	Blue sclerae	OMIM:264180
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Macular coloboma, Atrophy of the spinal cord, Optic atrophy, Cerebral atr...	ORPHA:79282
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Rod-cone dystrophy, Blue sclerae, Cerebral visual impairment	ORPHA:488642
Combined D-2- And L-2-Hydroxyglutaric Aciduria	Macrocephaly, Ventriculomegaly, Microcephaly	OMIM:615182
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Hypermelanotic macule, Optic atrophy, Photophobia, Pigmentar...	ORPHA:90321
Coach Syndrome 2	Hydrocephalus	OMIM:619111
Baraitser-Winter Syndrome 1	Microphthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:243310
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Myopia, Ectopia pupillae, Optic atrophy, Reduced visual acuity	OMIM:618727
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy	OMIM:220110
Folate Malabsorption, Hereditary	Reduced blood folate concentration	OMIM:229050
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Chiari Malformation Type Ii	Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida	OMIM:207950
Vitamin K Antagonist Embryofetopathy	Hydrocephalus, Myelomeningocele	ORPHA:1914
Desmosterolosis	Relative macrocephaly, Microcephaly, Hydrocephalus, Macrocephaly, Failure to thrive, Ventriculome...	OMIM:602398
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Pettigrew Syndrome	Microcephaly, Aqueductal stenosis, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly	OMIM:304340
Cystinosis, Nephropathic	Hypopigmentation of the skin, Hypopigmentation of hair, Blindness, Retinal pigment epithelial mot...	OMIM:219800
Grant Syndrome	Blue sclerae	OMIM:138930
Werner Syndrome	Premature graying of hair, Abnormality of retinal pigmentation, White forelock	ORPHA:902
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Coffin-Lowry Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortical atrophy	ORPHA:192
Mitochondrial Complex I Deficiency, Nuclear Type 37	Increased CSF lactate, Failure to thrive, Ventriculomegaly, Microcephaly	OMIM:619272
Anterior Segment Dysgenesis 2	Coloboma, Anterior segment of eye aplasia, Aniridia, Microphthalmia, Congenital aphakia	OMIM:610256
Metatropic Dysplasia	Hydrocephalus	ORPHA:2635
Chediak-Higashi Syndrome	Hypopigmentation of hair, Decreased nerve conduction velocity, Silver-gray hair, Ocular albinism,...	OMIM:214500
Ring Chromosome 10 Syndrome	Microphthalmia, Aganglionic megacolon	ORPHA:1438
Orofaciodigital Syndrome Xvii	Ventriculomegaly, Decreased body weight	OMIM:617926
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Coloboma	OMIM:618652
Solitary Median Maxillary Central Incisor	Microphthalmia, Cyclopia, Anophthalmia, Coloboma	OMIM:147250
Spinocerebellar Ataxia, Autosomal Recessive 3	Blindness	OMIM:271250
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Rabin-Pappas Syndrome	Failure to thrive in infancy, Microcephaly, Hydrocephalus, Obesity, Postnatal macrocephaly	OMIM:620155
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of peripheral somatosensory evoked potentials, Abnormality of retinal pigmentation, C...	ORPHA:466768
Joubert Syndrome 14	Coloboma, Microphthalmia, Optic atrophy, Morning glory anomaly	OMIM:614424
Warburg Micro Syndrome 4	Decreased motor nerve conduction velocity, Microphthalmia, Optic atrophy	OMIM:615663
Congenital Myopathy 20	Blue sclerae	OMIM:620310
Pontocerebellar Hypoplasia, Type 2E	Microcephaly, Progressive microcephaly, Secondary microcephaly, Failure to thrive, Ventriculomegaly	OMIM:615851
Meckel Syndrome, Type 8	Microphthalmia, Anophthalmia	OMIM:613885
Emanuel Syndrome	Dandy-Walker malformation, Microcephaly, Hydrocephalus, Failure to thrive, Ventriculomegaly	OMIM:609029
Hallermann-Streiff Syndrome	Optic disc coloboma, Blue sclerae, Iris coloboma, Chorioretinal coloboma	OMIM:234100
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hydrocephalus, Decreased body weight, Microcephaly	OMIM:614886
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Myopia, Generalized hyperpigmentation, Hypopigmented skin pa...	ORPHA:636
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Blue sclerae	ORPHA:464288
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy, Abnormality of visual evok...	ORPHA:485421
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Microcephaly, Ventriculomegaly, Macrocephaly	OMIM:617903
Lead Poisoning	Abnormality of the autonomic nervous system, Low levels of vitamin D, Abnormality of vitamin D me...	ORPHA:330015
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Blue sclerae	OMIM:616817
Triploidy	Hydrocephalus, Meningocele, Holoprosencephaly, Macrocephaly	ORPHA:3376
Microhydranencephaly	Hydranencephaly, Ventriculomegaly, Microcephaly	OMIM:605013
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hydrocephalus	ORPHA:2701
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Lateral ventricle dilatation, Extra-axial cerebrospinal fluid accumulation, Macrocephaly, Spina b...	OMIM:618291
Gm1 Gangliosidosis Type 1	Cherry red spot of the macula, Blindness, Diffuse cerebral atrophy	ORPHA:79255
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Ventriculomegaly, Macrocephaly	OMIM:616538
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Thanatophoric Dysplasia, Type I	Neonatal death, Hydrocephalus, Macrocephaly	OMIM:187600
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Abnormal blood folate concentration, Decreased CSF 5-methyltetrahydrofolate concentration	OMIM:613839
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome	Blue sclerae	ORPHA:2840
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Coloboma	OMIM:167730
Osteogenesis Imperfecta, Type V	Blue sclerae	OMIM:610967
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Ophthalmomandibulomelic Dysplasia	Blindness	ORPHA:2741
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy	ORPHA:746
Osteogenesis Imperfecta, Type Ix	Blue sclerae	OMIM:259440
Congenital-Onset Steinert Myotonic Dystrophy	Decreased body weight, Obesity, Ventriculomegaly, Macrocephaly	ORPHA:589821
Congenital Bile Acid Synthesis Defect Type 1	Nyctalopia	ORPHA:79301
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	High serum calcitriol	OMIM:600785
Osteogenesis Imperfecta, Type Xix	Blue sclerae	OMIM:301014
Rhombencephalosynapsis	Hydrocephalus, Ventriculomegaly, Macrocephaly	ORPHA:59315
Diastrophic Dysplasia	Blue sclerae	ORPHA:628
Non-24-Hour Sleep-Wake Syndrome	Blindness	ORPHA:73267
Musk, Inability To Smell	Blindness	OMIM:254150
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia	ORPHA:93267
X-Linked Intellectual Disability, Cantagrel Type	Ventriculomegaly	ORPHA:85277
Classic Galactosemia	Low levels of vitamin D	ORPHA:79239
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Macular edema, Re...	ORPHA:91500
Silver-Russell Syndrome 1	Cafe-au-lait spot, Blue sclerae	OMIM:180860
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy	OMIM:125310
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus, Failure to thrive, Microcephaly	OMIM:612940
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Blindness	OMIM:204850
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia, Iris coloboma	OMIM:269400
Epidermal Nevus Syndrome	Hyperpigmentation of the skin, Atrophy of the spinal cord, Low levels of vitamin D, Hypopigmentat...	ORPHA:35125
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Abno...	ORPHA:50
Peho Syndrome	Hydrocephalus, Biparietal narrowing, Ventriculomegaly, Microcephaly	ORPHA:2836
Mucopolysaccharidosis Type 2	Papilledema, Abnormality of retinal pigmentation, Large central visual field defect, Abnormal fov...	ORPHA:580
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Blue sclerae	OMIM:612350
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus	ORPHA:93262
Autosomal Dominant Hypophosphatemic Rickets	Low levels of vitamin D	ORPHA:89937
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Brain Malformations With Or Without Urinary Tract Defects	Failure to thrive, Ventriculomegaly, Macrocephaly	OMIM:613735
Hyper-Igd Syndrome	Optic disc pallor, Nyctalopia, Rod-cone dystrophy	OMIM:260920
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Blue sclerae	ORPHA:391408
Diabetic Embryopathy	Hydrocephalus, Spinal dysraphism, Microcephaly	ORPHA:1926
Laron Syndrome	Blue sclerae	ORPHA:633
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Septo-optic dysplasia, Optic atrophy, Iris coloboma	ORPHA:3301
Linear Skin Defects With Multiple Congenital Anomalies 1	Pigmentary retinopathy, Iris coloboma, High myopia	OMIM:309801
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus	OMIM:617542
