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Gene: Cacna1f MGI:1859639

Gene Summary

Name:

calcium channel, voltage-dependent, alpha 1F subunit

Synonyms:

Cav1.4, Sfc17

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
enlarged heart	Cacna1f^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
increased circulating creatinine level	Cacna1f^{tm1.1(KOMP)Vlcg}	HEM	Early adult	6.24×10^-05
absent optic nerve	Cacna1f^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
abnormal eye morphology	Cacna1f^{tm1.1(KOMP)Vlcg}	HEM	Early adult	0.00
increased circulating insulin level	Cacna1f^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.99×10^-12
abnormal heart morphology	Cacna1f^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
abnormal eye morphology	Cacna1f^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
hyperactivity	Cacna1f^{tm1.1(KOMP)Vlcg}	HOM	Early adult	2.54×10^-06

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Histopathology

Images

4 Images

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Human diseases caused by Cacna1f 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 Cacna1f (6 diseases)
Human diseases predicted to be associated with Cacna1f (1025 diseases)

The table below shows human diseases associated to Cacna1f by orthology or direct annotation.

Disease	Matching phenotypes	Source
Cone Rod Dystrophy	Color vision defect, Photophobia, Abnormality of retinal pigmentation, Visual impairment, Nyctalopia	ORPHA:1872
Congenital Stationary Night Blindness	Retinal thinning, Color vision defect, Hypermetropia, Congenital stationary night blindness with ...	ORPHA:215
Cone-Rod Dystrophy, X-Linked, 3	Color vision defect, Photophobia, Central scotoma, Retinal detachment, Abnormality of macular pig...	OMIM:300476
Åland Islands Eye Disease	Color vision defect, Hypoplasia of the fovea, Reduced visual acuity, Difficulty adjusting from li...	ORPHA:178333
Aland Island Eye Disease	Protanopia, Hypoplasia of the fovea, Myopia, Hypopigmentation of the fundus, Severely reduced vis...	OMIM:300600
Night Blindness, Congenital Stationary, Type 2A	Congenital stationary night blindness, Reduced visual acuity, Visual impairment	OMIM:300071

The table below shows human diseases predicted to be associated to Cacna1f by phenotypic similarity.

Disease	Matching phenotypes	Source
Retinitis Pigmentosa 42	Cystoid macular edema, Peripapillary atrophy, Reduced visual acuity, Perifoveal ring of hyperauto...	OMIM:612943
Cone-Rod Dystrophy 9	Cone/cone-rod dystrophy, Visual impairment	OMIM:612775
Central Areolar Choroidal Dystrophy	Visual loss, Drusen, Full-thickness macular hole, Dyschromatopsia, Absent retinal pigment epithel...	ORPHA:75377
Sorsby Pseudoinflammatory Fundus Dystrophy	Large central visual field defect, Macular dystrophy, Abnormal fundus autofluorescence imaging, V...	ORPHA:59181
Stargardt Disease 3	Macular dystrophy, Macular flecks, Reduced visual acuity, Macular atrophy, Visual impairment	OMIM:600110
Macular Dystrophy, Patterned, 2	Pattern dystrophy of the retina, Foveal hyperpigmentation, Drusen, Reduced visual acuity	OMIM:608970
Macular Dystrophy, Patterned, 3	Macular atrophy, Rod-cone dystrophy, Reduced visual acuity, Choroidal neovascularization	OMIM:617111
Macular Dystrophy, Vitelliform, 2	Cystoid macular degeneration, Macular dystrophy, Reduced visual acuity, Subretinal fluid, Visual ...	OMIM:153700
Macular Dystrophy, Retinal, 1, North Carolina Type	Macular dystrophy, Drusen, Dyschromatopsia, Central scotoma, Abnormality of macular pigmentation,...	OMIM:136550
Macular Dystrophy, Retinal, 2	Granular macular appearance, Macular dystrophy, Dyschromatopsia, Central scotoma, Reduced visual ...	OMIM:608051
Retinitis Pigmentosa 29	Attenuation of retinal blood vessels, Rod-cone dystrophy, Blindness	OMIM:612165
Macular Dystrophy, Vitelliform, 5	Macular dystrophy, Central scotoma, Reduced visual acuity, Vitelliform-like macular lesions, Mode...	OMIM:616152
Retinitis Pigmentosa 27	Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Peripapillary c...	OMIM:613750
Leber Congenital Amaurosis 12	Abnormality of macular pigmentation, Congenital blindness	OMIM:610612
Sorsby Fundus Dystrophy	Macular dystrophy, Chorioretinal atrophy, Blindness	OMIM:136900
Optic Atrophy 9	Optic atrophy, Red-green dyschromatopsia, Optic disc pallor, Paracentral scotoma, Reduced visual ...	OMIM:616289
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Pigmentary retinopat...	OMIM:180210
Bietti Crystalline Dystrophy	Large central visual field defect, Constriction of peripheral visual field, Color vision defect, ...	ORPHA:41751
Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome	Rod-cone dystrophy, Severely reduced visual acuity	ORPHA:3011
Retinitis Pigmentosa 11	Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Macular degener...	OMIM:600138
Retinal Dysplasia, Primary	Falciform retinal fold, Retinal dysplasia	OMIM:312550
Macular Dystrophy, Vitelliform, 4	Macular dystrophy, Drusen, Vitelliform-like macular lesions, Moderately reduced visual acuity	OMIM:616151
Late-Onset Retinal Degeneration	Sub-RPE deposits, Adult-onset night blindness, Visual loss, Choroidal neovascularization, Scotoma...	OMIM:605670
Persistent Placoid Maculopathy	Choroidal neovascularization, Retinal pigment epithelial mottling, Reduced visual acuity, Hypopla...	ORPHA:97341
Retinitis Pigmentosa 30	Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret...	OMIM:607921
Leber Congenital Amaurosis 13	Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,...	OMIM:612712
Choroideremia	Constriction of peripheral visual field, Granular macular appearance, Bone spicule pigmentation o...	OMIM:303100
Retinitis Pigmentosa 47	Chorioretinal atrophy, Visual impairment, Rod-cone dystrophy, Pigmentary retinopathy, Nyctalopia	OMIM:613758
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Macular degeneration, Subretinal deposits, Choriocapillaris atrophy, Reduced visual acuity, Blind...	OMIM:601553
Macular Degeneration, Early-Onset	Macular degeneration, Reduced visual acuity, Choroidal neovascularization	OMIM:616118
Newfoundland Rod-Cone Dystrophy	Color vision defect, Bone spicule pigmentation of the retina, Scotoma, Retinal dystrophy, Central...	OMIM:607476
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Progressive visual loss, Attenuation of retinal blood ve...	OMIM:617781
Retinitis Pigmentosa 73	Constriction of peripheral visual field, Color vision defect, Bone spicule pigmentation of the re...	OMIM:616544
Macular Dystrophy, Patterned, 1	Dark choroid, Macular dystrophy, Pattern dystrophy of the retina, Choroidal neovascularization, P...	OMIM:169150
Senior-Loken Syndrome 6	Rod-cone dystrophy, Reduced visual acuity, Visual impairment	OMIM:610189
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Visual field de...	OMIM:613731
Night Blindness, Congenital Stationary, Autosomal Dominant 2	Congenital stationary night blindness, Reduced visual acuity, Abnormal fundus morphology, Moderat...	OMIM:163500
Cone-Rod Dystrophy 24	Color vision defect, Scotoma, Photophobia, Macular degeneration, Pericentral scotoma, Cone/cone-r...	OMIM:620342
Retinitis Pigmentosa 62	Bone spicule pigmentation of the retina, Bull's eye maculopathy, Visual field defect, Attenuation...	OMIM:614181
Cone-Rod Dystrophy 7	Color vision defect, Bull's eye maculopathy, Cone/cone-rod dystrophy, Retinal flecks, Macular atr...	OMIM:603649
Retinitis Pigmentosa 33	Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,...	OMIM:610359
Stargardt Disease 4	Macular degeneration, Retinal flecks, Reduced visual acuity	OMIM:603786
Optic Atrophy 13 With Retinal And Foveal Abnormalities	Optic atrophy, Attenuation of retinal blood vessels, Reduced visual acuity	OMIM:165510
Retinitis Pigmentosa 54	Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retinal blood vessels, Ro...	OMIM:613428
Ceroid Lipofuscinosis, Neuronal, 7	Optic atrophy, Cerebral atrophy, Visual loss, Cerebellar atrophy, Blindness, Retinopathy, Neurode...	OMIM:610951
Retinitis Pigmentosa 76	Constriction of peripheral visual field, Retinal thinning, Bone spicule pigmentation of the retin...	OMIM:617123
Macular Dystrophy, Vitelliform, 1	Macular dystrophy, Visual field defect, Reduced visual acuity, Vitelliform-like macular lesions, ...	OMIM:153840
Choroideremia	Abnormality of vision, Abnormality of retinal pigmentation, Myopia, Progressive visual loss, Visu...	ORPHA:180
Bothnia Retinal Dystrophy	Large central visual field defect, Color vision defect, Central scotoma, Increased OCT-measured f...	ORPHA:85128
Cone-Rod Dystrophy, X-Linked, 1	Color vision defect, Photophobia, Hypoautofluorescent macular lesion, Reduced visual acuity, Reti...	OMIM:304020
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy...	OMIM:614180
Leber-Like Hereditary Optic Neuropathy, Autosomal Recessive 1	Central retinal vessel vascular tortuosity, Retinal telangiectasia, Central scotoma, Reduced visu...	OMIM:619382
Retinitis Pigmentosa 35	Rod-cone dystrophy, Reduced visual acuity, Blindness, Nyctalopia	OMIM:610282
Retinitis Pigmentosa 68	Bone spicule pigmentation of the retina, Retinal atrophy, Visual field defect, Reduced visual acu...	OMIM:615725
Retinitis Pigmentosa 63	Rod-cone dystrophy, Nyctalopia, Optic disc pallor, Blurred vision	OMIM:614494
Macular Degeneration, Atrophic, X-Linked	Macular degeneration, Reduced visual acuity	OMIM:300834
Cone-Rod Dystrophy 12	Color vision defect, Central scotoma, Bull's eye maculopathy, Cone/cone-rod dystrophy, Reduced vi...	OMIM:612657
Retinitis Pigmentosa 17	Color vision defect, Bone spicule pigmentation of the retina, Photophobia, Rod-cone dystrophy, Ny...	OMIM:600852
Doyne Honeycomb Retinal Dystrophy	Reticular pigmentary degeneration, Retinal dystrophy, Visual impairment	OMIM:126600
Macular Dystrophy, Vitelliform, 3	Color vision defect, Macular dystrophy, Drusen, Choroidal neovascularization, Photophobia, Vitell...	OMIM:608161
Retinitis Pigmentosa 81	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Reduced visual acu...	OMIM:617871
Retinitis Pigmentosa 7	Constriction of peripheral visual field, Adult-onset night blindness, Chorioretinal atrophy, Atte...	OMIM:608133
Retinitis Pigmentosa 70	Constriction of peripheral visual field, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:615922
Retinitis Pigmentosa 32	Bone spicule pigmentation of the retina, Photophobia, Photoreceptor layer loss on macular OCT, Pi...	OMIM:609913
Cone Rod Dystrophy	Color vision defect, Photophobia, Abnormality of retinal pigmentation, Visual impairment, Nyctalopia	ORPHA:1872
Retinopathy Of Prematurity	Retinopathy of prematurity, Vitreous hemorrhage, Tractional retinal detachment, Reduced visual ac...	ORPHA:90050
Retinitis Pigmentosa 19	Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Optic disc pall...	OMIM:601718
Cone-Rod Dystrophy 22	Photophobia, Hyperautofluorescent macular lesion, Bull's eye maculopathy, Attenuation of retinal ...	OMIM:619531
Leber Congenital Amaurosis 4	Optic disc pallor, Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Reduced visual ...	OMIM:604393
Retinitis Pigmentosa 90	Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Cystoid macular...	OMIM:619007
Retinitis Pigmentosa 78	Cystoid macular edema, Photopsia, Visual field defect, Reduced visual acuity, Optic disc pallor, ...	OMIM:617433
Cone-Rod Dystrophy 15	Constriction of peripheral visual field, Color vision defect, Photophobia, Attenuation of retinal...	OMIM:613660
Retinitis Pigmentosa 20	Attenuation of retinal blood vessels, Rod-cone dystrophy, Severely reduced visual acuity, Visual ...	OMIM:613794
Bothnia Retinal Dystrophy	Macular degeneration, Retinal dystrophy, Nyctalopia	OMIM:607475
Retinitis Pigmentosa 69	Constriction of peripheral visual field, Perifoveal hypoautofluorescence, Reduced visual acuity, ...	OMIM:615780
Retinitis Pigmentosa 50	Retinal detachment, Attenuation of retinal blood vessels, Reduced visual acuity, Retinal flecks, ...	OMIM:613194
Retinitis Pigmentosa 38	Constriction of peripheral visual field, Progressive visual loss, Rod-cone dystrophy, Peripheral ...	OMIM:613862
Retinitis Pigmentosa 1	Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Scotoma, Attenu...	OMIM:180100
Cone-Rod Dystrophy 5	Color vision defect, Photophobia, Central scotoma, Macular degeneration, Cone/cone-rod dystrophy,...	OMIM:600977
Cone-Rod Dystrophy 13	Color vision defect, Photophobia, Macular degeneration, Cone/cone-rod dystrophy, Reduced visual a...	OMIM:608194
Retinitis Pigmentosa 71	Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of hyperautofluorescence...	OMIM:616394
Macular Dystrophy, Retinal, 4	Reduced OCT-measured foveal thickness, Reduced visual acuity, Choroidal neovascularization, Nycta...	OMIM:619977
Cone-Rod Dystrophy 21	Retinal dystrophy, Photophobia, Reduced visual acuity, Macular atrophy, Nyctalopia	OMIM:616502
Retinitis Pigmentosa 18	Scotoma, Nyctalopia, Retinal arteriolar constriction, Rod-cone dystrophy, Progressive visual fiel...	OMIM:601414
Retinitis Pigmentosa 85	Progressive night blindness, Rod-cone dystrophy, Reduced visual acuity	OMIM:618345
Cone-Rod Dystrophy 16	Bone spicule pigmentation of the retina, Photophobia, Cone/cone-rod dystrophy, Macular atrophy, A...	OMIM:614500
Best Vitelliform Macular Dystrophy	Cystoid macular degeneration, Color vision defect, Choroideremia, Visual field defect, Metamorpho...	ORPHA:1243
Neuropathy, Ataxia, And Retinitis Pigmentosa	Corticospinal tract atrophy, Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy...	OMIM:551500
Oguchi Disease 2	Congenital stationary night blindness, Mizuo phenomenon	OMIM:613411
Oguchi Disease 1	Congenital stationary night blindness, Mizuo phenomenon	OMIM:258100
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities	Retinal dystrophy, Photophobia, Central scotoma, Reduced visual acuity, Optic disc pallor, Nyctal...	OMIM:616079
Retinitis Pigmentosa 28	Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Rod-cone dystro...	OMIM:606068
Retinitis Pigmentosa 40	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:613801
Retinitis Pigmentosa 57	Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Cystoid macular...	OMIM:613582
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy, Visual impairment	OMIM:613827
Stargardt Disease	Retinal thinning, Abnormality of macular pigmentation, Macular degeneration, Yellow/white lesions...	ORPHA:827
Retinitis Pigmentosa 9	Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Macular edema, ...	OMIM:180104
Cone Dystrophy 3	Photophobia, Progressive visual loss, Cone/cone-rod dystrophy, Reduced visual acuity, Macular atr...	OMIM:602093
Retinitis Pigmentosa 79	Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Photophobia, At...	OMIM:617460
Intellectual Developmental Disorder, X-Linked, Syndromic, Gustavson Type	Optic atrophy, Severely reduced visual acuity, Blindness	OMIM:309555
Tritanopia	Tritanomaly, Color vision test abnormality, Photophobia, Reduced visual acuity, Abnormal retinal ...	ORPHA:88629
Cone-Rod Dystrophy 2	Constriction of peripheral visual field, Color vision defect, Bone spicule pigmentation of the re...	OMIM:120970
Leber Congenital Amaurosis 2	Photophobia, Blindness, Pigmentary retinopathy, Fundus atrophy, Attenuation of retinal blood vess...	OMIM:204100
Retinitis Pigmentosa 92	Constriction of peripheral visual field, Paracentral scotoma, Visual impairment, Pigmentary retin...	OMIM:619614
Retinitis Pigmentosa 3	Constriction of peripheral visual field, Color vision defect, Bone spicule pigmentation of the re...	OMIM:300029
Congenital Stationary Night Blindness	Retinal thinning, Color vision defect, Hypermetropia, Congenital stationary night blindness with ...	ORPHA:215
Exudative Vitreoretinopathy 3	Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Reduced visual acuity, Retinal ...	OMIM:605750
Usher Syndrome, Type Iid	Rod-cone dystrophy, Nyctalopia	OMIM:611383
Achromatopsia 7	Achromatopsia, Photophobia, Central scotoma, Hypoplasia of the fovea, Reduced visual acuity, Abse...	OMIM:616517
Exudative Vitreoretinopathy 5	Retinal exudate, Tractional retinal detachment, Exudative vitreoretinopathy, Reduced visual acuit...	OMIM:613310
Retinitis Pigmentosa 2	Constriction of peripheral visual field, Central scotoma, High myopia, Chorioretinal degeneration...	OMIM:312600
Macular Degeneration, Age-Related, 13	Drusen, Choroidal neovascularization, Macular degeneration, Macular scar, Progressive visual loss	OMIM:615439
Retinitis Pigmentosa 88	Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation...	OMIM:618826
Prolonged Electroretinal Response Suppression 2	Abnormal fundus morphology, Photophobia, Mildly reduced visual acuity, Difficulty adjusting to ch...	OMIM:620344
Usher Syndrome, Type Iiia	Visual field defect, Rod-cone dystrophy, Reduced visual acuity, Nyctalopia	OMIM:276902
Cone Dystrophy 4	Photophobia, Dyschromatopsia, Cone/cone-rod dystrophy, Reduced visual acuity, Absent foveal refle...	OMIM:613093
Usher Syndrome, Type Iv	Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Hyperautofluore...	OMIM:618144
Retinitis Pigmentosa 96	Constriction of peripheral visual field, Retinal thinning, Bone spicule pigmentation of the retin...	OMIM:620228
Fleck Retina, Familial Benign	Retinal flecks, Visual impairment, Nyctalopia	OMIM:228980
Microphthalmia, Isolated 5	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Photophobia, Cystoid...	OMIM:611040
Retinitis Pigmentosa	Constriction of peripheral visual field, Abnormality of fundus pigmentation, Rod-cone dystrophy, ...	OMIM:268000
Bestrophinopathy, Autosomal Recessive	Retinal flecks, Retinal pigment epithelial atrophy, Reduced visual acuity, Hypermetropia	OMIM:611809
Retinitis Pigmentosa 84	Macular coloboma, Bone spicule pigmentation of the retina, Visual acuity no light perception, Att...	OMIM:618220
X-Linked Retinal Dysplasia	Retinal dysplasia, Abnormality of retinal pigmentation, Visual impairment, Abnormal retinal vascu...	ORPHA:1852
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Chorioretinal dysplasia, Reduced visual acuity, Visual impairment	OMIM:616335
Retinitis Pigmentosa 95	Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Attenuation of ...	OMIM:620102
Optic Atrophy 5	Optic atrophy, Abnormality of pattern visual evoked potentials, Optic disc pallor	OMIM:610708
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy	Optic atrophy, Color vision defect, Reduced visual acuity, Optic disc pallor	OMIM:618511
Fundus Albipunctatus	Fundus albipunctatus, Retinal flecks, Nyctalopia	OMIM:136880
Macular Dystrophy With Central Cone Involvement	Macular dystrophy, Central scotoma, High myopia, Red-green dyschromatopsia, Optic disc pallor, Bu...	OMIM:616170
Achromatopsia	Color vision defect, Color vision test abnormality, Photophobia, Hypermetropia, Central scotoma, ...	ORPHA:49382
Cavitary Optic Disc Anomalies	Visual field defect, Peripapillary atrophy, Reduced visual acuity, Nyctalopia	OMIM:611543
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Visual field defect, Attenuation of retinal blood vessel...	OMIM:613809
Optic Atrophy 12	Optic atrophy, Photophobia, Dyschromatopsia, Reduced visual acuity, Abnormal Ishihara plate test,...	OMIM:618977
Retinal Cone Dystrophy 1	Color vision defect, Photophobia, Bull's eye maculopathy, Cone/cone-rod dystrophy, Retinal degene...	OMIM:180020
Retinal Cone Dystrophy 3B	Scotoma, Photophobia, Cone/cone-rod dystrophy, Reduced visual acuity, Myopia, Macular atrophy, Ny...	OMIM:610356
Retinal Cone Dystrophy 4	Constriction of peripheral visual field, Photophobia, Cone/cone-rod dystrophy, Reduced visual acu...	OMIM:610478
Retinal Capillary Malformation	Vitreous hemorrhage, Retinal exudate, Progressive visual loss, Photopsia, Vitreous floaters, Reti...	ORPHA:71213
Leber Congenital Amaurosis 9	Optic atrophy, Macular coloboma, Color vision defect, Ultra-low vision with retained light percep...	OMIM:608553
Blue Cone Monochromacy	Photophobia, Abnormality of macular pigmentation, Reduced visual acuity, Blue cone monochromacy, ...	OMIM:303700
Retinitis Pigmentosa 6	Constriction of peripheral visual field, Chorioretinal degeneration, Rod-cone dystrophy, Pigmenta...	OMIM:312612
Ceroid Lipofuscinosis, Neuronal, 3	Optic atrophy, Cerebral atrophy, Increased extraneuronal autofluorescent lipopigment, Macular deg...	OMIM:204200
Nystagmus 6, Congenital, X-Linked	Hypopigmentation of the fundus, Amblyopia, Retinal pigment epithelial mottling, Reduced visual ac...	OMIM:300814
Leber Congenital Amaurosis 14	Retinal dystrophy, Photophobia, Congenital blindness, Reduced visual acuity, Rod-cone dystrophy, ...	OMIM:613341
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Constriction of peripheral visual field, Cystoid macular degeneration, Hypermetropia, Retinal deg...	OMIM:267760
Optic Atrophy 3, Autosomal Dominant	Optic atrophy, Scotoma, Reduced visual acuity, Optic disc pallor	OMIM:165300
Optic Atrophy 16	Color vision defect, Visual loss, Central scotoma, Temporal optic disc pallor, Mildly reduced vis...	OMIM:620629
Retinitis Pigmentosa 12	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Reduced visual acu...	OMIM:600105
Retinitis Pigmentosa 13	Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Asteroid hyalos...	OMIM:600059
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig...	OMIM:613830
Leber Congenital Amaurosis 19	Retinal degeneration, Attenuation of retinal blood vessels, Optic disc pallor, Visual impairment	OMIM:618513
Leber Congenital Amaurosis With Early-Onset Deafness	Photophobia, Peripapillary atrophy, Reduced visual acuity, Retinal degeneration, High hypermetrop...	OMIM:617879
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina, Visual field defect	OMIM:610445
Morm Syndrome	Progressive night blindness, Retinal dystrophy, Retinal atrophy, Visual impairment	ORPHA:75858
Cone-Rod Dystrophy 20	Constriction of peripheral visual field, Tritanomaly, Bone spicule pigmentation of the retina, Ce...	OMIM:615973
Cone-Rod Dystrophy, X-Linked, 3	Color vision defect, Photophobia, Central scotoma, Retinal detachment, Abnormality of macular pig...	OMIM:300476
Intellectual Developmental Disorder, Autosomal Dominant 33	Amblyopia, Chorioretinal degeneration	OMIM:616311
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Tritanomaly, Retinal dystrophy, Reduced visual acuity, Absent foveal reflex, Peripheral retinal a...	OMIM:615147
Irvan Syndrome	Optic atrophy, Photophobia, Retinal exudate, Retinal detachment, Vitreous floaters, Tractional re...	ORPHA:209943
Optic Atrophy 15	Optic atrophy, Photophobia, Dyschromatopsia, Central scotoma, Reduced visual acuity, Optic disc p...	OMIM:620583
Chorioretinal Atrophy, Progressive Bifocal	Retinal detachment, Chorioretinal atrophy, Myopia, Visual impairment, Chorioretinal dystrophy	OMIM:600790
Retinitis Pigmentosa 31	Attenuation of retinal blood vessels, Visual field defect, Rod-cone dystrophy, Retinal pigment ep...	OMIM:609923
Night Blindness, Congenital Stationary, Type 1F	Congenital stationary night blindness, High myopia, Reduced visual acuity, Retinal perforation, N...	OMIM:615058
Leber Congenital Amaurosis 16	Photophobia, Optic disc pallor, Visual field defect, Reduced visual acuity, Visual impairment, Ny...	OMIM:614186
Optic Atrophy 6	Optic atrophy, Photophobia, Red-green dyschromatopsia, Retinal degeneration, Visual impairment	OMIM:258500
Retinal Dystrophy And Obesity	Retinal dystrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood vessels, Peripa...	OMIM:616188
Leber Congenital Amaurosis 1	Photophobia, Optic disc drusen, Pigmentary retinopathy, Fundus atrophy, Attenuation of retinal bl...	OMIM:204000
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation, Metamorphopsia	OMIM:233800
Exudative Vitreoretinopathy 4	Posterior vitreous detachment, Retinal exudate, Tractional retinal detachment, Reduced visual acu...	OMIM:601813
Cone-Rod Dystrophy 18	Foveal hyperpigmentation, Central scotoma, High myopia, Cone/cone-rod dystrophy, Foveal atrophy, ...	OMIM:615374
Retinal Cone Dystrophy 3A	Photophobia, Dyschromatopsia, High myopia, Cone dystrophy, Reduced visual acuity, Nyctalopia	OMIM:610024
Retinitis Pigmentosa 36	Undetectable electroretinogram, Bone spicule pigmentation of the retina, Macular degeneration, At...	OMIM:610599
Temporal Arteritis	Retinal arteritis, Blindness	OMIM:187360
Retinitis Pigmentosa 77	Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Cystoid macular...	OMIM:617304
Usher Syndrome, Type 1M	Drusen, Optic disc pallor, Nyctalopia	OMIM:618632
Intellectual Developmental Disorder And Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Abnormal flash visual evoked potentials, Macular degener...	OMIM:618195
Retinitis Pigmentosa 49	Bone spicule pigmentation of the retina, Peripheral visual field loss, Attenuation of retinal blo...	OMIM:613756
Bardet-Biedl Syndrome 21	Constriction of peripheral visual field, Retinal thinning, Hyperautofluorescent macular lesion, R...	OMIM:617406
Ceroid Lipofuscinosis, Neuronal, 6A	Retinal degeneration, Increased neuronal autofluorescent lipopigment, Progressive visual loss	OMIM:601780
Retinitis Pigmentosa 93	Constriction of peripheral visual field, Retinal dots, Rod-cone dystrophy, Reduced visual acuity	OMIM:619845
Retinitis Pigmentosa 83	Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Asteroid hyalos...	OMIM:618173
Retinitis Pigmentosa 58	Bone spicule pigmentation of the retina, Macular degeneration, Peripheral visual field loss, Atte...	OMIM:613617
Cleft Lip-Retinopathy Syndrome	Retinopathy, Abnormality of retinal pigmentation, Visual impairment	ORPHA:1995
Night Blindness, Congenital Stationary, Autosomal Dominant 3	Congenital stationary night blindness	OMIM:610444
Optic Atrophy 8	Optic atrophy, Abnormality of pattern visual evoked potentials, Abnormal auditory evoked potentia...	OMIM:616648
Wolfram-Like Syndrome, Autosomal Dominant	Optic atrophy, Blind-spot enlargment, Reduced visual acuity, Severely reduced visual acuity, Opti...	OMIM:614296
Idiopathic Uveal Effusion Syndrome	Retinal fold, Visual field defect, Reduced visual acuity, Exudative retinal detachment, Subretina...	ORPHA:209956
Nephronophthisis 15	Retinal degeneration, Blindness	OMIM:614845
Retinitis Pigmentosa 51	Bone spicule pigmentation of the retina, Photophobia, High myopia, Macular degeneration, Attenuat...	OMIM:613464
Retinitis Pigmentosa 66	Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Central scotoma...	OMIM:615233
Retinitis Pigmentosa 10	Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Geographic atro...	OMIM:180105