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Polycoria, Reduced visual acuity, Anterior ...	ORPHA:64734
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Blindness, Optic nerve dysplasia, Retinal dysplasia	OMIM:615287
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Cerebellar atrophy, Abnormal vitamin B12 level, Cerebral visual impairment	ORPHA:544503
Fanconi Anemia, Complementation Group R	Hydrocephalus, Microcephaly	OMIM:617244
Congenital Disorder Of Glycosylation, Type If	Failure to thrive, Ventriculomegaly, Microcephaly	OMIM:609180
Joubert Syndrome 9	Encephalocele, Ventriculomegaly	OMIM:612285
Arima Syndrome	Blindness, Optic atrophy, Retinal dystrophy, Chorioretinal coloboma	OMIM:243910
Sandestig-Stefanova Syndrome	Small for gestational age, Ventriculomegaly, Primary microcephaly	OMIM:618804
Thanatophoric Dysplasia Type 1	Hydrocephalus, Ventriculomegaly, Macrocephaly	ORPHA:1860
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Failure to thrive, Ventriculomegaly, Microcephaly	ORPHA:431361
Hb Bart'S Hydrops Fetalis	Hydrocephalus	ORPHA:163596
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
De Barsy Syndrome	Blue sclerae, High myopia, Abnormal fundus fluorescein angiography	ORPHA:2962
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Ventriculomegaly, Microcephaly	ORPHA:171680
Beck-Fahrner Syndrome	Extra-axial cerebrospinal fluid accumulation, Microcephaly, Ventriculomegaly, Macrocephaly	OMIM:618798
Celiac Disease, Susceptibility To, 1	Vitamin B12 deficiency, Low levels of vitamin D, Reduced blood folate concentration, Low levels o...	OMIM:212750
Osteogenesis Imperfecta, Type Xiv	Blue sclerae	OMIM:615066
Oculofaciocardiodental Syndrome	Retinal detachment, Microphthalmia, Iris coloboma	ORPHA:2712
Tenorio Syndrome	Hydrocephalus, Ventriculomegaly, Macrocephaly	OMIM:616260
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Ventriculomegaly, Colpocephaly	OMIM:620156
Alkuraya-Kucinskas Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Macrocephaly	OMIM:617822
Arachnoiditis	Hydrocephalus	ORPHA:137817
Chromosome 8Q21.11 Deletion Syndrome	Pigmentary retinopathy	OMIM:614230
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Blue sclerae, Cerebellar vermis atrophy	OMIM:617101
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hydrocephalus, Failure to thrive, Ventriculomegaly, Microcephaly	ORPHA:395
Kapur-Toriello Syndrome	Microphthalmia, Retinal coloboma, Iris coloboma	OMIM:244300
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Macrocephaly	OMIM:618476
Emanuel Syndrome	Dandy-Walker malformation, Microcephaly, Hydrocephalus, Failure to thrive, Ventriculomegaly	ORPHA:96170
Malan Overgrowth Syndrome	Lateral ventricle dilatation, Ventriculomegaly, Macrocephaly	ORPHA:420179
Achondroplasia	Hydrocephalus, Obesity, Macrocephaly	ORPHA:15
Ritscher-Schinzel Syndrome 3	Microphthalmia, Chorioretinal coloboma	OMIM:619135
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Trisomy 1Q	Hydrocephalus, Ventriculomegaly, Macrocephaly	ORPHA:261344
Peroxisome Biogenesis Disorder 1A (Zellweger)	Brushfield spots, Optic disc pallor, Cerebral cortical atrophy, Pigmentary retinopathy	OMIM:214100
Phace Association	Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Increased retinal vascularity, Microphtha...	OMIM:606519
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia, Optic atrophy	OMIM:234050
Herpes Simplex Virus Stromal Keratitis	Blindness, Reduced visual acuity	ORPHA:137599
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	High serum calcitriol, High serum calcifediol	OMIM:241530
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Global brain atrophy, Reduced blood folate concentration, Optic nerve hypoplasia, Hypermetropia	OMIM:301056
Osteopetrosis With Renal Tubular Acidosis	Retinal atrophy, Abnormal retinal morphology, Cranial nerve compression, Optic atrophy, Blue sclerae	ORPHA:2785
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Congenital Disorder Of Glycosylation, Type Iit	Low levels of vitamin D, Abnormal protein O-linked glycosylation	OMIM:618885
Crouzon Syndrome	Hydrocephalus	ORPHA:207
Luscan-Lumish Syndrome	Obesity, Ventriculomegaly, Macrocephaly	OMIM:616831
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Relative macrocephaly, Hydrocephalus, Dandy-Walker malformation	ORPHA:459061
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Retinal coloboma	OMIM:618571
Stevenson-Carey Syndrome	Microphthalmia, Coloboma	OMIM:611961
Pineoblastoma	Papilledema, Progressive visual field defects, Reduced visual acuity, Retinoblastoma, Amaurosis f...	ORPHA:251909
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Microcephaly	OMIM:617281
Braddock Syndrome	Blue sclerae	ORPHA:52047
Warburg Micro Syndrome 3	Microphthalmia, Optic atrophy	OMIM:614222
3C Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Macrocephaly	ORPHA:7
Trisomy 18	Abnormality of retinal pigmentation, Iris coloboma	ORPHA:3380
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Increased head circumferenc...	ORPHA:268810
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Nyctalopia, Optic a...	ORPHA:217085
Non-Functioning Pituitary Adenoma	Bitemporal hemianopia, Blindness, Diplopia, Hemianopia, Sudden loss of visual acuity, Heteronymou...	ORPHA:91349
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Macrocephaly, Failure to thrive	OMIM:608091
Tetrasomy 5P	Hydrocephalus, Failure to thrive, Macrocephaly	ORPHA:3309
Desmosterolosis	Microcephaly, Hydrocephalus, Macrocephaly, Failure to thrive, Ventriculomegaly	ORPHA:35107
Microcephaly 26, Primary, Autosomal Dominant	Extra-axial cerebrospinal fluid accumulation, Failure to thrive, Ventriculomegaly, Microcephaly	OMIM:619179
Spondylometaphyseal Dysplasia, Pagnamenta Type	Blue sclerae	OMIM:619638
Achalasia-Addisonianism-Alacrima Syndrome	Abnormality of visual evoked potentials, Orthostatic hypotension, Optic atrophy, Abnormal autonom...	OMIM:231550
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Decreased adenosylcobalamin, Decreased methylcobalamin	OMIM:277410
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia	OMIM:214150
Lowry-Maclean Syndrome	Visual loss, Blue sclerae	ORPHA:2409
1P31P32 Microdeletion Syndrome	Ventriculomegaly, Macrocephaly	ORPHA:401986
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cerebellar atrophy, Brushfield spots, Optic nerve dysplasia, Optic atrophy, Pigmentary retinopath...	OMIM:614866
Spondylodysplastic Ehlers-Danlos Syndrome	Myopia, Optic nerve hypoplasia, Optic disc coloboma, Blue sclerae, High hypermetropia, Iris coloboma	ORPHA:536471
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Decreased adenosylcobalamin, Decreased methylcobalamin	OMIM:614857
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Thanatophoric Dysplasia, Type Ii	Neonatal death, Ventriculomegaly	OMIM:187601
Developmental And Epileptic Encephalopathy 31B	Colpocephaly, Failure to thrive, Secondary microcephaly, Ventriculomegaly	OMIM:620352
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Nyctalopia, Optic a...	ORPHA:217093
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly	OMIM:219730
Gracile Bone Dysplasia	Hydrocephalus, Failure to thrive	OMIM:602361
Moebius Syndrome	Microphthalmia, Facial diplegia	OMIM:157900
Cole-Carpenter Syndrome 2	Hydrocephalus, Macrocephaly	OMIM:616294
Osteogenesis Imperfecta, Type Xv	Blue sclerae	OMIM:615220
Mitochondrial Complex I Deficiency, Nuclear Type 1	Cerebellar atrophy, Optic disc pallor, Blindness, Optic neuropathy	OMIM:252010
Microphthalmia, Lenz Type	Microphthalmia, Optic disc coloboma, Iris coloboma, Chorioretinal coloboma	ORPHA:568
Ritscher-Schinzel Syndrome 1	Hydrocephalus, Dandy-Walker malformation	OMIM:220210
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Blue sclerae	OMIM:620250
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Blue sclerae, Cerebral cortical atrophy, Visual impairment	ORPHA:488627
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Low serum calcitriol, Decreased circulating calcifediol concentration	OMIM:264700
Neurodegeneration With Brain Iron Accumulation 1	Optic atrophy, Pigmentary retinopathy, Neurodegeneration, Global brain atrophy, Cerebral degenera...	OMIM:234200
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Retinal atrophy, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the retina, Retinal dysplasi...	OMIM:253280
Fanconi Anemia, Complementation Group I	Microphthalmia, Optic nerve hypoplasia	OMIM:609053
Ramon Syndrome	Optic disc pallor, Pigmentary retinopathy	OMIM:266270
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Retinopathy	ORPHA:2505