Peripheral Cone Dystrophy	Optic atrophy, Peripheral retinal degeneration, Paracentral scotoma, Pericentral scotoma, Cone/co...	OMIM:609021
Retinitis Pigmentosa 41	Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary retinopathy, Peripheral...	OMIM:612095
Gyrate Atrophy Of Choroid And Retina	Chorioretinal atrophy, Macular thickening, Visual impairment, Foveoschisis, Myopia, Blindness, Ny...	OMIM:258870
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa	Abnormal fundus morphology, Absent retinal pigment epithelium, Abnormal optic nerve morphology, A...	ORPHA:436274
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Macular exudate, Retinal neovascularization, Chorioretinal atrophy, Vitre...	ORPHA:891
Cone-Rod Dystrophy 8	Photophobia, Macular degeneration, Abnormal optic nerve morphology, Cone/cone-rod dystrophy, Peri...	OMIM:605549
Ceroid Lipofuscinosis, Neuronal, 1	Optic atrophy, Cerebral atrophy, Macular degeneration, Increased neuronal autofluorescent lipopig...	OMIM:256730
Cone-Rod Dystrophy 19	High myopia, Perifoveal ring of hyperautofluorescence, Reduced visual acuity, Cone/cone-rod dystr...	OMIM:615860
Retinitis Pigmentosa 86	Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund...	OMIM:618613
Hyperinsulinemic Hypoglycemia, Familial, 5	Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat...	OMIM:609968
Adult-Onset Foveomacular Vitelliform Dystrophy	Color vision defect, Abnormality of vision, Retinal nonattachment, Choroideremia, Visual field de...	ORPHA:99000
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Optic atrophy, Blindness	ORPHA:2787
Exudative Vitreoretinopathy 1	Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo...	OMIM:133780
Progressive Cone Dystrophy	Visual impairment, Color vision defect, Abnormality of retinal pigmentation, Photophobia	ORPHA:1871
Retinoschisis 1, X-Linked, Juvenile	Hypermetropia, Retinal detachment, Retinal atrophy, Retinoschisis, Macular atrophy, Peripheral cy...	OMIM:312700
Canavan Disease	Optic atrophy, Abnormality of visual evoked potentials, EEG abnormality, Abnormality of retinal p...	ORPHA:141
Macular Dystrophy, Retinal, 3	Color vision defect, Hyperautofluorescent macular lesion, Central scotoma, Macular drusen, Reduce...	OMIM:608850
Retinitis Pigmentosa 60	Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Optic disc pall...	OMIM:613983
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Arcuate scotoma, Retinal thinning, Visual loss, Choroidal neov...	ORPHA:179
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,...	OMIM:616108
Jalili Syndrome	Bone spicule pigmentation of the retina, Scotoma, Photophobia, Monochromacy, Optic disc pallor, C...	OMIM:217080
Vitreoretinopathy, Neovascular Inflammatory	Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ...	OMIM:193235
Congenital Glaucoma	Retinal detachment, Visual loss	ORPHA:98976
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Retinal dysplasia	OMIM:615041
Retinitis Pigmentosa 45	Bone spicule pigmentation of the retina, Macular degeneration, Peripheral visual field loss, Rod-...	OMIM:613767
Nanophthalmos 4	Optic disc drusen, Reduced visual acuity, Hypermetropia	OMIM:615972
Narp Syndrome	Constriction of peripheral visual field, Retinal arteriolar tortuosity, Corticospinal tract atrop...	ORPHA:644
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Reduced visual acuity, Retinal dystrophy, Nyctalopia	OMIM:610156
Retinitis Pigmentosa 25	Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Photophobia, Ch...	OMIM:602772
Retinitis Pigmentosa 72	Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Photophobia, Hi...	OMIM:616469
Chromosome Xq21 Deletion Syndrome	Constriction of peripheral visual field, Chorioretinal degeneration, Chorioretinal atrophy, Choro...	OMIM:303110
Night Blindness, Congenital Stationary, Type 1G	Constriction of peripheral visual field, Congenital stationary night blindness, Visual impairment...	OMIM:616389
Åland Islands Eye Disease	Color vision defect, Hypoplasia of the fovea, Reduced visual acuity, Difficulty adjusting from li...	ORPHA:178333
Cone-Rod Dystrophy 6	Bone spicule pigmentation of the retina, Photophobia, Dyschromatopsia, Progressive night blindnes...	OMIM:601777
Familial Drusen	Granular macular appearance, Macular dystrophy, Visual loss, Peripapillary chorioretinal atrophy,...	ORPHA:75376
Retinitis Pigmentosa 14	Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Reduced visual ...	OMIM:600132
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Color vision defect, Photophobia, Central scotoma, Blind-spot enlargment, Reduced visual acuity, ...	OMIM:616732
Cone-Rod Dystrophy 17	Photophobia, Central scotoma, Optic disc pallor, Cone/cone-rod dystrophy, Visual impairment	OMIM:615163
Cone-Rod Dystrophy 10	Bone spicule pigmentation of the retina, Photophobia, Macular degeneration, Peripheral visual fie...	OMIM:610283
Retinitis Pigmentosa 37	Constriction of peripheral visual field, Cystoid macular degeneration, Tritanomaly, Photophobia, ...	OMIM:611131
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Retinal detachment, Congenital blindness	ORPHA:436182
Retinitis Pigmentosa 43	Bone spicule pigmentation of the retina, Optic disc pallor, Peripheral visual field loss, Attenua...	OMIM:613810
Blue Cone Monochromatism	Blue cone monochromacy, Abnormality of retinal pigmentation, Photophobia, Visual impairment	ORPHA:16
Gyrate Atrophy Of Choroid And Retina	Constriction of peripheral visual field, Chorioretinal hyperpigmentation, Chorioretinal degenerat...	ORPHA:414
Optic Atrophy 14	Constriction of peripheral visual field, Reduced visual acuity, Optic disc pallor	OMIM:620550
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Retinal degeneration, High hypermetropia	OMIM:251700
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Myopia, Optic atrophy, Abnormality of retinal pigmentation, Visual impairment	ORPHA:1574
Spastic Paraplegia 82, Autosomal Recessive	Optic atrophy, Cerebral atrophy, Reduced visual acuity	OMIM:618770
Wagner Vitreoretinopathy	Optic atrophy, Visual loss, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitr...	OMIM:143200
Cone-Rod Dystrophy 11	Photophobia, Macular degeneration, Slow decrease in visual acuity, Bull's eye maculopathy, Cone/c...	OMIM:610381
Retinitis Punctata Albescens	Photophobia, Central scotoma, Yellow/white lesions of the retina, Progressive night blindness, Cy...	ORPHA:52427
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ...	OMIM:610021
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Retinal thinning, Optic disc pallor, Reduced visual acuity, Photophobia	OMIM:618970
Retinitis Pigmentosa 56	Bone spicule pigmentation of the retina, Pigmentary retinopathy, Visual field defect, Attenuation...	OMIM:613581
Chromosome 16Q12 Duplication Syndrome	Tritanomaly, Central thinning of the outer nuclear layer of the retina, Photophobia, Temporal opt...	OMIM:619649
Bardet-Biedl Syndrome 4	Retinal degeneration, Rod-cone dystrophy, Nyctalopia	OMIM:615982
Late-Onset Retinal Degeneration	Tritanomaly, Visual loss, Choroidal neovascularization, Photophobia, Drusen, Patchy atrophy of th...	ORPHA:67042
Bornholm Eye Disease	Deuteranopia, Protanopia, High myopia, Optic nerve hypoplasia, Abnormality of retinal pigmentatio...	OMIM:300843
Vitreoretinochoroidopathy	Color vision defect, Dyschromatopsia, Retinal detachment, Abnormality of chorioretinal pigmentati...	OMIM:193220
Eales Disease	Retinal thinning, Peripheral retinal neovascularization, Vitritis, Cystoid macular edema, Photops...	ORPHA:40923
Acute Zonal Occult Outer Retinopathy	Visual loss, Central scotoma, Marcus Gunn pupil, Visual field defect, Reduced visual acuity, Reti...	ORPHA:284454
Myopia, High, With Cataract And Vitreoretinal Degeneration	High myopia, Retinal detachment, Peripheral vitreoretinal degeneration, Mildly reduced visual acu...	OMIM:614292
Stickler Syndrome, Type I, Nonsyndromic Ocular	Myopia, Optically empty vitreous, Rhegmatogenous retinal detachment	OMIM:609508
Retinitis Pigmentosa 97	Macular degeneration, Reduced visual acuity, Rod-cone dystrophy, Amblyopia, Nyctalopia	OMIM:620422
Retinitis Pigmentosa 26	Constriction of peripheral visual field, Attenuation of retinal blood vessels, Visual impairment,...	OMIM:608380
Progressive Bifocal Chorioretinal Atrophy	Visual impairment, Myopia, Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy	ORPHA:75373
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Vitreoretinopathy, Abnormal optic disc morphology, Reduced visual acuity, Retinal vascular tortuo...	ORPHA:440727
Oculocutaneous Albinism Type 6	Abnormal foveal morphology on macular OCT, Abnormal fundus morphology, Photophobia, Reduced visua...	ORPHA:370097
Autosomal Dominant Optic Atrophy Plus Syndrome	Optic atrophy, Temporal optic disc pallor, Absent brainstem auditory responses, Abnormal retinal ...	ORPHA:1215
Bardet-Biedl Syndrome 5	Macular dystrophy, Rod-cone dystrophy, Reduced visual acuity	OMIM:615983
Retinitis Pigmentosa 75	Bone spicule pigmentation of the retina, Peripheral visual field loss, Attenuation of retinal blo...	OMIM:617023
Albinism, Oculocutaneous, Type Vi	Visual impairment, Hypoplasia of the fovea, Reduced visual acuity, Photophobia	OMIM:113750
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Optic Nerve Hypoplasia, Bilateral	Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo...	OMIM:165550
Congenital Glucokinase-Related Hyperinsulinism	Hypoketotic hypoglycemia, Abnormality of the autonomic nervous system, Type II diabetes mellitus,...	ORPHA:79299
Optic Atrophy 7 With Or Without Auditory Neuropathy	Constriction of peripheral visual field, Optic atrophy, Dyschromatopsia, Central scotoma, Optic d...	OMIM:612989
Bardet-Biedl Syndrome 3	Rod-cone dystrophy, Pigmentary retinopathy, Visual impairment, Nyctalopia	OMIM:600151
Hyperinsulinemic Hypoglycemia, Familial, 3	Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia	OMIM:602485
Autosomal Recessive Spastic Paraplegia Type 44	Abnormality of visual evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal...	ORPHA:320401
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold	OMIM:617572
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Hyporeflective spaces on macular OCT, Central retinal vessel vascular tortuosity, Retinal pigment...	ORPHA:506353
Spastic Paraplegia 81, Autosomal Recessive	Optic atrophy, Cerebral visual impairment, Reduced visual acuity, Retinal vascular tortuosity	OMIM:618768
Aland Island Eye Disease	Protanopia, Hypoplasia of the fovea, Myopia, Hypopigmentation of the fundus, Severely reduced vis...	OMIM:300600
Leber Congenital Amaurosis 8	Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Choriocapillaris at...	OMIM:613835
Night Blindness, Congenital Stationary, Type 1E	Congenital stationary night blindness, High myopia, Reduced visual acuity, Visual impairment	OMIM:614565
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Macular Degeneration, Age-Related, 1	Geographic atrophy, Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, ...	OMIM:603075
Chromosome Xp11.3 Deletion Syndrome	Moderate myopia, Constriction of peripheral visual field, Optic atrophy, Pigmentary retinopathy, ...	OMIM:300578
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina, Hemeralopia, Myop...	OMIM:257270
Ethanolaminosis	Cardiomegaly	OMIM:227150
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Visual loss, Blindness	ORPHA:171844
Exudative Vitreoretinopathy 2, X-Linked	High myopia, Retinal detachment, Retinal fold, Intraretinal exudate, Reduced visual acuity, Perip...	OMIM:305390
Optic Atrophy 1	Optic atrophy, Tritanomaly, Central scotoma, Red-green dyschromatopsia, Reduced visual acuity, Ce...	OMIM:165500
Bietti Crystalline Corneoretinal Dystrophy	Constriction of peripheral visual field, High myopia, Progressive night blindness, Chorioretinal ...	OMIM:210370
Oguchi Disease	Congenital stationary night blindness, Macular degeneration, Mizuo phenomenon, Myopia, Rod-cone d...	ORPHA:75382
Retinitis Pigmentosa 23	Constriction of peripheral visual field, Color vision defect, Photophobia, Mild myopia, Attenuati...	OMIM:300424
Hyperinsulinemic Hypoglycemia, Familial, 8	Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Atrial sep...	OMIM:620211
Early-Onset X-Linked Optic Atrophy	Optic atrophy, Color vision defect, Decreased nerve conduction velocity, Central scotoma, Reduced...	ORPHA:98890
Hypotrichosis With Juvenile Macular Degeneration	Abnormality of macular pigmentation, Macular degeneration, Blindness	ORPHA:1573
Enhanced S-Cone Syndrome	Vitreoretinopathy, Hemeralopia, Retinoschisis, Macular edema, Pigmentary retinopathy, Nyctalopia	OMIM:268100
Retinitis Pigmentosa 59	Constriction of peripheral visual field, Cystoid macular edema, Reduced visual acuity, Rod-cone d...	OMIM:613861
Sandhoff Disease	Cherry red spot of the macula, Blindness	ORPHA:796
Peroxisomal Acyl-Coa Oxidase Deficiency	Optic atrophy, Abnormality of visual evoked potentials, EEG abnormality, Abnormal electroretinogram	ORPHA:2971
Retinal Dystrophy With Or Without Macular Staphyloma	Bone spicule pigmentation of the retina, Photophobia, Central scotoma, Retinal dystrophy, Attenua...	OMIM:617547
Nystagmus 2, Congenital, Autosomal Dominant	Mildly reduced visual acuity, Reduced visual acuity, Visual impairment	OMIM:164100