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Microcephaly	OMIM:617669
Ectodermal Dysplasia-Blindness Syndrome	Abnormality of skin pigmentation, Blindness, Abnormality of vision	ORPHA:1806
Pseudo-Torch Syndrome 1	Failure to thrive, Increased CSF protein concentration, Ventriculomegaly, Microcephaly	OMIM:251290
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Retinal dystrophy, Optic nerve hypoplasia, Nyctalopia, Optic atrophy, Generalized hypopigmentatio...	OMIM:619321
Melas	Visual loss, Optic atrophy, Pigmentary retinopathy, Brain atrophy, Cerebral cortical atrophy, Vit...	ORPHA:550
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	High serum calcitriol	OMIM:617994
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Cerebellar atrophy, Myopia, Amblyopia, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrha...	OMIM:175780
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Oculocerebrocutaneous Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:1647
Lhermitte-Duclos Disease	Hydrocephalus, Macrocephaly	ORPHA:65285
Meningioma	Papilledema, Bitemporal hemianopia, Blindness, Facial palsy, Slow decrease in visual acuity, Visu...	ORPHA:2495
Ophthalmomandibulomelic Dysplasia	Blindness	OMIM:164900
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Failure to thrive, Overweight, Hydrocephalus, Lateral ventricle dilatation, Macrocephaly, Dilated...	OMIM:619575
Hyperprolinemia Type 2	Reduced circulating vitamin B6 level	ORPHA:79101
Goldberg-Shprintzen Megacolon Syndrome	Ventriculomegaly, Microcephaly	ORPHA:66629
Pontocerebellar Hypoplasia, Type 7	Ventriculomegaly, Hydrocephalus, Progressive microcephaly	OMIM:614969
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Myopia, Blue sclerae, Peripapillary atrophy	ORPHA:536467
Prolactinoma	Bitemporal hemianopia, Blindness, Diplopia, Hemianopia, Sudden loss of visual acuity, Heteronymou...	ORPHA:2965
Pyruvate Dehydrogenase E1-Beta Deficiency	Ventriculomegaly, Decreased body weight	ORPHA:255138
Cockayne Syndrome	Cerebellar atrophy, Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Reti...	ORPHA:191
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hydrocephalus, Ventriculomegaly, Macrocephaly	ORPHA:1812
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Progressive macrocephaly, Increased head circumference, Subependymal...	ORPHA:25
Joubert Syndrome With Renal Defect	Encephalocele, Hydrocephalus, Biparietal narrowing	ORPHA:220497
Proteus-Like Syndrome	Communicating hydrocephalus, Hydrocephalus, Macrocephaly	ORPHA:2969
Histidinuria-Renal Tubular Defect Syndrome	Ventriculomegaly	ORPHA:2158
Oxoglutaric Aciduria	Hydrocephalus	ORPHA:31
Neonatal Lupus Erythematosus	Hydrocephalus, Macrocephaly	ORPHA:398124
Fg Syndrome Type 1	Hydrocephalus, Slender build, Ventriculomegaly, Macrocephaly	ORPHA:93932
Fanconi Anemia, Complementation Group W	Ventriculomegaly, Microcephaly	OMIM:617784
Gorlin Syndrome	Hydrocephalus	ORPHA:377
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Retinal pigment epithelial mottling, Progressive vitiligo, Neurodege...	OMIM:251260
Ehlers-Danlos Syndrome, Classic Type, 1	Myopia, Blue sclerae	OMIM:130000
Chromosome 9P Deletion Syndrome	Fair hair, Myopia, Blue sclerae	OMIM:158170
Tetrasomy 15Q26	Hydrocephalus, Dandy-Walker malformation	OMIM:614846
Cerebrooculonasal Syndrome	Blindness	ORPHA:66625
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Decreased circulating calcifediol concentration	OMIM:600081
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Macrocephaly, Hydrocephalus, Ventriculomegaly, Microcephaly	OMIM:613603
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Microphthalmia, Optic atrophy, Retinal dysplasia	OMIM:253800
Joubert Syndrome	Encephalocele, Hydrocephalus, Biparietal narrowing	ORPHA:475
Fanconi Renotubular Syndrome 2	High serum calcitriol	OMIM:613388
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Nyctalopia, Constriction of peripheral visual field, Macular atrophy	OMIM:619418
Multiple Sulfatase Deficiency	Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly	OMIM:272200
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia, Iris coloboma	ORPHA:77298
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Increased CSF lactate, Secondary microcephaly, Ventriculomegaly, Primary microcephaly	ORPHA:500144
Khan-Khan-Katsanis Syndrome	Pigmentary retinopathy, Visual impairment	OMIM:618460
Saul-Wilson Syndrome	Nyctalopia, Blue sclerae	OMIM:618150
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Choroid plexus cyst, Ventriculomegaly	OMIM:617866
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Neonatal death, Hydrocephalus, Macrocephaly	OMIM:616482
Hoyeraal-Hreidarsson Syndrome	Failure to thrive, Ventriculomegaly, Microcephaly	ORPHA:3322
47,Xyy Syndrome	Hydrocephalus, Macrocephaly	ORPHA:8
Galloway-Mowat Syndrome 9	Secondary microcephaly, Ventriculomegaly, Microcephaly	OMIM:619603
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos, Abnormal retinal morphology	OMIM:610758
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia, Coloboma	OMIM:617306
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Optic atrophy, Brain atrophy	ORPHA:505248
Brittle Cornea Syndrome 2	Myopia, Blue sclerae	OMIM:614170
Gm2-Gangliosidosis, Ab Variant	Blindness, Neurodegeneration, Cerebral atrophy	OMIM:272750
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Steinfeld Syndrome	Microphthalmia, Retinal coloboma, Iris coloboma	OMIM:184705
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus, Cachexia, Microcephaly	ORPHA:220295
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome	Microcephaly, Ventriculomegaly, Primary microcephaly	ORPHA:404473
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma	OMIM:618914
Hereditary Hypophosphatemic Rickets With Hypercalciuria	High serum calcitriol	ORPHA:157215
Marshall-Smith Syndrome	Myopia, Optic nerve hypoplasia, Cerebral atrophy, High myopia, Melanocytic nevus, Blue sclerae	OMIM:602535
Developmental Malformations-Deafness-Dystonia Syndrome	Blindness	ORPHA:79107
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos, Coloboma	ORPHA:2399
X-Linked Lissencephaly With Abnormal Genitalia	Ventriculomegaly, Microcephaly	ORPHA:452
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Imerslund-Gräsbeck Syndrome	Malabsorption of Vitamin B12, Vitamin B12 deficiency, Abnormal blood 5-methyltetrahydrofolate level	ORPHA:35858
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Griscelli Syndrome	Encephalocele, Hydrocephalus	ORPHA:381
Cockayne Syndrome A	Cerebellar atrophy, Retinal atrophy, Abnormal auditory evoked potentials, Decreased nerve conduct...	OMIM:216400
Kleefstra Syndrome Due To A Point Mutation	Failure to thrive, Large for gestational age, Ventriculomegaly, Microcephaly	ORPHA:261652
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia	ORPHA:3191
Hypophosphatasia, Infantile	Blue sclerae	OMIM:241500
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Neonatal death, Hydrocephalus	OMIM:314390
Mosaic Variegated Aneuploidy Syndrome 1	Small for gestational age, Microcephaly, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly	OMIM:257300
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Abnormality of vitamin D metabolism	ORPHA:541423
Joubert Syndrome With Ocular Defect	Encephalocele, Hydrocephalus, Biparietal narrowing	ORPHA:220493
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Retinal detachment, Myopia, Blue sclerae	OMIM:601776
Genitopalatocardiac Syndrome	Hydrocephalus, Microcephaly	ORPHA:2075
Frontofacionasal Dysplasia	Microphthalmia, Iris coloboma	ORPHA:1791
Megaloblastic Anemia, Folate-Responsive	Vitamin B12 deficiency	OMIM:601775
Wiedemann-Steiner Syndrome	Blue sclerae	OMIM:605130
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Small for gestational age, Microcephaly, Primary microcephaly, Neonatal death, Failure to thrive,...	OMIM:620024
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Ocular albinism	ORPHA:1352
Trisomy 17P	Hydrocephalus, Microcephaly	ORPHA:261290
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Meningocele, Biparietal narrowing, Ventriculomegaly	ORPHA:2031
Ataxia With Vitamin E Deficiency	Cerebellar atrophy, Decreased circulating vitamin E concentration, Abnormality of central somatos...	OMIM:277460
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	ORPHA:1861
Kniest Dysplasia	Retinal detachment, Aplasia/Hypoplasia of the lens, Rhegmatogenous retinal detachment, Lattice re...	ORPHA:485
Mccune-Albright Syndrome	Large cafe-au-lait macules with irregular margins, Blindness	OMIM:174800