Leber Congenital Amaurosis 15	Constriction of peripheral visual field, Color vision defect, Photophobia, Hypermetropia, Hemeral...	OMIM:613843
Cone-Rod Dystrophy 3	Color vision defect, Visual loss, Central scotoma, Optic disc pallor, Bull's eye maculopathy, Con...	OMIM:604116
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Dyschromatopsia, Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate, My...	OMIM:264420
Achromatopsia 2	Retinal thinning, Achromatopsia, Photophobia, Hemeralopia, Peripapillary atrophy, Reduced visual ...	OMIM:216900
Severe Early-Childhood-Onset Retinal Dystrophy	Color vision defect, Bone spicule pigmentation of the retina, Optic disc drusen, Rhegmatogenous r...	ORPHA:364055
Idiopathic Panuveitis	Choroidal neovascularization, Photophobia, Cystoid macular edema, Vitreous floaters, Abnormality ...	ORPHA:280921
Neovascular Glaucoma	Visual loss, Photophobia, Retinal detachment, Retinal vascular proliferation, Abnormal optic nerv...	ORPHA:94058
Night Blindness, Congenital Stationary, Type 2A	Congenital stationary night blindness, Reduced visual acuity, Visual impairment	OMIM:300071
3-Methylglutaconic Aciduria, Type Iii	Optic atrophy, Reduced visual acuity, Visual impairment	OMIM:258501
Hyperleucine-Isoleucinemia	Retinal degeneration	OMIM:238340
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypoglycemic seizures, Agitation, Hyperinsulinemia, Maternal diabetes, Diffuse pancreatic islet h...	ORPHA:276580
Microphthalmia/Coloboma 12	Microphthalmia, Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal colob...	OMIM:120200
Optic Pathway Glioma	Optic atrophy, Visual loss, Papilledema, Visual field defect, Reduced visual acuity, Blindness	ORPHA:2086
Oculocutaneous Albinism, Type Viii	Chorioretinal hypopigmentation, Hypoplasia of the fovea, Reduced visual acuity, Photophobia	OMIM:619165
Hyperinsulinism Due To Insr Deficiency	Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ...	ORPHA:263458
Retinitis Pigmentosa 89	Constriction of peripheral visual field, Retinal thinning, Hyperautofluorescent retinal lesion, R...	OMIM:618955
Night Blindness, Congenital Stationary, Type 1C	Congenital stationary night blindness, Myopia, Reduced visual acuity	OMIM:613216
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Myopia, Optic nerve hypoplasia, Retinal detachment, Blindness	OMIM:615181
Atypical Pantothenate Kinase-Associated Neurodegeneration	Retinopathy, Optic atrophy, Blindness	ORPHA:216873
Retinitis Pigmentosa	Optic atrophy, Bone spicule pigmentation of the retina, Photophobia, Progressive night blindness,...	ORPHA:791
Microphthalmia, Isolated 6	High hypermetropia, Amblyopia, Retinal fold	OMIM:613517
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Undetectable electroretinogram, Abnormality of pattern visual evoked potentials, EEG with abnorma...	ORPHA:1947
Hyperinsulinism Due To Hnf1A Deficiency	Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo...	ORPHA:324575
Oculocutaneous Albinism Type 1	Optic nerve misrouting, Abnormal morphology of the choroidal vasculature, Depigmented fundus, Abn...	ORPHA:352731
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor	OMIM:617523
Central Retinal Vein Occlusion	Large central visual field defect, Visual loss, Retinal neovascularization, Macular degeneration,...	ORPHA:411527
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypoglycemic seizures, Agitation, Hyperinsulinemia, Hepatomegaly, Diffuse pancreatic islet hyperp...	ORPHA:276575
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Polyphagia, Abnormal autonomic nervous system physiology, Attention deficit hyp...	ORPHA:369873
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Chorioretinal coloboma, Severely reduced visual acuity, Moderately reduced visual acuity, Retinal...	ORPHA:2921
Hyperinsulinism-Hyperammonemia Syndrome	Attention deficit hyperactivity disorder, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia...	ORPHA:35878
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Decreased sensory nerve conduction velocity, Bone spicule pigmentation of the reti...	OMIM:609033
Hyperinsulinemic Hypoglycemia, Familial, 1	Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia	OMIM:256450
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory...	OMIM:125250
Exudative Vitreoretinopathy 6	Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the retinal pigment epithelium,...	OMIM:616468
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,...	OMIM:147630
Foveal Hypoplasia 2	Hypoplasia of the fovea, Optic nerve misrouting, Foveal hyperpigmentation, Reduced visual acuity	OMIM:609218
Morning Glory Disc Anomaly	Retinal detachment, Abnormality of retinal pigmentation, Amblyopia, Optic disc coloboma	ORPHA:35737
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Abnormal chorioretinal morphology, Visual loss, Photophobia, Chorioretinal atrophy, Retinopathy, ...	ORPHA:5
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Myopia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Nyctalopia	ORPHA:1390
Behr Syndrome	Optic atrophy, Cerebellar vermis atrophy, Cerebellar atrophy, Blindness, Hypoplastic optic chiasm...	OMIM:210000
Stickler Syndrome Type 2	Myopia, Abnormal vitreous humor morphology, Retinal detachment, Retinopathy	ORPHA:90654
Krabbe Disease	Optic atrophy, EEG abnormality, Decreased nerve conduction velocity, Abnormal flash visual evoked...	OMIM:245200
Late Infantile Neuronal Ceroid Lipofuscinosis	Multifocal epileptiform discharges, EEG with spike-wave complexes, Abnormal amplitude of flash vi...	ORPHA:168491
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Rod-cone dystrophy, Reduced visual acuity	OMIM:619082
Bardet-Biedl Syndrome 16	Retinal degeneration, Rod-cone dystrophy, Reduced visual acuity	OMIM:615993
Osteoporosis-Pseudoglioma Syndrome	Abnormal vitreous humor morphology, Retinal detachment, Exudative retinopathy, Congenital blindne...	ORPHA:2788
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Optic atrophy, Decreased nerve conduction velocity, Hypsarrhythmia, Abnormality of visual evoked ...	ORPHA:485421
Leber Congenital Amaurosis 6	Attenuation of retinal blood vessels, High hypermetropia, Severely reduced visual acuity, Photoph...	OMIM:613826
Hyperinsulinemic Hypoglycemia, Familial, 2	Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia	OMIM:601820
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Optic atrophy, Decreased motor nerve conduction velocity, Abnormality of visual evoked potentials...	OMIM:601152
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperinsulinemia, Polyphagia, Aggressive behavior	ORPHA:329249
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
Severe Canavan Disease	Optic atrophy, Blindness	ORPHA:314911
Ataxia With Vitamin E Deficiency	Abnormality of visual evoked potentials, Abnormality of retinal pigmentation	ORPHA:96
Schizophrenia 15	Hyperactivity	OMIM:613950
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Undetectable visual evoked potentials, Rod-cone dystrophy, Patchy atrophy of the retinal pigment ...	ORPHA:436245
Ophthalmoplegia, External, And Myopia	Myopia, Retinal degeneration, Chorioretinal degeneration	OMIM:311000
Sarcosinemia	Optic atrophy, Congenital blindness	ORPHA:3129
Myopia 28, Autosomal Recessive	High myopia, Retinal detachment	OMIM:619781
Retinitis Pigmentosa 46	Constriction of peripheral visual field, Pigmentary retinopathy, Attenuation of retinal blood ves...	OMIM:612572
Myopia 3, Autosomal Dominant	High myopia, Retinal detachment	OMIM:603221
Myopia 25, Autosomal Dominant	High myopia, Retinal detachment	OMIM:617238
Myopia 2, Autosomal Dominant	High myopia, Retinal detachment	OMIM:160700
Myopia 5, Autosomal Dominant	High myopia, Retinal detachment	OMIM:608474
Sjogren-Larsson Syndrome	Retinal thinning, Color vision defect, Macular dots, Photophobia, Macular degeneration, Macular c...	OMIM:270200
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy, Abnorma...	OMIM:125310
Insulin Autoimmune Syndrome	Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance,...	ORPHA:411593
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Abnormal electroret...	ORPHA:1933
Juvenile Neuronal Ceroid Lipofuscinosis	Large central visual field defect, Cerebral atrophy, Visual loss, Cerebellar atrophy, Blindness, ...	ORPHA:79264
Peho Syndrome	Optic atrophy, Undetectable visual evoked potentials, Hypsarrhythmia	OMIM:260565
Retinitis Pigmentosa And Erythrocytic Microcytosis	Bone spicule pigmentation of the retina, Peripheral retinal atrophy, Retinal atrophy, Photorecept...	OMIM:616959
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Agitation, Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Hyperinsulinemic hyp...	ORPHA:276608
Wolfram Syndrome, Mitochondrial Form	Optic atrophy, Abnormal autonomic nervous system physiology, Blindness	OMIM:598500
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Cerebral atrophy, Retinal dystrophy, Retinal detachment, Optic disc pallor, Abnormality of retina...	OMIM:251270
X-Linked Neurodegenerative Syndrome, Hamel Type	Blindness	ORPHA:85336
Hyperproinsulinemia	Hyperinsulinemia, Hyperglycemia	OMIM:616214
Retinitis Pigmentosa 87 With Choroidal Involvement	Bone spicule pigmentation of the retina, Chorioretinal atrophy, Peripheral visual field loss, Num...	OMIM:618697
Leukodystrophy, Hypomyelinating, 14	Cerebral atrophy, Cerebellar atrophy, Blindness	OMIM:617899
Peroxisome Biogenesis Disorder 9B	Constriction of peripheral visual field, Rod-cone dystrophy, Reduced visual acuity, Nyctalopia	OMIM:614879
Hyperinsulinism Due To Ucp2 Deficiency	Hypoglycemic seizures, Agitation, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Hypoketotic...	ORPHA:276556
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Blindness	ORPHA:216866
Retinal Dystrophy With Or Without Extraocular Anomalies	Reduced visual acuity, Retinal dystrophy	OMIM:617175
Neurodegeneration With Brain Iron Accumulation 2A	Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity	OMIM:256600
Spastic Paraplegia 55, Autosomal Recessive	Optic atrophy, Reduced visual acuity, Central scotoma	OMIM:615035
Oculocutaneous Albinism Type 5	Abnormal fundus morphology, Photophobia, Hypoplasia of the fovea, Reduced visual acuity, Ocular a...	ORPHA:370091
Cerebral Sclerosis, Diffuse, Scholz Type	Blindness	OMIM:302700
Mepan Syndrome	Optic atrophy, Abnormality of visual evoked potentials	ORPHA:508093
Mohr-Tranebjaerg Syndrome	Optic atrophy, Abnormality of visual evoked potentials, Abnormality of somatosensory evoked poten...	ORPHA:52368
Poretti-Boltshauser Syndrome	Retinal thinning, Retinal dystrophy, Retinal atrophy, Myopia, Amblyopia	OMIM:615960
8p23.1 deletion syndrome	Hyperactivity, Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology	DECIPHER:39
Stickler Syndrome, Type V	High myopia, Vitreoretinopathy, Retinal detachment	OMIM:614284
Xq12-Q13.3 Duplication Syndrome	Hypsarrhythmia, Abnormality of visual evoked potentials, Optic disc pallor	ORPHA:314389
Hypoglycemia, Leucine-Induced	Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:240800
Leukoencephalopathy With Vanishing White Matter 1	Optic atrophy, Blindness	OMIM:603896
Developmental And Epileptic Encephalopathy 3	Abnormality of visual evoked potentials, EEG with burst suppression	OMIM:609304
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Macular atrophy, Rod-cone dystrophy, Reduced visual acuity, Optic disc pallor	OMIM:615434
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Optic atrophy, Abnormality of visual evoked potentials, Abnormal electroretinogram	OMIM:616875
Infantile Refsum Disease	Constriction of peripheral visual field, Optic atrophy, Facial palsy, Rod-cone dystrophy, Visual ...	ORPHA:772
Spinocerebellar Ataxia Type 1	Optic atrophy, Abnormal flash visual evoked potentials, Abnormality of somatosensory evoked poten...	ORPHA:98755
Canavan Disease	Visual impairment, Brain atrophy, Optic atrophy, Blindness	OMIM:271900
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Severely reduced visual acuity, Abnormal optic disc morphology	ORPHA:65
Friedreich Ataxia	Optic atrophy, Abnormality of visual evoked potentials, Decreased amplitude of sensory action pot...	OMIM:229300
Microphthalmia, Syndromic 3	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Anterior pituitary hypoplasia, Optic nerve ...	OMIM:206900
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Optic atrophy, Undetectable visual evoked potentials	OMIM:601338
Hsd10 Disease, Infantile Type	Optic atrophy, Frontotemporal cerebral atrophy, Cerebral atrophy, Visual loss, Diffuse cerebral a...	ORPHA:391428
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Macular coloboma, Retinal dystrophy, Undetectable visual evoked potentials, Aplasia/Hypoplasia of...	ORPHA:423479
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Albinism, Ocular, Type I	Photophobia, Depigmented fundus, Hypoplasia of the fovea, Reduced visual acuity, Ocular albinism	OMIM:300500
Usher Syndrome	Cerebral cortical atrophy, Visual field defect, Abnormality of retinal pigmentation, Visual impai...	ORPHA:886
Pelizaeus-Merzbacher Disease	Optic atrophy, Abnormality of visual evoked potentials	ORPHA:702
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Polyphagia, Type II diabetes mellitus	ORPHA:71529