Pseudo-Torch Syndrome 2	Lateral ventricle dilatation, Ventriculomegaly, Microcephaly	OMIM:617397
Acquired Aneurysmal Subarachnoid Hemorrhage	Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate	ORPHA:90065
Behçet Disease	Blindness, Retrobulbar optic neuritis, Photophobia, Optic neuritis, Retinopathy	ORPHA:117
Icf Syndrome	Communicating hydrocephalus, Macrocephaly	ORPHA:2268
Stickler Syndrome	Retinal detachment, Blindness, Myopia, Abnormal vitreous humor morphology, Visual impairment	ORPHA:828
Cockayne Syndrome B	Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Optic atrophy, Hypermet...	OMIM:133540
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Ventriculomegaly, Microcephaly	ORPHA:466934
Joubert Syndrome 37	Microphthalmia	OMIM:619185
Mitochondrial Dna-Associated Leigh Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	ORPHA:255210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Hydrocephalus, Ventriculomegaly, Microcephaly	OMIM:613150
Aica-Ribosiduria	Congenital blindness	ORPHA:250977
Cerebral Visual Impairment	Hydrocephalus, Microcephaly	ORPHA:447788
Hydrolethalus	Hydrocephalus, Anencephaly	ORPHA:2189
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Congenital Sialidosis Type 2	Hydrocephalus, Macrocephaly	ORPHA:93400
Brachycephaly, Trichomegaly, And Developmental Delay	Blue sclerae	OMIM:617412
Monosomy 18Q	Microcephaly, Hydrocephalus, Biparietal narrowing, Failure to thrive, Slender build	ORPHA:1600
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2	Blue sclerae	OMIM:619120
Tatton-Brown-Rahman Syndrome	Obesity, Ventriculomegaly, Macrocephaly	ORPHA:404443
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia	OMIM:610756
Dentinogenesis Imperfecta	Blue sclerae	ORPHA:49042
Goldberg-Shprintzen Syndrome	Blue sclerae, Aganglionic megacolon, Hypermetropia	OMIM:609460
Proximal 16P11.2 Microdeletion Syndrome	Failure to thrive, Obesity, Ventriculomegaly, Macrocephaly	ORPHA:261197
Monosomy 18P	Microphthalmia	ORPHA:1598
Dural Sinus Malformation	Myelopathy, Hydrocephalus, Macrocephaly	ORPHA:97339
Czeizel-Losonci Syndrome	Hydrocephalus, Spina bifida occulta, Myelomeningocele, Spina bifida	ORPHA:2437
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia	OMIM:618494
Duane-Radial Ray Syndrome	Aganglionic megacolon, Optic disc hypoplasia, Facial palsy, Retinal coloboma, Microphthalmia, Iri...	OMIM:607323
Congenital Bile Acid Synthesis Defect Type 2	Decreased circulating vitamin E concentration	ORPHA:79303
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Retinal pigment epithelial mottling, Atrophy/Degeneration involving the spinal cord	OMIM:607459
Fuchs Endothelial Corneal Dystrophy	Visual loss, Nyctalopia, Reduced visual acuity	ORPHA:98974
Osteogenesis Imperfecta, Type Ii	Blue sclerae	OMIM:166210
Acro-Renal-Ocular Syndrome	Aganglionic megacolon, Optic disc hypoplasia, Optic disc coloboma, Coloboma, Chorioretinal colobo...	ORPHA:959
Seckel Syndrome 9	Small for gestational age, Ventriculomegaly, Microcephaly	OMIM:616777
Osteogenesis Imperfecta, Type Xiii	Blue sclerae	OMIM:614856
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus	ORPHA:163966
Vitamin D-Dependent Rickets, Type 2A	High serum calcitriol	OMIM:277440
Osteogenesis Imperfecta, Type Iii	Blue sclerae	OMIM:259420
Osteootohepatoenteric Syndrome	Hydrocephalus, Failure to thrive, Weight loss	OMIM:619377
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Stromme Syndrome	Retinal vascular tortuosity, Microphthalmia, Iris coloboma, Optic nerve hypoplasia	OMIM:243605
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Amish Lethal Microcephaly	Spina bifida, Ventriculomegaly, Microcephaly	ORPHA:99742
Igg4-Related Dacryoadenitis And Sialadenitis	Blindness, Optic nerve compression, Abnormal optic nerve morphology	ORPHA:79078
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Hydrocephalus, Microcephaly	ORPHA:1865
Silver-Russell Syndrome	Cafe-au-lait spot, Blue sclerae	ORPHA:813
Microcephaly 30, Primary, Autosomal Recessive	Ventriculomegaly, Primary microcephaly	OMIM:620183
Adams-Oliver Syndrome	Encephalocele, Hydrocephalus, Failure to thrive	ORPHA:974
Marshall Syndrome	Retinal detachment, Vitreoretinopathy, Abnormal vitreous humor morphology	ORPHA:560
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation	OMIM:272460
Intellectual Developmental Disorder, Autosomal Dominant 65	Noncommunicating hydrocephalus	OMIM:619320
Refractory Celiac Disease	Low serum calcitriol	ORPHA:398063
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Hydrocephalus, Macrocephaly	OMIM:616914
Kenny-Caffey Syndrome, Type 2	Retinal calcification, Microphthalmia, Papilledema	OMIM:127000
Rodrigues Blindness	Blindness	OMIM:268320
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Abnormal vitamin B12 level, Decreased adenosylcobalamin	OMIM:251100
X-Linked Cerebral Adrenoleukodystrophy	Blindness, Reduced visual acuity, Global brain atrophy	ORPHA:139396
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Blue sclerae, Hypermetropia, Amblyopia	OMIM:245600
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Decreased methylcobalamin	OMIM:617780
Osteopetrosis, Autosomal Recessive 5	Hydrocephalus, Stillbirth, Ventriculomegaly, Microcephaly	OMIM:259720
Incontinentia Pigmenti	Hypoplasia of the fovea, Retinal detachment, Retinal vascular proliferation, Optic atrophy, Retin...	OMIM:308300
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Blue sclerae	OMIM:619115
Monosomy 9Q22.3	Hydrocephalus, Large for gestational age, Ventriculomegaly, Macrocephaly	ORPHA:77301
Pseudotrisomy 13 Syndrome	Encephalocele, Hydrocephalus, Holoprosencephaly, Microcephaly	OMIM:264480
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Aniridia, Anophthalmia, Abnormal optic nerve morphology, Abnormal vitreous humor morphology	ORPHA:1101
Ehlers-Danlos Syndrome, Periodontal Type, 1	Pretibial hyperpigmentation, Blue sclerae	OMIM:130080
Dietary Iron Overload Disease	Low levels of vitamin C	ORPHA:139507
Pelvis-Shoulder Dysplasia	Bilateral microphthalmos, Retinal coloboma, Iris coloboma	ORPHA:2839
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Dpagt1-Cdg	Nyctalopia, Optic atrophy, Diffuse optic disc pallor, Rod-cone dystrophy, Cerebral cortical atrop...	ORPHA:86309
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Visual loss, Blindness, Iris coloboma, Amblyopia	ORPHA:2250
Distal Triplication 15Q	Hydrocephalus, Dandy-Walker malformation, Large for gestational age	ORPHA:314588
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Coloboma, Microphthalmia	OMIM:206900
Fanconi Anemia, Complementation Group B	Hydrocephalus, Ventriculomegaly	OMIM:300514
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Hydrocephalus, Biparietal narrowing, Macrocephaly	ORPHA:1454
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Cerebellar atrophy, Optic atrophy, Cerebral atrophy, ...	ORPHA:404454
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus	ORPHA:1237
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Myopia, Blue sclerae	OMIM:225410
Chromosome 6Q24-Q25 Deletion Syndrome	Hydrocephalus, Lateral ventricle dilatation	OMIM:612863
Congenital Disorder Of Glycosylation, Type It	Blue sclerae, Abnormal isoelectric focusing of serum transferrin	OMIM:614921
Knobloch Syndrome	Retinal detachment, Macular degeneration, Vitreoretinopathy, Abnormal vitreous humor morphology	ORPHA:1571
Methylmalonic Acidemia With Homocystinuria Type Cblf	Vitamin B12 deficiency, Decreased adenosylcobalamin, Decreased methylcobalamin	ORPHA:79284
Mycophenolate Mofetil Embryopathy	Microphthalmia, Iris coloboma, Chorioretinal coloboma	ORPHA:268249
2Q31.1 Microdeletion Syndrome	Microphthalmia, Optic disc coloboma, Iris coloboma, Coloboma	ORPHA:251014
Alexander Disease	Aqueductal stenosis, Hydrocephalus, Failure to thrive, Macrocephaly	ORPHA:58
Jacobsen Syndrome	Microcephaly, Hydrocephalus, Holoprosencephaly, Macrocephaly, Failure to thrive	OMIM:147791
Hec Syndrome	Communicating hydrocephalus	ORPHA:2119
Primary Ciliary Dyskinesia	Hydrocephalus, Ventriculomegaly	ORPHA:244
Hypophosphatemic Rickets, X-Linked Recessive	High serum calcitriol	OMIM:300554
Oculocerebrorenal Syndrome Of Lowe	Chorioretinal dysplasia, Amblyopia, Abnormal pupil morphology, Generalized hypopigmentation, Low ...	ORPHA:534
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Increased head circumference, Lateral ventricle dilatation	OMIM:612301
Cerebrooculonasal Syndrome	Encephalocele, Hydrocephalus, Macrocephaly, Dandy-Walker malformation, Ventriculomegaly	OMIM:605627
Whipple Disease	Hydrocephalus, Cachexia	ORPHA:3452
1Q21.1 Microdeletion Syndrome	Hydrocephalus, Failure to thrive, Microcephaly	ORPHA:250989
Cardiofaciocutaneous Syndrome 1	Relative macrocephaly, Hydrocephalus, Failure to thrive, Macrocephaly	OMIM:115150
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia	ORPHA:228390
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia, Iris coloboma	ORPHA:251038
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Diamond-Blackfan Anemia 7	Low levels of vitamin D	OMIM:612562
Halperin-Birk Syndrome	Colpocephaly, Failure to thrive, Ventriculomegaly, Semilobar holoprosencephaly	OMIM:618651
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Ventriculomegaly	OMIM:618314
Amoebiasis Due To Free-Living Amoebae	Blindness, Facial palsy, Visual loss, Diplopia, Photophobia	ORPHA:68
Cardiofaciocutaneous Syndrome	Hydrocephalus, Failure to thrive in infancy, Biparietal narrowing, Macrocephaly	ORPHA:1340
Mirage Syndrome	Hydrocephalus, Decreased body weight	OMIM:617053
Short-Rib Thoracic Dysplasia 12	Hydrocephalus, Anencephaly, Holoprosencephaly, Macrocephaly, Neonatal death	OMIM:269860
Spondylocostal Dysostosis 4, Autosomal Recessive	Hydrocephalus, Spina bifida occulta, Myelomeningocele	OMIM:613686
Axenfeld-Rieger Syndrome, Type 2	Blindness	OMIM:601499
Chondrodysplasia Punctata, Autosomal Dominant	Low levels of vitamin K	OMIM:118650
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Macrocephaly, Normal pressure hydrocephalus, Lateral ventricle dilatation, Primary microcephaly	ORPHA:300570
Congenital Myopathy 22A, Classic	Neonatal death, Normal pressure hydrocephalus	OMIM:620351
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip...	OMIM:606721
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Familial Multiple Lipomatosis	Ventriculomegaly, Macrocephaly	ORPHA:199276
Dermatoosteolysis, Kirghizian Type	Nyctalopia	ORPHA:1657
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Meckel Syndrome, Type 5	Microphthalmia	OMIM:611561
Axial Mesodermal Dysplasia Spectrum	Hydrocephalus	ORPHA:1834
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus	OMIM:224400
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Blue sclerae, Iris coloboma	ORPHA:1236
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Failure to thrive, Ventriculomegaly	OMIM:304790
Opsismodysplasia	Blue sclerae	ORPHA:2746
Vacterl With Hydrocephalus	Microphthalmia, Anophthalmia, Abnormal optic nerve morphology	ORPHA:3412
Trisomy 8P	Blue sclerae, Heterochromia iridis, Hypermetropia	ORPHA:264450
Trichothiodystrophy 3, Photosensitive	Microphthalmia	OMIM:616395
Phacoanaphylactic Uveitis	Vitritis, Abnormal vitreous humor morphology, Retinal arteritis, Macular edema, Vitreoretinopathy...	ORPHA:209959
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Optic atrophy	OMIM:201180
Cat Eye Syndrome	Microphthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:115470
Vertebral Hypersegmentation And Orofacial Anomalies	Blue sclerae	OMIM:619122
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Macrocephaly, Hypoglycorrhachia, Microcephaly	ORPHA:168577
Chromosome 17P13.1 Deletion Syndrome	Hydrocephalus, Spina bifida, Microcephaly	OMIM:613776
Dent Disease 1	High serum calcitriol	OMIM:300009
Pycnodysostosis	Blue sclerae	ORPHA:763
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos	ORPHA:369891
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Visual loss, Irregular hyperpigmentation, Low levels of vitamin D	ORPHA:89842
Medulloblastoma	Hydrocephalus, Progressive macrocephaly	ORPHA:616
Osteogenesis Imperfecta, Type Xviii	Blue sclerae	OMIM:617952
Desbuquois Dysplasia 2	Blue sclerae	OMIM:615777
Iniencephaly	Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol...	ORPHA:63259
Adrenomyeloneuropathy	Vitamin B12 deficiency, Atrophy/Degeneration involving the corticospinal tracts, Atrophy of the s...	ORPHA:139399
Combined Oxidative Phosphorylation Deficiency 25	Failure to thrive, Ventriculomegaly	OMIM:616430
Osteogenesis Imperfecta, Type Xi	Blue sclerae	OMIM:610968
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Myopia, Optic nerve hypoplasia, Cerebral visual impairment, Optic atrophy, Hypermetropia, Blue sc...	ORPHA:500150
Fumarase Deficiency	Relative macrocephaly, Microcephaly, Choroid plexus cyst, Failure to thrive, Ventriculomegaly	OMIM:606812
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Microphthalmia, Optic atrophy	OMIM:251300
Proteus Syndrome	Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Myopia...	ORPHA:744
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Tsh-Secreting Pituitary Adenoma	Bitemporal hemianopia, Blindness, Abnormal visual field test, Diplopia, Hemianopia, Sudden loss o...	ORPHA:91347
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia, Coloboma	OMIM:615877
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hydrocephalus	OMIM:619951
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Atypical Werner Syndrome	Abnormality of retinal pigmentation, Diabetes mellitus, Lipoatrophy, Insulin-resistant diabetes m...	ORPHA:79474
Alkaptonuria	Abnormality of skin pigmentation, Irregular hyperpigmentation, Blue sclerae, Abnormality of vision	ORPHA:56
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly	ORPHA:2356
Pearson Syndrome	Malabsorption of Vitamin B12, Pigmentary retinopathy, Cafe-au-lait spot, Hyperpigmentation of the...	ORPHA:699
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus	ORPHA:93259
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Microcephaly, Aqueductal stenosis, Hydrocephalus, Macrocephaly, Failure to thrive	OMIM:619512
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Marden-Walker Syndrome	Microphthalmia	OMIM:248700
Pfeiffer Syndrome	Hydrocephalus	OMIM:101600
Congenital Fibrinogen Deficiency	Microphthalmia	ORPHA:335
Combined Oxidative Phosphorylation Deficiency 55	Blue sclerae	OMIM:619743
Achondroplasia	Hydrocephalus, Macrocephaly	OMIM:100800
Holoprosencephaly 7	Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly...	OMIM:610828
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
Holoprosencephaly	Anophthalmia, Optic atrophy, Chorioretinal coloboma, Microphthalmia, Cyclopia, Retinopathy, Iris ...	ORPHA:2162
Hypocalcemic Vitamin D-Dependent Rickets	Low serum calcitriol	ORPHA:289157
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Molybdenum Cofactor Deficiency, Complementation Group B	Neonatal death, Microcephaly, Ventriculomegaly, Macrocephaly	OMIM:252160
Kabuki Syndrome 2	Blue sclerae	OMIM:300867
Crouzon Syndrome	Hydrocephalus	OMIM:123500
Cutis Laxa, Autosomal Recessive, Type Iiib	Blue sclerae	OMIM:614438
Eiken Syndrome	Low levels of vitamin D	OMIM:600002
Osteogenesis Imperfecta, Type Xvi	Blue sclerae	OMIM:616229
Fetal And Neonatal Alloimmune Thrombocytopenia	Blindness	ORPHA:853
Gillespie Syndrome	Ventriculomegaly	OMIM:206700
Weill-Marchesani Syndrome 2	Iridodonesis, Blindness, High myopia	OMIM:608328
Focal Dermal Hypoplasia	Hypoplasia of the iris, Microphthalmia, Iris coloboma, Chorioretinal coloboma	ORPHA:2092
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Facial palsy, Optic nerve hypoplasia, Coloboma, Abnormal optic disc morphology, Retinal coloboma,...	ORPHA:508498
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Large for gestational age, Ventriculomegaly, Macrocephaly	OMIM:617011
Hurler Syndrome	Hydrocephalus, Macrocephaly	OMIM:607014
Mucopolysaccharidosis, Type Vii	Hydrocephalus, Macrocephaly	OMIM:253220
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Blue sclerae	OMIM:615349
15Q Overgrowth Syndrome	Hydrocephalus, Dandy-Walker malformation, Macrocephaly	ORPHA:314585
Alagille Syndrome 1	Pigmentary retinopathy, Myopia, Chorioretinal atrophy	OMIM:118450
Neonatal Marfan Syndrome	Iridodonesis, Blue sclerae, High myopia	ORPHA:284979
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Hydrocephalus	OMIM:239300
Cole-Carpenter Syndrome	Blue sclerae	ORPHA:2050
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Failure to thrive, Ventriculomegaly, Microcephaly	ORPHA:2462
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Photophobia, Blindness	OMIM:148210
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
Fraser Syndrome 3	Hydrocephalus, Stillbirth	OMIM:617667
17Q11 Microdeletion Syndrome	Blindness, Hypermelanotic macule, Retinal vascular proliferation, Abnormal choroid morphology, Pr...	ORPHA:97685
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Occipital meningocele, Hydrocephalus, Anencephaly, Ventriculomegaly	OMIM:616546
Osteogenesis Imperfecta, Type Xx	Blue sclerae	OMIM:618644
Neu-Laxova Syndrome 2	Spina bifida, Ventriculomegaly, Microcephaly	OMIM:616038