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Cone-Rod Dystrophy And Hearing Loss 1	Photophobia, Dyschromatopsia, Macular degeneration, Hemeralopia, Retinal atrophy, Visual impairment	OMIM:617236
Charcot-Marie-Tooth Disease, Type 4D	Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Abnormal auditory e...	OMIM:601455
Retinal Dystrophy And Microvillus Inclusion Disease	Severely reduced visual acuity, Optic disc pallor	OMIM:619446
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia, Polyphagia	OMIM:618406
Retinitis Pigmentosa 74	Constriction of peripheral visual field, Pigmentary retinopathy, Reduced visual acuity, Rod-cone ...	OMIM:616562
Mucous Membrane Pemphigoid	Blindness	ORPHA:46486
Spastic Paraplegia 79B, Autosomal Recessive	Optic atrophy, Abnormality of visual evoked potentials, Opto-chiasmatic atrophy	OMIM:615491
Oculocutaneous Albinism Type 1A	Abnormality of visual evoked potentials, Hypoplasia of the fovea, Abnormal optic nerve morphology...	ORPHA:79431
Spinocerebellar Ataxia Type 7	Cerebral atrophy, Visual loss, Abnormal fundus morphology, Photophobia, Macular degeneration, Hem...	ORPHA:94147
Senior-Loken Syndrome 4	Amblyopia, Rod-cone dystrophy, Severely reduced visual acuity	OMIM:606996
Bdv Syndrome	Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo...	OMIM:619326
Obesity Due To Prohormone Convertase I Deficiency	Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy...	ORPHA:71526
Albinism, Oculocutaneous, Type Ii	Hypoplasia of the fovea, Reduced visual acuity, Myopia, Hypopigmentation of the fundus, Visual im...	OMIM:203200
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Undetectable visual evoked potentials, Chorioretinal coloboma	ORPHA:163961
Jalili Syndrome	Optic atrophy, Color vision defect, Photophobia, Abnormality of retinal pigmentation, Visual impa...	ORPHA:1873
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Optic atrophy, Abnormality of visual evoked potentials, EEG abnormality	ORPHA:480898
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy, Reduced visual acuity	OMIM:616722
Intellectual Developmental Disorder, X-Linked 109	Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic...	OMIM:309548
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Abnormality of visual evoked potentials	ORPHA:1389
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Diabetes mellitus, Hyperinsulinemia, Hepatomegaly	ORPHA:79084
Migraine, Familial Hemiplegic, 3	Blindness, Photophobia	OMIM:609634
Obesity And Hypopigmentation	Hyperinsulinemia, Polyphagia	OMIM:620195
Achalasia-Addisonianism-Alacrima Syndrome	Optic atrophy, Orthostatic hypotension, Abnormal autonomic nervous system physiology, Abnormality...	OMIM:231550
Infantile Neuroaxonal Dystrophy	Optic atrophy, Abnormality of visual evoked potentials, Abnormality of peripheral nerve conductio...	ORPHA:35069
Mpdu1-Cdg	Optic atrophy, Undetectable visual evoked potentials, Hypsarrhythmia	ORPHA:79323
Fraxe Intellectual Disability	Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic...	ORPHA:100973
Smith-Magenis syndrome	Hyperactivity, Self-mutilation, Motor stereotypy	DECIPHER:8
Insulinoma	Hyperinsulinemia, Neoplasm of the adrenal gland, Polyphagia, Primary hyperparathyroidism, Pituita...	ORPHA:97279
Homozygous 11P15-P14 Deletion Syndrome	Hypoglycemia, Hyperinsulinemia	OMIM:606528
Madras Motor Neuron Disease	Optic atrophy, Facial palsy, Reduced visual acuity, Visual impairment	ORPHA:137867
Norrie Disease	Optic atrophy, Retinal dysplasia, Retinal detachment, Blindness, Retinal fold	OMIM:310600
Micro Syndrome	Optic atrophy, Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Reti...	ORPHA:2510
Hyperinsulinemic Hypoglycemia, Familial, 6	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Abnormality of the pancreatic islet cells	OMIM:606762
Joubert Syndrome 6	Retinal degeneration, Chorioretinal coloboma, Blindness	OMIM:610688
Cataract 50 With Or Without Glaucoma	Retinal detachment	OMIM:620253
Night Blindness, Congenital Stationary, Type 1H	Mild myopia, Nyctalopia, Photophobia, Hypermetropia	OMIM:617024
Oculocutaneous Albinism Type 4	Optic nerve misrouting, Photophobia, Abnormality of retinal pigmentation, Hypoplasia of the fovea...	ORPHA:79435
Primary Non-Essential Cutis Verticis Gyrata	Abnormality of pattern visual evoked potentials	ORPHA:357225
Macrophthalmia, Colobomatous, With Microcornea	Chorioretinal coloboma, Reduced visual acuity, Optic disc coloboma, Myopia, Macular atrophy	OMIM:602499
Methanol Poisoning	Abnormal optic nerve morphology, Blindness, Visual impairment, Blurred vision	ORPHA:31825
Autosomal Recessive Stickler Syndrome	Myopia, Vitreoretinopathy, Retinal detachment, Amblyopia	ORPHA:250984
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Night Blindness, Congenital Stationary, Type1I	Tritanomaly, Nyctalopia	OMIM:618555
Obesity Due To Congenital Leptin Deficiency	Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se...	ORPHA:66628
Transient Neonatal Diabetes Mellitus	Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Abnorma...	ORPHA:99886
Usher Syndrome Type 1	Visual loss, Scotoma, Subcortical cerebral atrophy, Cerebral cortical atrophy, Hemianopia, High h...	ORPHA:231169
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Pigmentary retinopathy, Blindness	OMIM:560000
Late-Infantile/Juvenile Krabbe Disease	Abnormality of visual evoked potentials, Delayed brainstem auditory evoked response conduction ti...	ORPHA:206443
Refsum Disease, Classic	Retinal degeneration, Rod-cone dystrophy, Nyctalopia	OMIM:266500
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy, Reduced visual acuity, Blindness	ORPHA:3208
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Retinal dystrophy, Blindness	ORPHA:713
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome	Optic atrophy, Cerebral visual impairment, Visual field defect, Reduced visual acuity, Optic disc...	OMIM:615722
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Obesity Due To Leptin Receptor Gene Deficiency	Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se...	ORPHA:179494
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Visual loss, Axonal degeneration, Abnormal sensory nerve...	ORPHA:88628
Spastic Paraplegia 75, Autosomal Recessive	Optic atrophy, Hypermetropia, Cerebellar atrophy, Corpus callosum atrophy, Reduced visual acuity	OMIM:616680
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Vitreous floaters, Visual impairment, Retinal pigment epitheli...	OMIM:605808
Fuchs Heterochromic Iridocyclitis	Photophobia, Vitreous floaters, Chorioretinal scar, Optic disc pallor, Best corrected visual acui...	ORPHA:263479
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Retinal dystrophy, Hypermetropia, Retinal atrophy, Myopia, Amblyopia	ORPHA:370022
Refsum Disease	Abnormality of vision, Retinopathy, Abnormality of retinal pigmentation, Progressive visual loss,...	ORPHA:773
Coloboma, Ocular, Autosomal Recessive	Reduced visual acuity, Optic disc coloboma, Retinal coloboma	OMIM:216820
Sturge-Weber Syndrome	Optic atrophy, Retinal detachment, Abnormality of vision, Blindness, Cerebral cortical atrophy, H...	ORPHA:3205
Metachromatic Leukodystrophy, Late Infantile Form	Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity	ORPHA:309256
Leber Congenital Amaurosis 3	Constriction of peripheral visual field, Visual loss, Nyctalopia	OMIM:604232
Corneal Dystrophy, Gelatinous Drop-Like	Visual impairment, Reduced visual acuity, Photophobia, Blurred vision	OMIM:204870
14Q22Q23 Microdeletion Syndrome	Diabetes insipidus, Anophthalmia, Anterior pituitary hypoplasia, Adrenal hypoplasia, Abnormality ...	ORPHA:264200
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Retinal degeneration, Abnormality of pattern visual evoked potentials, Rod-cone dystrophy, Abnorm...	ORPHA:166035
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Retinal dysplasia	OMIM:614830
Lowry-Wood Syndrome	Peripheral visual field loss, Pigmentary retinopathy, Nyctalopia	OMIM:226960
Cataract 11, Multiple Types	Blindness	OMIM:610623
Metachromatic Leukodystrophy, Juvenile Form	Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity	ORPHA:309263
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration	OMIM:193230
Albers-Schönberg Osteopetrosis	Visual impairment, Optic atrophy, Facial palsy, Blindness	ORPHA:53
Joubert Syndrome 35	Rod-cone dystrophy, Progressive visual loss, Nyctalopia	OMIM:618161
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy	Blindness	OMIM:607674
Body Mass Index Quantitative Trait Locus 19	Increased serum leptin, Insulin resistance, Hyperinsulinemia, Polyphagia	OMIM:617885
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Optic atrophy, Nyctalopia	ORPHA:99947
Cohen Syndrome	Optic atrophy, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Reduced visual ac...	OMIM:216550
Lethal Ataxia With Deafness And Optic Atrophy	Optic atrophy, Blindness, Decreased motor nerve conduction velocity, Abnormality of somatosensory...	ORPHA:1187
Isolated Atp Synthase Deficiency	Optic atrophy, Cerebellar atrophy, Cerebral cortical atrophy, Rod-cone dystrophy, Blindness	ORPHA:254913
Cach Syndrome	Optic atrophy, Cerebral atrophy, Optic neuritis, Atrophy/Degeneration affecting the brainstem, Ce...	ORPHA:135
Infantile Krabbe Disease	Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc...	ORPHA:206436
Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Pallidal degeneration, Blindness, Pigmentary retinopathy, Bull's eye maculopathy, ...	ORPHA:157850
Persistent Hyperplastic Primary Vitreous	Remnants of the hyaloid vascular system, Retinal fold, Tractional retinal detachment, Reduced vis...	ORPHA:91495
Stickler Syndrome, Type I	Retinal detachment, Membranous vitreous appearance, Vitreoretinopathy, Myopia, Retinal hole, Blin...	OMIM:108300
Infantile Neuronal Ceroid Lipofuscinosis	Cerebral atrophy, Visual loss, Brain atrophy, Cerebellar atrophy, Cerebral cortical atrophy, Incr...	ORPHA:79263
Usher Syndrome Type 3	Visual loss, Scotoma, Hemianopia, High hypermetropia, Nyctalopia	ORPHA:231183
Spastic Paraplegia 15, Autosomal Recessive	Macular degeneration, Retinal degeneration, Reduced visual acuity, Visual impairment	OMIM:270700
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic atrophy, Retinal detachment, Optic nerve hypoplasia, Myopia, Blindness	ORPHA:370959
Cognitive Impairment With Or Without Cerebellar Ataxia	Attention deficit hyperactivity disorder, Optic nerve hypoplasia, Severe temper tantrums	OMIM:614306
Primary Angiitis Of The Central Nervous System	Pseudopapilledema, Amaurosis fugax, Abnormal visual field test, Reduced visual acuity, Blurred vi...	ORPHA:140989
Cancer-Associated Retinopathy	Constriction of peripheral visual field, Optic atrophy, Granular macular appearance, Adult-onset ...	ORPHA:71505
Long-Olsen-Distelmaier Syndrome	Microspherophakia, Optic nerve hypoplasia, Secundum atrial septal defect, Cardiomegaly, Hypoglyce...	OMIM:620609
Cataract 21, Multiple Types	High myopia, Retinal detachment, Macular hypoplasia	OMIM:610202
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Delayed puberty, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche	OMIM:616033
Plin1-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Abnormal circulating hormone co...	ORPHA:280356
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hyperinsulinemia, Fasting hypoglycemia, Precocious puberty, Hyperglycemia, Diabetic ketoacidosis,...	OMIM:262190
Intellectual Developmental Disorder, X-Linked 101	Optic atrophy, Hyperactivity	OMIM:300928
Microphthalmia/Coloboma 9	Retinal detachment, Macular coloboma, Reduced visual acuity, Visual impairment	OMIM:615145
Tay-Sachs Disease	Cherry red spot of the macula, Blindness	OMIM:272800
Severe Neurodegenerative Syndrome With Lipodystrophy	Hyperactivity, Insulin resistance, Hyperinsulinemia, Hepatomegaly	ORPHA:363400
Senior-Loken Syndrome 8	Retinal dystrophy, Reduced visual acuity, Rod-cone dystrophy, Macular atrophy, Visual impairment	OMIM:616307
Aniridia 2	Optic atrophy, Amblyopia	OMIM:617141
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Abnormality of visual evoked potentials	OMIM:614457
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Optic atrophy, Hypermetropia, Retinal detachment, Chorioretinal lacunae, Reduced visual acuity, M...	OMIM:152950
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Optic atrophy, Spinocerebellar atrophy, Blindness	ORPHA:95433
Intermediate Uveitis	Cystoid macular edema, Optic neuritis, Vitreous floaters, Vitreous snowballs, Vitreous haze, Epir...	ORPHA:279914
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	High myopia, Cerebellar atrophy, Cerebral cortical atrophy, Myopia, Rod-cone dystrophy, Nyctalopia	OMIM:617763
Joubert Syndrome 30	Cerebellar atrophy, Reduced visual acuity, Retinal dystrophy	OMIM:617622
Cranioectodermal Dysplasia 4	Rod-cone dystrophy, Nyctalopia, Visual impairment, Hypermetropia	OMIM:614378
Combined Oxidative Phosphorylation Deficiency 34	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:617872
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Aplasia/Hypoplasia of the optic nerve, Optic nerve hypoplasia, Pulmonic stenosis, Abnormal pulmon...	ORPHA:137634
Megalocornea	Retinal detachment, Reduced visual acuity	OMIM:309300
Optic Atrophy 11	Optic atrophy, Decreased sensory nerve conduction velocity, Hyperactivity, Optic nerve hypoplasia...	OMIM:617302