Apert Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:87
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
Autosomal Recessive Hypophosphatemic Rickets	Low serum calcitriol, Abnormality of vitamin D metabolism	ORPHA:289176
Premature Aging Syndrome, Penttinen Type	Microphthalmia, Hypermyelinated retinal nerve fibers	OMIM:601812
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Frontorhiny	Microphthalmia, Iris coloboma	ORPHA:391474
Leprosy	Blindness, Abnormality of the seventh cranial nerve, Abnormal autonomic nervous system physiology...	ORPHA:548
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Optic disc pallor, Cerebral visual impairment, Hypermetropia, Abnormality of vision, Low levels o...	ORPHA:438213
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
Kabuki Syndrome	Microcephaly, Hydrocephalus, Obesity, Failure to thrive, Ventriculomegaly	ORPHA:2322
7Q11.23 Microduplication Syndrome	Hydrocephalus, Obesity, Ventriculomegaly, Macrocephaly	ORPHA:96121
Endocrine-Cerebroosteodysplasia	Hydrocephalus, Holoprosencephaly, Ventriculomegaly	OMIM:612651
Encephalocraniocutaneous Lipomatosis	Hydrocephalus, Dandy-Walker malformation	OMIM:613001
Meckel Syndrome, Type 2	Microphthalmia	OMIM:603194
Raine Syndrome	Neonatal death, Hydrocephalus, Microcephaly	OMIM:259775
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus	ORPHA:2720
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities	Cerebellar atrophy, Vitamin B12 deficiency, Cerebral visual impairment, Cerebral atrophy, Hippoca...	OMIM:618922
Retinoblastoma	Retinal calcification, Vitreous hemorrhage, Vitritis, Retinoblastoma	OMIM:180200
Functioning Gonadotropic Adenoma	Hydrocephalus	ORPHA:91348
Cousin Syndrome	Hydranencephaly, Hydrocephalus, Macrocephaly	OMIM:260660
3-Methylglutaconic Aciduria, Type Viii	Increased CSF lactate, Secondary microcephaly, Neonatal death, Failure to thrive, Ventriculomegaly	OMIM:617248
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Decreased adenosylcobalamin, Decreased methylcobalamin	OMIM:277380
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Hydrocephalus	OMIM:618590
Holoprosencephaly 3	Holoprosencephaly, Ventriculomegaly, Microcephaly	OMIM:142945
Otopalatodigital Syndrome Type 2	Encephalocele, Hydrocephalus, Failure to thrive, Myelomeningocele	ORPHA:90652
Acrodysostosis 1 With Or Without Hormone Resistance	Hydrocephalus, Small for gestational age	OMIM:101800
Mucopolysaccharidosis Type 1	Hydrocephalus, Macrocephaly	ORPHA:579
Aicardi Syndrome	Retinal detachment, Chorioretinal lacunae, Optic disc coloboma, Optic atrophy, Microphthalmia	OMIM:304050
Mucoepithelial Dysplasia, Hereditary	Photophobia, Blindness	OMIM:158310
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	OMIM:616449
8P Inverted Duplication/Deletion Syndrome	Blue sclerae	ORPHA:96092
Dubowitz Syndrome	Hypoplasia of the iris, Microphthalmia, Rod-cone dystrophy, Iris coloboma	OMIM:223370
Pentalogy Of Cantrell	Encephalocele, Hydrocephalus, Anencephaly	ORPHA:1335
Lateral Meningocele Syndrome	Hydrocephalus, Meningocele	OMIM:130720
Knobloch Syndrome 2	Retinal detachment, Vitreoretinopathy, Vitreous floaters	OMIM:618458
Phace Syndrome	Optic nerve hypoplasia, Lens coloboma, Retinal vascular malformation, Microphthalmia, Iris coloboma	ORPHA:42775
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Visual loss, Low levels of vitamin D, Abnormality of vitamin metabolism	ORPHA:79408
Opitz-Kaveggia Syndrome	Relative macrocephaly, Hydrocephalus, Postnatal macrocephaly	OMIM:305450
Cockayne Syndrome Type 3	Optic disc pallor, Retinal atrophy, Retinal dystrophy, Retinal hemorrhage, Microphthalmia, Retina...	ORPHA:90324
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Decreased adenosylcobalamin	OMIM:251110
Wiedemann-Rautenstrauch Syndrome	Myopia, Optic disc hypoplasia, Optic atrophy, Hypermetropia, Pigmentary retinopathy, Blue sclerae	ORPHA:3455
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia	OMIM:241410
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hydrocephalus, Holoprosencephaly, Microcephaly	ORPHA:2166
Beare-Stevenson Cutis Gyrata Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:123790
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hydrocephalus	ORPHA:1555
Sacral Defect With Anterior Meningocele	Myeloschisis, Hydrocephalus, Meningocele, Myelomeningocele, Dermal sinus tract	OMIM:600145
Webb-Dattani Syndrome	Blindness	OMIM:615926
Proboscis Lateralis	Anophthalmia, Optic nerve hypoplasia, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia...	ORPHA:141099
Osteopathia Striata With Cranial Sclerosis	Hydrocephalus, Failure to thrive, Spina bifida occulta, Macrocephaly	OMIM:300373
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Blue sclerae	OMIM:615560
Isotretinoin-Like Syndrome	Hydrocephalus, Microcephaly	ORPHA:2306
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Decreased circulating vitamin E concentration, Abnormality of amino acid metabolism	ORPHA:309854
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Blue sclerae, Brain atrophy	OMIM:616539
Intellectual Disability-Alacrima-Achalasia Syndrome	Ventriculomegaly	ORPHA:289483
Weill-Marchesani Syndrome 1	Blindness, High myopia	OMIM:277600
Osteogenesis Imperfecta, Type X	Blue sclerae	OMIM:613848
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Martsolf Syndrome 1	Microphthalmia	OMIM:212720
Microphthalmia, Syndromic 6	Myopia, Blindness, Retinal dystrophy, Cerebral cortical atrophy	OMIM:607932
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hydrocephalus	OMIM:207410
Loeys-Dietz Syndrome 5	Blue sclerae	OMIM:615582
Shprintzen-Goldberg Craniosynostosis Syndrome	Hydrocephalus, Microcephaly	OMIM:182212
Spondyloepiphyseal Dysplasia Congenita	Retinal detachment, Vitreoretinopathy	OMIM:183900
Mucopolysaccharidosis, Type Iiid	Cerebellar atrophy, Nyctalopia, Visual impairment	OMIM:252940
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Fanconi Anemia, Complementation Group D2	Hydrocephalus, Small for gestational age, Microcephaly	OMIM:227646
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hydrocephalus, Ventriculomegaly	ORPHA:228308
Meckel Syndrome	Anophthalmia, Abnormal chorioretinal morphology, Optic atrophy, Aplasia/Hypoplasia of the iris, M...	ORPHA:564
Histiocytoid Cardiomyopathy	Microphthalmia, Optic atrophy, Congenital aphakia	ORPHA:137675
Transcobalamin Ii Deficiency	Abnormal blood folate concentration	OMIM:275350
Chromosome 13Q33-Q34 Deletion Syndrome	Microphthalmia	OMIM:619148
Fryns Syndrome	Microphthalmia, Aganglionic megacolon	ORPHA:2059
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Large for gestational age, Macrocephaly, Slender build, Ventriculome...	ORPHA:457359
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Spina bifida, Macrocephaly	OMIM:162200
Linear Nevus Sebaceus Syndrome	Ventriculomegaly, Biparietal narrowing, Dandy-Walker malformation	ORPHA:2612
Basal Cell Nevus Syndrome 1	Hydrocephalus, Spina bifida, Macrocephaly	OMIM:109400
Coccidioidomycosis	Broad skull, Hydrocephalus, CSF pleocytosis, CSF lymphocytic pleiocytosis, Hypoglycorrhachia, Inc...	ORPHA:228123
Knobloch Syndrome 1	Retinal detachment, Optic disc pallor, Phthisis bulbi, Chorioretinal atrophy, Vitreoretinopathy, ...	OMIM:267750
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Iris coloboma, Retinoblastoma, Chorioretinal coloboma	OMIM:613884
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia, Optic atrophy, Coloboma	OMIM:616975
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hydrocephalus	OMIM:616007
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly	OMIM:313850
Koolen-De Vries Syndrome Due To A Point Mutation	Small for gestational age, Spina bifida, Microcephaly, Hydrocephalus, Macrocephaly, Slender build...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Small for gestational age, Spina bifida, Microcephaly, Hydrocephalus, Macrocephaly, Slender build...	ORPHA:363958
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia	ORPHA:2728
Senior-Loken Syndrome 3	Visual loss, Congenital blindness	OMIM:606995
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Myopia, Blue sclerae	OMIM:614557
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Iris coloboma, Unilateral microphthalmos	OMIM:618874
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Cogan Syndrome	Photophobia, Blindness, Reduced visual acuity	ORPHA:1467
Laurin-Sandrow Syndrome	Hydrocephalus	ORPHA:2378
Mucopolysaccharidosis, Type Vi	Cervical myelopathy, Hydrocephalus, Macrocephaly	OMIM:253200
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Robinow Syndrome, Autosomal Dominant 3	Blue sclerae	OMIM:616894
Marden-Walker Syndrome	Hydrocephalus, Failure to thrive, Microcephaly	ORPHA:2461
Dextrocardia	Hydrocephalus	ORPHA:1666
Monosomy 13Q14	Microphthalmia, Iris coloboma, Retinoblastoma	ORPHA:1587
Congenital Erythropoietic Porphyria	Blindness, Low levels of vitamin D, Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:79277
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus	OMIM:104350
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Broad skull, Hydrocephalus, Microcephaly	ORPHA:163979
Trichothiodystrophy 1, Photosensitive	Microphthalmia	OMIM:601675
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus	OMIM:244400
Dubowitz Syndrome	Hydrocephalus, Spina bifida occulta, Microcephaly	ORPHA:235
Curry-Jones Syndrome	Microphthalmia, Iris coloboma	OMIM:601707
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Failure to thrive, Microcephaly, Overweight, Hydrocephalus, Obesity, Macrocephaly, Decreased body...	OMIM:619475
Frontonasal Dysplasia 2	Microphthalmia	OMIM:613451
Mohr Syndrome	Hydrocephalus	OMIM:252100
Osteogenesis Imperfecta, Type Iv	Blue sclerae	OMIM:166220
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia	OMIM:302960
Apert Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:101200
Gaucher Disease, Type Iiic	Hydrocephalus	OMIM:231005
Carnitine Palmitoyltransferase Ii Deficiency	Hydrocephalus	ORPHA:157
Meckel Syndrome, Type 1	Dilated fourth ventricle, Occipital encephalocele, Microcephaly, Hydrocephalus, Anencephaly, Dand...	OMIM:249000
Distal 22Q11.2 Microduplication Syndrome	Hydrocephalus, Macrocephaly, Biparietal narrowing, Microcephaly	ORPHA:261337
Mend Syndrome	Hydrocephalus, Failure to thrive, Dandy-Walker malformation	ORPHA:401973
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Ventriculomegaly	OMIM:618188
Mend Syndrome	Hydrocephalus, Failure to thrive, Dandy-Walker malformation	OMIM:300960
Mosaic Trisomy 1	Microphthalmia	ORPHA:1692
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Blue sclerae	OMIM:616728
Microphthalmia, Syndromic 1	Blindness, Aganglionic megacolon, Optic disc coloboma, Ciliary body coloboma, Chorioretinal colob...	OMIM:309800
Mosaic Trisomy 9	Microphthalmia	ORPHA:99776
Hajdu-Cheney Syndrome	Hydrocephalus, Failure to thrive, Macrocephaly	ORPHA:955
Craniopharyngioma	Hydrocephalus, Obesity	ORPHA:54595
Microphthalmia With Limb Anomalies	Microphthalmia, Optic atrophy, True anophthalmia	ORPHA:1106
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
Osteogenesis Imperfecta, Type I	Blue sclerae	OMIM:166200
Autosomal Recessive Robinow Syndrome	Blue sclerae	ORPHA:1507
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Autosomal Dominant Kenny-Caffey Syndrome	Retinal calcification, Papilledema, Bilateral microphthalmos	ORPHA:93325
Campomelic Dysplasia	Relative macrocephaly, Spina bifida, Hydrocephalus, Spinal dysraphism, Macrocephaly, Failure to t...	OMIM:114290
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610829
Spondyloepimetaphyseal Dysplasia, Krakow Type	Hydrocephalus	OMIM:618162
3Q29 Microdeletion Syndrome	Microphthalmia	ORPHA:65286
Trichothiodystrophy	Macular degeneration, Bilateral microphthalmos, Retinal degeneration	ORPHA:33364
H Syndrome	Hydrocephalus	ORPHA:168569
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	ORPHA:464738
Kyphoscoliotic Ehlers-Danlos Syndrome	Myopia, Blue sclerae	ORPHA:536545
Aymé-Gripp Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:1272
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Myopia, Blue sclerae	OMIM:271640
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Blue sclerae, Hypermetropia	OMIM:130070
Hurler Syndrome	Hydrocephalus	ORPHA:93473
Dent Disease	High serum calcitriol	ORPHA:1652
Hardikar Syndrome	Pigmentary retinopathy	OMIM:301068
Semilobar Holoprosencephaly	Microcephaly, Hydrocephalus, Neural tube defect, Macrocephaly, Failure to thrive	ORPHA:220386
Alobar Holoprosencephaly	Microcephaly, Hydrocephalus, Neural tube defect, Macrocephaly, Failure to thrive	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Microcephaly, Hydrocephalus, Neural tube defect, Macrocephaly, Failure to thrive	ORPHA:93926
Lobar Holoprosencephaly	Microcephaly, Hydrocephalus, Neural tube defect, Macrocephaly, Failure to thrive	ORPHA:93924
Fanconi Anemia	Spina bifida, Microcephaly, Hydrocephalus, Weight loss, Ventriculomegaly	ORPHA:84
Galloway-Mowat Syndrome 3	Microphthalmia	OMIM:617729
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:457284
Corneodermatoosseous Syndrome	Photophobia, Nyctalopia, Hemeralopia	ORPHA:3194
Multiple Myeloma	Abnormality of vitamin B12 metabolism	ORPHA:29073
Charge Syndrome	Anophthalmia, Facial palsy, Optic atrophy, Chorioretinal coloboma, Microphthalmia, Iris coloboma,...	ORPHA:138
Neurooculorenal Syndrome	Aqueductal stenosis, Hydrocephalus, Ventriculomegaly	OMIM:620305
Viss Syndrome	Retinal detachment, Blue sclerae, High myopia	OMIM:619472
Hypoplasminogenemia	Hydrocephalus, Dandy-Walker malformation	ORPHA:722
Orofaciodigital Syndrome I	Hydrocephalus, Myelomeningocele, Microcephaly	OMIM:311200
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Osteogenesis Imperfecta	Relative macrocephaly, Small for gestational age, Hydrocephalus, Noncommunicating hydrocephalus, ...	ORPHA:666
Acrofacial Dysostosis 1, Nager Type	Aqueductal stenosis, Hydrocephalus, Microcephaly	OMIM:154400
22Q11.2 Deletion Syndrome	Spina bifida, Microcephaly, Hydrocephalus, Meningocele, Obesity, Occipital myelomeningocele, Fail...	ORPHA:567
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Iris coloboma, Optic disc coloboma, Facial palsy	OMIM:620186
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Hepatoerythropoietic Porphyria	Blindness, Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:95159
Costello Syndrome	Hydrocephalus, Failure to thrive, Ventriculomegaly, Macrocephaly	OMIM:218040
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic disc pallor, Bilateral microphthalmos, Optic nerve hypoplasia, Attenuation of retinal blood...	ORPHA:468631
Meckel Syndrome 14	Microphthalmia	OMIM:619879
Fanconi Anemia, Complementation Group F	Microphthalmia	OMIM:603467
Hajdu-Cheney Syndrome	Hydrocephalus, Failure to thrive	OMIM:102500
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia, Cyclopia, Iris coloboma	ORPHA:3186
Smith-Lemli-Opitz Syndrome	Microcephaly, Hydrocephalus, Colpocephaly, Holoprosencephaly, Failure to thrive, Dandy-Walker mal...	OMIM:270400
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Microcephaly, Hydrocephalus, Colpocephaly, Lateral ventricle dilatation, Stillbirth, Failure to t...	OMIM:210710
Thakker-Donnai Syndrome	Communicating hydrocephalus	ORPHA:1780
Fontaine Progeroid Syndrome	Small for gestational age, Microcephaly, Hydrocephalus, Neonatal death, Failure to thrive	OMIM:612289
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia	OMIM:300952
Frontometaphyseal Dysplasia 2	Blue sclerae	OMIM:617137
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus	OMIM:616084
Heterotaxy, Visceral, 1, X-Linked	Aqueductal stenosis, Hydrocephalus, Failure to thrive, Myelomeningocele	OMIM:306955
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hydrocephalus, Stillbirth	ORPHA:95699
Fetal Akinesia Deformation Sequence 1	Hydrocephalus, Stillbirth, Small for gestational age	OMIM:208150
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
Autosomal Dominant Robinow Syndrome	Blue sclerae	ORPHA:3107
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Few cafe-au-lait spots, Blue sclerae, Hypermetropia, Congenital Horner syndrome	OMIM:619503
Juvenile Nephropathic Cystinosis	Photophobia, Low levels of vitamin D	ORPHA:411634
Lenz-Majewski Hyperostotic Dwarfism	Hydrocephalus, Macrocephaly	ORPHA:2658
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia	ORPHA:364577
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia	OMIM:616300
Renpenning Syndrome 1	Cerebral atrophy, Blindness, Hypermetropia	OMIM:309500
Wolf-Hirschhorn Syndrome	Small for gestational age, Microcephaly, Hydrocephalus, Failure to thrive, Ventriculomegaly	OMIM:194190
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Cachexia, Hydrocephalus, Ventriculomegaly	ORPHA:2072
Pallister-Hall Syndrome	Microphthalmia	OMIM:146510
Pseudoaminopterin Syndrome	Hydrocephalus, Macrocephaly	ORPHA:221120
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Low levels of vitamin D	ORPHA:79259
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus	ORPHA:91350
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus	ORPHA:137667
Treacher-Collins Syndrome	Microphthalmia, Iris coloboma	ORPHA:861