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Retinal degeneration, Nyctalopia	OMIM:615630
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Optic atrophy, Central scotoma, Cerebellar atrophy, Blindness, Diffuse cerebral atrophy, Visual i...	ORPHA:543470
Warburg Micro Syndrome 2	Optic atrophy, Undetectable visual evoked potentials	OMIM:614225
Metachromatic Leukodystrophy, Adult Form	Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Orth...	ORPHA:309271
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Abnormality of retinal pigmentation, Type II diabetes mellitus, Hypergonadotrop...	ORPHA:3085
Ruvalcaba Syndrome	Abnormality of visual evoked potentials, Abnormal electroretinogram	ORPHA:3121
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities	Attention deficit hyperactivity disorder, Optic nerve hypoplasia, Motor stereotypy	OMIM:620502
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Neonatal hypoglycemia, Hyperinsulinemia, Agitation, Hepatomegaly, Hypoketotic hypoglycemia, Fasti...	ORPHA:263455
Severe X-Linked Intellectual Disability, Gustavson Type	Optic atrophy, Brain atrophy, Blindness	ORPHA:3078
Osteopetrosis, Autosomal Recessive 2	Optic atrophy, Facial paralysis, Blindness, Cranial nerve compression	OMIM:259710
White-Sutton Syndrome	Abnormality of visual evoked potentials, Optic nerve hypoplasia, Rod-cone dystrophy, Abnormal ele...	OMIM:616364
Joubert Syndrome With Oculorenal Defect	Aganglionic megacolon, Retinal dystrophy, Blindness, Chorioretinal coloboma, Visual impairment	ORPHA:2318
Microphthalmia-Brain Atrophy Syndrome	Cerebellar vermis atrophy, Atrophy/Degeneration affecting the brainstem, Corpus callosum atrophy,...	ORPHA:77299
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Congenital hypothyroidism	ORPHA:88643
Optic Atrophy-Intellectual Disability Syndrome	Optic atrophy, Optic disc hypoplasia, Hypermetropia, Optic nerve hypoplasia, Cerebral visual impa...	ORPHA:401777
Septooptic Dysplasia	Decreased response to growth hormone stimulation test, Optic disc hypoplasia, Diabetes insipidus,...	OMIM:182230
Mogs-Cdg	Optic atrophy, Abnormality of visual evoked potentials, Absent brainstem auditory responses	ORPHA:79330
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect, Optic disc pallor	OMIM:619170
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Undetectable visual evoked potentials	OMIM:619051
Momo Syndrome	Blindness, Retinal coloboma	OMIM:157980
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal response to glucagon stimul...	ORPHA:79644
Cinca Syndrome	Visual impairment, Retrobulbar optic neuritis, Blindness, Pseudopapilledema	ORPHA:1451
Bardet-Biedl Syndrome 20	Constriction of peripheral visual field, Hypermetropia, Hemeralopia, Papilledema, Rod-cone dystro...	OMIM:619471
Chromosome 19P13.13 Deletion Syndrome	Optic atrophy, Optic nerve hypoplasia, Self-injurious behavior	OMIM:613638
Antiphospholipid Syndrome, Familial	Visual loss, Retinal detachment, Retinal vasculitis, Central retinal artery occlusion, Vitritis, ...	OMIM:107320
Aica-Ribosiduria Due To Atic Deficiency	Optic atrophy, Congenital blindness	OMIM:608688
Mody	Neonatal hypoglycemia, Hypoinsulinemia, Retinopathy, Glycosuria, Abnormal circulating insulin con...	ORPHA:552
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Hypoinsulinemia, Hypoglycemia, Fasting hypoglycemia	OMIM:240900
Perlman Syndrome	Hyperinsulinemia, Hepatomegaly	ORPHA:2849
Microphthalmia, Isolated 8	Microphthalmia, True anophthalmia, Anophthalmia, Retinal detachment, Optic nerve hypoplasia, Reti...	OMIM:615113
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypocystinemia, Hypohomocysteinemia	OMIM:617744
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Optic nerve hypoplasia, Neonatal insulin-dependent diabetes mellitus	ORPHA:65288
Osteopetrosis, Autosomal Recessive 1	Optic atrophy, Facial palsy, Blindness, Facial paralysis, Visual impairment	OMIM:259700
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity	OMIM:301008
Attrv30M Amyloidosis	Cardiomegaly, Vitreous floaters, Cardiomyopathy, Abnormal autonomic nervous system physiology	ORPHA:85447
Intellectual Developmental Disorder, Autosomal Dominant 67	Hyperactivity, Compulsive behaviors, Hypothyroidism, Motor tics, Attention deficit hyperactivity ...	OMIM:619927
Cherubism	Constriction of peripheral visual field, Marcus Gunn pupil, Optic neuropathy, Reduced visual acui...	OMIM:118400
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	High myopia, Optic atrophy, Cerebral atrophy, Blindness	OMIM:220500
Lipodystrophy, Familial Partial, Type 3	Hyperinsulinemia, Maternal diabetes, Hyperglycemia, Type II diabetes mellitus, Insulin resistance...	OMIM:604367
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Peripheral visual field loss, Retinal degeneration, Rod-cone dystrophy, Hypoautofluorescent retin...	OMIM:250410
Autosomal Recessive Spastic Paraplegia Type 11	Retinal degeneration, Abnormality of pattern visual evoked potentials, Orthostatic hypotension	ORPHA:2822
Combined Oxidative Phosphorylation Deficiency 10	Optic atrophy, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly, Hypoglycemia	OMIM:614702
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:617056
Pseudoxanthoma Elasticum	Retinal peau d'orange, Choroidal neovascularization, Angioid streaks of the fundus, Optic disc dr...	OMIM:264800
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Blindness	OMIM:617914
Hyperostosis Cranialis Interna	Optic atrophy, Facial palsy, Reduced visual acuity	OMIM:144755
Interstitial Nephritis, Karyomegalic	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:614817
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Hyperactivity, Attention deficit hyperactivity disorder, Patent foramen ovale	OMIM:617182
Cerebrotendinous Xanthomatosis	Optic atrophy, Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Optic ne...	ORPHA:909
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n...	OMIM:300539
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Optic atrophy, Delayed puberty, Optic nerve hypoplasia, Peripheral axonal neuropathy, Hypertrophi...	ORPHA:496790
Mitochondrial Complex I Deficiency, Nuclear Type 4	Brain atrophy, Blindness	OMIM:618225
Ectopia Lentis Et Pupillae	High myopia, Retinal detachment	OMIM:225200
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Cerebral Visual Impairment	Optic atrophy, Neonatal hypoglycemia, Optic nerve hypoplasia, Attention deficit hyperactivity dis...	ORPHA:447788
X-Linked Acrogigantism	Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased...	ORPHA:300373
Hyperlysinemia, Type I	Hyperactivity, Optic nerve hypoplasia	OMIM:238700
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Estrogen Resistance	Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Impaired glucose tole...	OMIM:615363
Hermansky-Pudlak Syndrome 4	Hypoplasia of the fovea, Reduced visual acuity, Ocular albinism	OMIM:614073
Leukodystrophy, Hypomyelinating, 12	Optic atrophy, Cerebellar atrophy, Cerebral visual impairment, Abnormal autonomic nervous system ...	OMIM:616683
5Q14.3 Microdeletion Syndrome	Optic nerve hypoplasia, Motor stereotypy	ORPHA:228384
Pseudoxanthoma Elasticum, Forme Fruste	Angioid streaks of the fundus, Macular degeneration, Retinal hemorrhage, Reduced visual acuity, M...	OMIM:177850
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Optic atrophy, Visual loss, Retinal dysplasia, Retinal dystrophy, Retinal detachment, Abnormality...	ORPHA:2526
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Obsessive-compulsive trait, Hyperactivity, Optic nerve hypoplasia, Inappropriate laughter, Tics, ...	ORPHA:363686
Alpers-Huttenlocher Syndrome	Abnormality of vision, Blindness	ORPHA:726
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Splenomegaly	ORPHA:66518
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Hyperactivity, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Aggressiv...	OMIM:252920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Retinal degeneration, Reduced visual acuity, Visual impairment	OMIM:615249
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Atrial septal defect, Perimembranous ventricular septal defect, Hypertrophic cardio...	OMIM:620135
Cardiomyopathy, Familial Hypertrophic, 27	Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:618052
Full Nf2-Related Schwannomatosis	Retinal hamartoma, Visual loss, Facial palsy, Abnormal optic nerve morphology, Remnants of the hy...	ORPHA:637
Insulin-Resistance Syndrome Type B	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased serum testosterone level, Fasting hypo...	ORPHA:2298
Bangstad Syndrome	Hyperinsulinemia, Hypothyroidism, Primary gonadal insufficiency, Abnormality of the parathyroid g...	ORPHA:1227
Axial Spondylometaphyseal Dysplasia	Optic atrophy, Photophobia, Dyschromatopsia, Retinal dystrophy, Peripheral retinal degeneration, ...	ORPHA:168549
Maternal Uniparental Disomy Of Chromosome 4	Optic atrophy, Visual field defect, Rod-cone dystrophy, Pigmentary retinopathy, Nyctalopia	ORPHA:96180
Immunoneurologic Disorder, X-Linked	Nyctalopia	OMIM:300076
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic atrophy, Pigmentary retinopathy, Reduced visual acuity, Visual impairment, Optic disc pallor	OMIM:617282
Short Stature, Dauber-Argente Type	Fasting hyperinsulinemia	OMIM:619489
Congenital Toxoplasmosis	Cardiomegaly, Microphthalmia, Abnormality of retinal pigmentation, Hepatomegaly	ORPHA:858
Joubert Syndrome 40	Optic nerve hypoplasia	OMIM:619582
Xfe Progeroid Syndrome	Visual impairment, Optic atrophy, Attenuation of retinal blood vessels, Blindness	OMIM:610965
Cockayne Syndrome A	Optic atrophy, Decreased nerve conduction velocity, Retinal atrophy, Abnormal auditory evoked pot...	OMIM:216400
Renal Tubular Acidosis, Distal, 1	Hypocalcemia, Elevated circulating creatinine concentration, Hypokalemia	OMIM:179800
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Aganglionic megacolon, Retinal dystrophy, Hyperautofluor...	OMIM:209900
Xq21 Microdeletion Syndrome	Abnormal chorioretinal morphology, Optic atrophy, Chorioretinal degeneration, Progressive night b...	ORPHA:1435
Galactokinase Deficiency	Hepatomegaly, Hyperinsulinemia, Hypergonadotropic hypogonadism, Hepatosplenomegaly, Hypoglycemia	ORPHA:79237
Osteopetrosis, Autosomal Recessive 5	Optic atrophy, Undetectable visual evoked potentials, Facial palsy, Optic disc pallor	OMIM:259720
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Hepatomegaly, Maternal diabetes, Ventricular septal defec...	ORPHA:860
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration	OMIM:616733
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Cerebral atrophy, Cerebral cortical atrophy, Blindness	OMIM:236270
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Rabson-Mendenhall Syndrome	Polydipsia, Atrial septal defect, Increased serum testosterone level, Fasting hypoglycemia, Enlar...	ORPHA:769
Hermansky-Pudlak Syndrome	Abnormality of visual evoked potentials, Abnormal optic nerve morphology, Ocular albinism	ORPHA:79430
Cardiofaciocutaneous Syndrome 4	Decreased response to growth hormone stimulation test, Ventricular septal hypertrophy, Abnormal a...	OMIM:615280
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly, Hypoketotic hypoglycemia	OMIM:600649
Congenital Generalized Lipodystrophy	Hyperinsulinemia, Hepatomegaly, Precocious puberty in females, Hypertrophic cardiomyopathy, Insul...	ORPHA:528
Osteopetrosis, Autosomal Recessive 9	Papilledema, Reduced visual acuity	OMIM:620366
Night Blindness, Congenital Stationary, Type 1A	Congenital stationary night blindness, High myopia, Hemeralopia	OMIM:310500
Pierson Syndrome	High myopia, Retinal detachment, Retinal hemorrhage, Remnants of the hyaloid vascular system, Mac...	OMIM:609049
Estrogen Resistance Syndrome	Absence of secondary sex characteristics, Hyperinsulinemia, Abnormal circulating hormone concentr...	ORPHA:785
White-Sutton Syndrome	Optic atrophy, Hypermetropia, Subcortical cerebral atrophy, Cerebellar atrophy, Blindness, Cerebr...	ORPHA:468678
X-Linked Immunoneurologic Disorder	Nyctalopia	ORPHA:2571
Usher Syndrome Type 2	Visual loss, Scotoma, Subcortical cerebral atrophy, Cerebral cortical atrophy, Hemianopia, Myopia...	ORPHA:231178
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Hypertrophic cardiomyopathy	OMIM:614096
Hermansky-Pudlak Syndrome 1	Photophobia, Severely reduced visual acuity, Blindness, Ocular albinism	OMIM:203300
Coach Syndrome 2	Elevated circulating creatinine concentration	OMIM:619111
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Blindness	OMIM:614514
Polymicrogyria With Optic Nerve Hypoplasia	Optic nerve hypoplasia	ORPHA:250972
Posterior Polymorphous Corneal Dystrophy	Photophobia, Chorioretinal degeneration, Very low visual acuity, Reduced visual acuity, Amblyopia...	ORPHA:98973
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic atrophy, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Retinal atrophy, My...	OMIM:236670
Autosomal Dominant Optic Atrophy And Cataract	Optic atrophy, Tritanomaly, Central scotoma, Red-green dyschromatopsia, Cerebellar atrophy, Reduc...	ORPHA:67036
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