Fanconi Anemia, Complementation Group L	Hydrocephalus	OMIM:614083
Autosomal Recessive Malignant Osteopetrosis	Hydrocephalus, Macrocephaly	ORPHA:667
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Macrocephaly	ORPHA:309282
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Coloboma	OMIM:603457
Sarcoidosis	Blindness, Hypopigmentation of the skin, Facial palsy, Hyperpigmentation of the skin	ORPHA:797
Lymphedema-Distichiasis Syndrome	Microphthalmia	OMIM:153400
Roberts Syndrome	Blue sclerae	ORPHA:3103
Focal Dermal Hypoplasia	Anophthalmia, Optic atrophy, Chorioretinal coloboma, Aniridia, Microphthalmia, Iris coloboma	OMIM:305600
Fanconi Anemia, Complementation Group C	Microphthalmia	OMIM:227645
Limb Body Wall Complex	Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta	ORPHA:2369
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Blue sclerae	ORPHA:477993
Rajab Interstitial Lung Disease With Brain Calcifications 1	Low levels of vitamin D, Cerebral atrophy	OMIM:613658
Glycogen Storage Disease Of Heart, Lethal Congenital	Hydrocephalus	OMIM:261740
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Blindness, Visual loss, Photophobia, Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:95455
Wiedemann-Rautenstrauch Syndrome	Small for gestational age, Hydrocephalus, Macrocephaly, Failure to thrive, Dandy-Walker malformation	OMIM:264090
Fryns Syndrome	Microphthalmia, Aganglionic megacolon	OMIM:229850
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Rothmund-Thomson Syndrome, Type 2	Microphthalmia	OMIM:268400
Microphthalmia, Syndromic 9	Anophthalmia, Bilateral microphthalmos	OMIM:601186
Fraser Syndrome 1	Encephalocele, Hydrocephalus, Myelomeningocele, Microcephaly	OMIM:219000
Frontofacionasal Dysplasia	Microphthalmia, Iris coloboma	OMIM:229400
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia	ORPHA:1052
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Anophthalmia	ORPHA:2538
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Bartsocas-Papas Syndrome 1	Microphthalmia	OMIM:263650
Hallermann-Streiff Syndrome	Microphthalmia	ORPHA:2108
Charge Syndrome	Anophthalmia, Facial palsy, Unilateral microphthalmos, Coloboma, Retinal coloboma, Microphthalmia...	OMIM:214800
Yunis-Varon Syndrome	Severe failure to thrive, Hydrocephalus, Primary microcephaly	ORPHA:3472
Gaucher Disease	Hydrocephalus, Ventriculomegaly	ORPHA:355
Fibromuscular Dysplasia, Multifocal	Blue sclerae	OMIM:619329
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia	OMIM:620005
Lymphangioleiomyomatosis	Hydrocephalus	ORPHA:538
Fraser Syndrome 2	Microphthalmia	OMIM:617666
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia	OMIM:609945
Autosomal Dominant Cutis Laxa	Low levels of vitamin D	ORPHA:90348
Wrinkly Skin Syndrome	Blue sclerae, Abnormal isoelectric focusing of serum transferrin	OMIM:278250
Acute Transverse Myelitis	Orthostatic hypotension, Vitamin B12 deficiency, Abnormal autonomic nervous system physiology, Au...	ORPHA:139417
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Mild fetal ventriculomegaly, Macrocephaly, Microcephaly	OMIM:619841
Alström Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Blindness, Retinal pigment epithelial atrophy, Retina...	ORPHA:64
Carpenter Syndrome 2	Blue sclerae	OMIM:614976
Peters-Plus Syndrome	Microcephaly, Hydrocephalus, Macrocephaly, Decreased body weight, Ventriculomegaly	OMIM:261540
Coffin-Siris Syndrome 12	Macrocephaly, Failure to thrive, Noncommunicating hydrocephalus, Microcephaly	OMIM:619325
Monosomy 9P	Microphthalmia	ORPHA:261112
Chromosome 1P36 Deletion Syndrome, Distal	Hydrocephalus, Obesity, Lateral ventricle dilatation, Microcephaly	OMIM:607872
Tetrasomy 9P	Hydrocephalus, Dandy-Walker malformation, Macrocephaly	ORPHA:3310
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia	OMIM:601552
Autoimmune Lymphoproliferative Syndrome	Abnormal vitamin B12 level	ORPHA:3261
Cardiospondylocarpofacial Syndrome	Blue sclerae	OMIM:157800
Branchiooculofacial Syndrome	Anophthalmia, Facial palsy, Retinal coloboma, Microphthalmia, Iris coloboma	OMIM:113620
Liver Disease, Severe Congenital	Low levels of vitamin D, Decreased circulating vitamin E concentration	OMIM:619991
Menke-Hennekam Syndrome 1	Blindness, Hypermetropia	OMIM:618332
Loeys-Dietz Syndrome 1	Blue sclerae	OMIM:609192
Myhre Syndrome	Microphthalmia	OMIM:139210
Kabuki Syndrome 1	Cafe-au-lait spot, Blue sclerae	OMIM:147920
Peters Plus Syndrome	Hydrocephalus, Spina bifida occulta, Ventriculomegaly, Microcephaly	ORPHA:709
Split Cord Malformation	Cervical spina bifida, Hydrocephalus, Lipomyelomeningocele, Myelomeningocele, Meningocele	ORPHA:573278
Townes-Brocks Syndrome 1	Hydrocephalus, Small for gestational age, Holoprosencephaly, Microcephaly	OMIM:107480
Mowat-Wilson Syndrome	Microphthalmia, Aganglionic megacolon, Iris coloboma, Chorioretinal coloboma	OMIM:235730
Degcags Syndrome	Microphthalmia	OMIM:619488
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Hydrocephalus, Macrocephaly	ORPHA:363700
Fraser Syndrome	Blindness	ORPHA:2052
Tetraamelia Syndrome 1	Hydrocephalus	OMIM:273395
Oeis Complex	Hydrocephalus, Myelomeningocele	OMIM:258040
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia	OMIM:616734
Loeys-Dietz Syndrome 2	Blue sclerae	OMIM:610168
Holoprosencephaly 1	Microphthalmia, Cyclopia	OMIM:236100
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aqueductal stenosis, Hydrocephalus, Lateral ventricle dilatation, Neonatal death, Failure to thrive	OMIM:619534
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida, Microcephaly	ORPHA:322
Osteogenesis Imperfecta, Type Vii	Blue sclerae	OMIM:610682
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia	OMIM:608670
Hydrolethalus Syndrome 1	Stillbirth, Dandy-Walker malformation, Anencephaly, Severe hydrocephalus	OMIM:236680
8Q24.3 Microdeletion Syndrome	Bilateral microphthalmos, Retinal coloboma, Optic nerve hypoplasia	ORPHA:508488
Vascular Ehlers-Danlos Syndrome	Abnormality of skin pigmentation, Abnormal pupil morphology, Blue sclerae, Melanocytic nevus	ORPHA:286
Baller-Gerold Syndrome	Hydrocephalus, Spina bifida occulta	OMIM:218600
Townes-Brocks Syndrome	Microphthalmia, Iris coloboma, Chorioretinal coloboma	ORPHA:857
Loeys-Dietz Syndrome	Blue sclerae	ORPHA:60030
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia	OMIM:612474
Otopalatodigital Syndrome, Type Ii	Hydrocephalus, Stillbirth, Spina bifida	OMIM:304120
Tuberous Sclerosis Complex	Noncommunicating hydrocephalus, Subependymal nodules	ORPHA:805
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hydrocephalus	ORPHA:3042
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia	ORPHA:306542
Witteveen-Kolk Syndrome	Microphthalmia, Iris coloboma	OMIM:613406
Roberts-Sc Phocomelia Syndrome	Frontal encephalocele, Hydrocephalus, Stillbirth, Microcephaly	OMIM:268300
Adams-Oliver Syndrome 1	Microphthalmia	OMIM:100300
Simpson-Golabi-Behmel Syndrome, Type 1	Hydrocephalus, Macrocephaly	OMIM:312870
Neu-Laxova Syndrome 1	Microphthalmia	OMIM:256520
Lowe Oculocerebrorenal Syndrome	Microphthalmia	OMIM:309000
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia, Aganglionic megacolon, Iris coloboma, Retinal coloboma	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aganglionic megacolon, Optic atrophy, Retinal coloboma, Microphthalmia, Iris coloboma	ORPHA:261552
Mowat-Wilson Syndrome	Microphthalmia, Aganglionic megacolon, Iris coloboma, Retinal coloboma	ORPHA:2152
Pallister-Hall Syndrome	Microphthalmia	ORPHA:672
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Craniofacial Microsomia 1	Occipital encephalocele, Hydrocephalus	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 Stra6

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 Stra6.

There are 3 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Mice Lacking the Systemic Vitamin A Receptor RBPR2 Show Decreased Ocular Retinoids and Loss of Visual Function.	Nutrients (June 2022)	Stra6^{tm1a(EUCOMM)Wtsi}	PMC9231411
Mechanisms of Feedback Regulation of Vitamin A Metabolism.	Nutrients (March 2022)	Stra6l^{tm1a(KOMP)Wtsi}	PMC8950952
Liver retinol transporter and receptor for serum retinol-binding protein (RBP4).	The Journal of biological chemistry (October 2012)	Stra6l^{tm1a(KOMP)Wtsi} Stra6l^{tm1b(KOMP)Wtsi}	PMC3543007

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
Stra6^{tm42954(L1L2_gt2)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Stra6^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Stra6^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Stra6^{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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