X-Linked Intellectual Disability, Najm Type	Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma	ORPHA:163937
Cryptococcosis	Abnormal cranial nerve morphology, Abnormality of vision, Blindness, Abnormal optic nerve morphol...	ORPHA:1546
Renal Tubular Acidosis, Proximal	Elevated circulating creatinine concentration	OMIM:179830
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Situs inversus totalis, Optic nerve hypoplasia, Microphthalmia	OMIM:614833
Fanconi Renotubular Syndrome 3	Elevated circulating creatinine concentration, Aminoaciduria	OMIM:615605
Graves Disease	Increased circulating free T3, Decreased thyroid-stimulating hormone level, Hyperactivity, Polyph...	OMIM:275000
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomyopathy, Hypertrophic cardiomyopathy, Recurrent hypoglycemia, Impaired gluco...	OMIM:212140
Cockayne Syndrome B	Optic atrophy, Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Abnormal...	OMIM:133540
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Ventricular septal defect	OMIM:618652
Spinocerebellar Ataxia, Autosomal Recessive 3	Blindness	OMIM:271250
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Microphthalmia, Hyperinsulinemia,...	OMIM:620185
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Hypertrophic cardiomyopat...	ORPHA:71212
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Frequent temper tantrums, Impulsivity, Pulmonic stenosis, Motor stereotypy, Attent...	OMIM:620141
Hermansky-Pudlak Syndrome 8	Hypermetropia, High myopia, Moderate hypermetropia, Reduced visual acuity, Hypoplasia of the fove...	OMIM:614077
Non-24-Hour Sleep-Wake Syndrome	Blindness	ORPHA:73267
Joubert Syndrome 5	Rod-cone dystrophy, Congenital blindness, Reduced visual acuity, Retinal coloboma	OMIM:610188
Septo-Optic Dysplasia Spectrum	Polydipsia, Maternal diabetes, Diabetes insipidus, Optic nerve hypoplasia, Anterior pituitary hyp...	ORPHA:3157
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Hypoglycemia, Decreased circulating cortisol level	OMIM:618838
Fanconi Anemia, Complementation Group I	Microphthalmia, Decreased response to growth hormone stimulation test, Optic nerve hypoplasia, Pa...	OMIM:609053
Aniridia-Intellectual Disability Syndrome	Optic nerve hypoplasia, Aniridia	ORPHA:1068
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Optic nerve hypoplasia, Dysphagia, Motor stereotypy	ORPHA:572013
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Optic atrophy, Achromatopsia, Hypermetropia, Nonprogressive visual loss, Reduced visual acuity, M...	OMIM:614800
Sandhoff Disease	Orthostatic hypotension, Cherry red spot of the macula, Blindness	OMIM:268800
Albinism, Oculocutaneous, Type Ia	Photophobia, Hypoplasia of the fovea, Reduced visual acuity, Myopia, Visual impairment, Ocular al...	OMIM:203100
Hermansky-Pudlak Syndrome 7	Reduced visual acuity, Visual impairment, Ocular albinism	OMIM:614076
Gm1 Gangliosidosis	Optic atrophy, Cherry red spot of the macula, Abnormal retinal vascular morphology, Retinopathy o...	ORPHA:354
Musk, Inability To Smell	Blindness	OMIM:254150
C3 Glomerulopathy	Elevated circulating creatinine concentration	ORPHA:329918
Alpha-N-Acetylgalactosaminidase Deficiency	Cerebral cortical atrophy, Blindness	ORPHA:3137
Hermansky-Pudlak Syndrome 11	Hypoplasia of the fovea, Reduced visual acuity, Photophobia, Ocular albinism	OMIM:619172
Hemochromatosis, Type 1	Hepatomegaly, Glucose intolerance, Cardiomyopathy, Splenomegaly, Hypogonadotropic hypogonadism, C...	OMIM:235200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Optic atrophy, Undetectable electroretinogram, Retinal dysplasia, Retinal atrophy, Decreased ligh...	OMIM:253280
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Abnormality of visual evoked potentials, Facial palsy	ORPHA:258
Isolated Complex I Deficiency	Optic neuropathy, Optic disc pallor, Blindness	ORPHA:2609
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Multiple Endocrine Neoplasia Type 4	Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pulmonary carcinoid t...	ORPHA:276152
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Blindness	OMIM:618731
Momo Syndrome	Chorioretinal coloboma, Blindness	ORPHA:2563
Alstrom Syndrome	Constriction of peripheral visual field, Visual loss, Photophobia, Pigmentary retinopathy, Cone/c...	OMIM:203800
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Optic nerve hypoplasia	OMIM:618890
Abetalipoproteinemia	Color vision defect, Scotoma, Abnormality of retinal pigmentation, Hypopigmentation of the fundus...	ORPHA:14
Nabais Sa-De Vries Syndrome, Type 1	Optic nerve hypoplasia, Self-injurious behavior	OMIM:618828
Donohue Syndrome	Hyperinsulinemia, Fasting hypoglycemia, Precocious puberty, Hyperglycemia, Pancreatic islet-cell ...	OMIM:246200
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Blindness	OMIM:204850
Craniotelencephalic Dysplasia	Optic atrophy, Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Myopia 23, Autosomal Recessive	High myopia, Reduced visual acuity, Visual impairment	OMIM:615431
Sympathetic Ophthalmia	Photophobia, Retinal detachment, Vitreous floaters, Depigmented fundus, Retinal hemorrhage, Papil...	ORPHA:79098
Phace Association	Optic atrophy, Microphthalmia, Optic nerve hypoplasia, Congenital hypothyroidism, Increased retin...	OMIM:606519
Tatton-Brown-Rahman Syndrome	Optic nerve hypoplasia, Atrial septal defect, Ventricular septal defect	OMIM:615879
Attrv122I Amyloidosis	Cardiac amyloidosis, Restrictive cardiomyopathy, Abnormal autonomic nervous system physiology, Hy...	ORPHA:85451
Mulibrey Nanism	Hepatomegaly, Pericardial constriction, Myocardial fibrosis, Cardiomegaly, Pigmentary retinopathy	OMIM:253250
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine	ORPHA:54057
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Reduced visual acuity, Macular hypoplasia	ORPHA:2334
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly	OMIM:300886
Tay-Sachs Disease	Optic atrophy, Global brain atrophy, Cerebellar atrophy, Blindness, Cherry red spot of the macula...	ORPHA:845
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Oculocutaneous Albinism Type 2	Optic nerve misrouting, Macular hypopigmentation, Photophobia, Abnormality of retinal pigmentatio...	ORPHA:79432
Metachromatic Leukodystrophy	Abnormality of visual evoked potentials, Decreased nerve conduction velocity	ORPHA:512
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Constriction of peripheral visual field, Optic disc pallor, Reduced visual acuity, Photophobia	OMIM:618527
Congenital Primary Aphakia	Retinal detachment, Optic disc coloboma, Abnormality of vision, Retinal dysplasia	ORPHA:83461
Familial Atrial Myxoma	Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma	ORPHA:615
Mitochondrial Complex I Deficiency, Nuclear Type 1	Undetectable visual evoked potentials, Optic disc pallor, Optic neuropathy	OMIM:252010
Verheij Syndrome	Optic nerve hypoplasia, Truncus arteriosus, Ventricular septal defect	OMIM:615583
Hypouricemia, Renal, 1	Hypouricemia, Elevated circulating creatinine concentration	OMIM:220150
Mpi-Cdg	Hypothyroidism, Hyperinsulinemic hypoglycemia, Hepatomegaly	ORPHA:79319
Hydranencephaly	Cerebral cortical atrophy, Optic nerve hypoplasia, Chorioretinal atrophy, Blindness	ORPHA:2177
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Le...	OMIM:300280
Papillorenal Syndrome	High myopia, Macular degeneration, Chorioretinal atrophy, Retinal detachment, Retinal coloboma, R...	OMIM:120330
Timothy Syndrome	Patent foramen ovale, Hypothyroidism, Tetralogy of Fallot, Cardiomegaly, Hypoglycemia, Ventricula...	OMIM:601005
Infantile Sialic Acid Storage Disease	Cardiomegaly, Hepatomegaly, Splenomegaly	OMIM:269920
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Elevated circulating creatinine concentration	OMIM:608104
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Reduced visual acuity	OMIM:604229
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Reduced visual acuity, Optic disc pallor	OMIM:614195
Pineoblastoma	Retinoblastoma, Amaurosis fugax, Papilledema, Reduced visual acuity, Progressive visual field def...	ORPHA:251909
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Cerebral atrophy, Blindness	OMIM:250940
Pyruvate Dehydrogenase E1-Alpha Deficiency	Cerebral atrophy, Blindness	ORPHA:79243
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Optic atrophy, Exudative retinopathy, Retinal telangiectasia, Blindness	OMIM:612199
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612924
Asparagine Synthetase Deficiency	Global brain atrophy, Optic nerve hypoplasia, Cerebral visual impairment, Blindness, Caudate atrophy	OMIM:615574
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration	OMIM:620138
Autosomal Recessive Spastic Paraplegia Type 55	Optic atrophy, Decreased sensory nerve conduction velocity, Reduced visual acuity, Optic neuropathy	ORPHA:320375
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Optic atrophy, Aganglionic megacolon, Cerebral cortical atrophy, Myopia, Blindness	ORPHA:847
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612926
Intellectual Developmental Disorder, Autosomal Dominant 45	Neonatal hypoglycemia, Hyperactivity, Recurrent hand flapping, Pulmonic stenosis, Motor stereotyp...	OMIM:617600
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Retinal thinning, Progressive visual loss, Abnormality of macular pigmentation, Retinal atrophy, ...	OMIM:608940
Hermansky-Pudlak Syndrome 5	Hypoplasia of the fovea, Reduced visual acuity, Ocular albinism	OMIM:614074
Autosomal Recessive Malignant Osteopetrosis	Abnormality of visual evoked potentials, Optic nerve compression	ORPHA:667
Dysosteosclerosis	Optic atrophy, Facial paralysis, Blindness	OMIM:224300
Myopathy, Tubular Aggregate, 1	Nyctalopia	OMIM:160565
Congenital Bile Acid Synthesis Defect Type 1	Nyctalopia	ORPHA:79301
Mucopolysaccharidosis Type 3	Constriction of peripheral visual field, Optic atrophy, Blindness, Central nervous system degener...	ORPHA:581
Nephronophthisis 2	Hyperkalemia, Elevated circulating creatinine concentration	OMIM:602088
Osteoporosis-Pseudoglioma Syndrome	Retinal calcification, Vitreoretinopathy, Exudative retinopathy, Congenital blindness, Blindness	OMIM:259770
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Abnormal temper tantrums, Hyperactivity, Recurrent hand flapping, Hypothyroidism, Hyperthyroidism...	ORPHA:449291
Congenital Microcoria	Photophobia, Hemeralopia, Axial myopia, Blurred vision, Visual impairment, Blindness, Nyctalopia	ORPHA:566
Fixed Subaortic Stenosis	Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ...	ORPHA:3092
Herpes Simplex Virus Stromal Keratitis	Reduced visual acuity, Blindness, Blurred vision	ORPHA:137599
Bresek Syndrome	Optic nerve hypoplasia, Microphthalmia, Aganglionic megacolon	ORPHA:85284
Neuraminidase Deficiency	Hepatomegaly, Cardiomyopathy, Splenomegaly, Cherry red spot of the macula, Cardiomegaly	OMIM:256550
Adrenoleukodystrophy	Neurodegeneration, Visual loss, Blindness	OMIM:300100
Ophthalmomandibulomelic Dysplasia	Blindness	ORPHA:2741
Acquired Generalized Lipodystrophy	Hepatomegaly, Hyperinsulinemia, Cardiomyopathy, Insulin resistance, Insulin-resistant diabetes me...	ORPHA:79086
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Optic nerve dysplasia, Cerebral atrophy, Reduced visual acuity, Hypermetropia	OMIM:617296
Fg Syndrome Type 1	Small pituitary gland, Optic nerve hypoplasia, Compulsive behaviors, Mitral valve prolapse, Atten...	ORPHA:93932
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Hepatomegaly, Optic nerve hypoplasia, Pulmonic stenosis, Double outlet right ventricle, Ventricul...	OMIM:301056
Intellectual Developmental Disorder, Autosomal Dominant 70	Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia	OMIM:620157
Relapsing Fever	Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-...	ORPHA:91547
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612925
Lipodystrophy, Congenital Generalized, Type 4	Hyperinsulinemia, Hepatomegaly, Splenomegaly, Dysphagia, Insulin resistance	OMIM:613327
D-Glyceric Aciduria	Optic nerve hypoplasia, Hypoglycemia, Tongue thrusting	OMIM:220120
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Hepatomegaly	OMIM:619064
Aniridia 1	Aniridia, Optic nerve hypoplasia, Hypoplasia of the iris, Chorioretinal hypopigmentation, Increas...	OMIM:106210
Polyendocrine-Polyneuropathy Syndrome	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	ORPHA:453533
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Mandibuloacral Dysplasia	Insulin resistance, Hyperinsulinemia, Glucose intolerance, Insulin-resistant diabetes mellitus	ORPHA:2457
Gm1 Gangliosidosis Type 1	Diffuse cerebral atrophy, Cherry red spot of the macula, Blindness	ORPHA:79255
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Optic nerve hypoplasia	OMIM:618736
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Aggressive behavior, Elevated circulating growth hormone concentration, Decreased ...	ORPHA:85327
Squalene Synthase Deficiency	Bicuspid aortic valve, Optic nerve hypoplasia	OMIM:618156
Hyper-Igd Syndrome	Rod-cone dystrophy, Optic disc pallor, Nyctalopia	OMIM:260920
Lissencephaly Due To Tuba1A Mutation	Optic nerve hypoplasia, Aganglionic megacolon	ORPHA:171680
Spastic Paraplegia 54, Autosomal Recessive	Optic nerve hypoplasia, Dysphagia	OMIM:615033
Proprotein Convertase 1/3 Deficiency	Hypoinsulinemia, Elevated circulating proinsulin concentration, Decreased circulating cortisol le...	OMIM:600955
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating long chain fatty acid concentration, Elevated circulating creatine kinase co...	OMIM:608836
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp...	OMIM:115197
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated circulating alpha-fetoprotein concentration, Elevated circulating creatinine concentrati...	OMIM:613095
Trichothiodystrophy 5, Nonphotosensitive	Optic nerve hypoplasia, Panhypopituitarism, Retinal dystrophy	OMIM:300953
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Optic nerve hypoplasia	OMIM:618381
Preeclampsia	Elevated circulating creatinine concentration	ORPHA:275555
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia, Bilateral microphthalmos	OMIM:607597
Microphthalmia With Linear Skin Defects Syndrome	Abnormal vitreous humor morphology, Visual loss, Retinal dysplasia, Retinal dystrophy, Vitritis, ...	ORPHA:2556
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperinsulinemia, Hyperglycemia, Glucose intolerance, Insulin-resistant diabetes mellitus	OMIM:608612
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Myopia, Retinal detachment, Blindness	OMIM:225400
Chromosome 2P16.1-P15 Deletion Syndrome	Attention deficit hyperactivity disorder, Optic nerve hypoplasia, Hypogonadism	OMIM:612513
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Elevated circulating creatinine concentration	OMIM:614376
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased response to growth hormone stimulation test, Decreased thyroid-stimulating hormone leve...	ORPHA:226307
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Optic nerve dysplasia, Blindness, Retinal dysplasia	OMIM:615287
Prader-Willi Syndrome	Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Polypha...	OMIM:176270
Ophthalmomandibulomelic Dysplasia	Blindness	OMIM:164900
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Cardiomegaly, Hypoglycemia, Hepatomegaly	ORPHA:42
Pituitary Stalk Interruption Syndrome	Delayed puberty, Diabetes insipidus, Adrenal hypoplasia, Septo-optic dysplasia, Abnormality of th...	ORPHA:95496
2P15P16.1 Microdeletion Syndrome	Optic atrophy, Optic nerve hypoplasia, Facial palsy, Dysphagia, Hypogonadism, Attention deficit h...	ORPHA:261349
Microphthalmia, Syndromic 5	Microphthalmia, Retinal dystrophy, Anophthalmia, Optic nerve hypoplasia, Ectopic posterior pituitary	OMIM:610125
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Constriction of peripheral visual field, Perifoveal ring of hyperautofluorescence, Reduced visual...	OMIM:240300
Arima Syndrome	Optic atrophy, Retinal dystrophy, Chorioretinal coloboma, Blindness	OMIM:243910
Lipodystrophy, Congenital Generalized, Type 2	Hyperinsulinemia, Ventricular septal hypertrophy, Hepatomegaly, Decreased serum leptin, Polyphagi...	OMIM:269700
16Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Dilated cardiomyopathy, Ventricular septal defect, Dysphagia	ORPHA:261250
Fuchs Endothelial Corneal Dystrophy	Visual loss, Reduced visual acuity, Nyctalopia	ORPHA:98974
Beck-Fahrner Syndrome	Attention deficit hyperactivity disorder, Ventricular septal defect, Cardiomegaly	OMIM:618798
Rhizomelic Chondrodysplasia Punctata, Type 2	Optic nerve hypoplasia, Tetralogy of Fallot	OMIM:222765
Coronary Arterial Fistula	Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st...	ORPHA:2041
Lipodystrophy, Congenital Generalized, Type 1	Hyperinsulinemia, Hepatomegaly, Decreased serum leptin, Cardiomyopathy, Polyphagia, Splenomegaly,...	OMIM:608594
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration	ORPHA:90060
Congenital Disorder Of Glycosylation, Type Ib	Hyperinsulinemic hypoglycemia, Hepatomegaly	OMIM:602579
Lipodystrophy, Familial Partial, Type 2	Hyperinsulinemia, Hepatomegaly, Enlarged peripheral nerve, Hyperglycemia, Type II diabetes mellit...	OMIM:151660
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hyperbilirubinemia, Elevated circulating creatinine concentration	ORPHA:542323
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cardiomyopathy, Testicular atrophy, Hypothyroidism, Hyperglycemia, Splenomegaly, Ca...	ORPHA:465508
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle	OMIM:239850
Mucopolysaccharidosis Type 2	Large central visual field defect, Optic atrophy, Decreased nerve conduction velocity, Retinopath...	ORPHA:580
Pancreatic And Cerebellar Agenesis	Optic nerve hypoplasia, Secundum atrial septal defect, Hyperglycemia, Hypoglycemia, Diabetes mell...	OMIM:609069
Cystinosis, Nephropathic	Cerebral atrophy, Photophobia, Blindness, Pigmentary retinopathy, Retinopathy, Reduced visual acu...	OMIM:219800
19P13.13 Microdeletion Syndrome	Optic atrophy, Optic nerve hypoplasia, Attention deficit hyperactivity disorder	ORPHA:357001
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration	ORPHA:79126
Aica-Ribosiduria	Congenital blindness	ORPHA:250977
Gm2-Gangliosidosis, Ab Variant	Cerebral atrophy, Neurodegeneration, Blindness	OMIM:272750
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia	OMIM:235400
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia	OMIM:618885
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hypoglycemia, Hyperinsulinemia, Orthostatic hypotension	ORPHA:230
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Hepatomegaly, Cardiomegaly, Hypertrophic cardiomyopathy	OMIM:201475
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Abnormality of visual evoked potentials	OMIM:203700
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Cerebellar cortical atrophy, Retinal dystrophy, Optic nerve hypoplasia, Nyctalopia	OMIM:619321
Non-Functioning Pituitary Adenoma	Progressive visual loss, Bitemporal hemianopia, Hemianopia, Heteronymous hemianopia, Sudden loss ...	ORPHA:91349
Cerebrooculonasal Syndrome	Blindness	ORPHA:66625
Charcot-Marie-Tooth Disease Type 1F	Decreased nerve conduction velocity, Optic nerve hypoplasia, Absent brainstem auditory responses,...	ORPHA:101085
Developmental Malformations-Deafness-Dystonia Syndrome	Blindness	ORPHA:79107
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Perimembranous ventricular septal defect, Atrioventricular canal defect, Optic ne...	ORPHA:508498
Phace Syndrome	Microphthalmia, Retinal vascular malformation, Optic nerve hypoplasia, Hypothyroidism, Abnormal h...	ORPHA:42775
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Nyctalopia	OMIM:277350
46,Xy Sex Reversal 4	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:154230
Aorta Coarctation	Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m...	ORPHA:1457
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,...	ORPHA:439
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiomyopathy, Hypothyroidism, Left ventricular hypertrophy, Cardiomegaly	OMIM:617713
Leprechaunism	Enlarged kidney, Hyperinsulinemia, Hepatomegaly, Fasting hypoglycemia, Hypertrophic cardiomyopath...	ORPHA:508
Prolactinoma	Sudden loss of visual acuity, Bitemporal hemianopia, Hemianopia, Heteronymous hemianopia, Progres...	ORPHA:2965
Cirrhotic Cardiomyopathy	Left atrial enlargement, Hepatomegaly, Right atrial enlargement, Addictive alcohol use, Left vent...	ORPHA:57777
Meningioma	Bitemporal hemianopia, Slow decrease in visual acuity, Facial palsy, Visual acuity test abnormali...	ORPHA:2495
Thrombotic Thrombocytopenic Purpura, Hereditary	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:274150
Rift Valley Fever	Scotoma, Photophobia, Retinal hemorrhage, Retinal vasculitis, Reduced visual acuity, Macular edem...	ORPHA:319251
Mucopolysaccharidosis Type 2, Severe Form	Optic atrophy, Retinopathy, Peripheral visual field loss, Abnormal foveal morphology, Papilledema...	ORPHA:217085
Brachytelephalangic Chondrodysplasia Punctata	Optic nerve hypoplasia, Atrial septal defect, Ventricular septal defect, Optic disc hypoplasia	ORPHA:79345
Rodrigues Blindness	Blindness	OMIM:268320
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Optic nerve hypoplasia, Abnormal autonomic nervous system physiology, Motor stereotypy	ORPHA:300570
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Constriction of peripheral visual field, Macular atrophy, Nyctalopia	OMIM:619418
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Abnormal atrioventricular valve morphology, Cardiomegaly, Mitral valve pro...	ORPHA:324410
Mucopolysaccharidosis Type 2, Attenuated Form	Optic atrophy, Retinopathy, Peripheral visual field loss, Abnormal foveal morphology, Papilledema...	ORPHA:217093
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Blindness	OMIM:603387
Aapoaiv Amyloidosis	Elevated circulating creatinine concentration, Hyperlipidemia	ORPHA:439232
Amyloidosis, Hereditary, Transthyretin-Related	Peripheral axonal neuropathy, Cardiomyopathy, Abnormal autonomic nervous system physiology, Ortho...	OMIM:105210
Ectodermal Dysplasia-Blindness Syndrome	Abnormality of vision, Blindness	ORPHA:1806
Steinert Myotonic Dystrophy	Non-medullary thyroid carcinoma, Obsessive-compulsive trait, Abnormality of thyroid physiology, H...	ORPHA:273
Stickler Syndrome	Abnormal vitreous humor morphology, Retinal detachment, Lattice retinal degeneration, Visual impa...	ORPHA:828
Atypical Werner Syndrome	Delayed puberty, Neoplasm of the thyroid gland, Hyperinsulinemia, Fasting hyperinsulinemia, Aorti...	ORPHA:79474
Hyperthyroidism, Nonautoimmune	Increased circulating T4 concentration, Increased circulating free T3, Decreased thyroid-stimulat...	OMIM:609152
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:223900
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Elevated circulating creatinine concentration, Decreased...	ORPHA:85450
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hepatomegaly, Hyperinsulinemia, Impaired glucose tolerance, Hyperglycemia, Insulin-resistant diab...	OMIM:248370
Carnitine Palmitoyltransferase I Deficiency	Cardiomegaly, Hepatomegaly, Hypoketotic hypoglycemia	OMIM:255120
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Cardiomegaly, Ventricular septal defect, Hypertrophic cardiomyopathy	OMIM:616897
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr...	OMIM:306955
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Optic atrophy, Cardiomyopathy, Cardiomegaly	OMIM:619259
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Attention deficit hyperactivity disorder, Optic nerve hypoplasia, Dysphagia	OMIM:620029
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at...	OMIM:620642
Juvenile Nephropathic Cystinosis	Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Hypophosphatemia, Hypocalcemic tetany, Ele...	ORPHA:411634
Norrie Disease	Abnormal chorioretinal morphology, Optic atrophy, Abnormal vitreous humor morphology, Retinal det...	ORPHA:649
Behçet Disease	Photophobia, Optic neuritis, Retinopathy, Retrobulbar optic neuritis, Blindness	ORPHA:117
Igg4-Related Dacryoadenitis And Sialadenitis	Abnormal optic nerve morphology, Optic nerve compression, Blindness	ORPHA:79078
Rabin-Pappas Syndrome	Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia	OMIM:620155
Bacterial Toxic-Shock Syndrome	Hypocalcemia, Hypoalbuminemia, Elevated circulating creatinine concentration, Elevated circulatin...	ORPHA:36234
Idiopathic Pulmonary Hemosiderosis	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly	ORPHA:99931
Holoprosencephaly 13, X-Linked	Optic nerve hypoplasia, Patent foramen ovale, Septo-optic dysplasia, Double outlet right ventricl...	OMIM:301043
Primary Hyperoxaluria	Optic atrophy, Choroidal neovascularization, Retinopathy, Reduced visual acuity, Optic disc pallor	ORPHA:416
X-Linked Cerebral Adrenoleukodystrophy	Global brain atrophy, Reduced visual acuity, Blindness	ORPHA:139396
Congenital Disorder Of Glycosylation, Type It	Delayed puberty, Hepatomegaly, Decreased serum insulin-like growth factor 1, Cardiomegaly, Hypogl...	OMIM:614921
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:174000
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Optic nerve hypoplasia, Optic disc pallor, Retinal coloboma	OMIM:300749
Retinoblastoma	Retinoblastoma, Retinal calcification, Subretinal pigment epithelium hemorrhage, Abnormality of r...	ORPHA:790
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati...	OMIM:231005
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Optic nerve hypoplasia, Patent foramen ovale, Hypertrophic cardiomyopathy, Pulmonic stenosis, Atr...	OMIM:617506
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Optic nerve hypoplasia, Ventricular septal defect, Abnormal optic nerve morphology, Hypothyroidis...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Optic nerve hypoplasia, Ventricular septal defect, Abnormal optic nerve morphology, Hypothyroidis...	ORPHA:352665
Hermansky-Pudlak Syndrome 6	Photophobia, Reduced visual acuity, Absent foveal reflex, Amblyopia, Macular hypoplasia, Ocular a...	OMIM:614075
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Elevated circulating creatinine concentration	ORPHA:247691
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Brachial plexus neuropathy, Dysphagia, Right ventricular hypertrophy	ORPHA:268
Combined Pituitary Hormone Deficiencies, Genetic Forms	Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s...	ORPHA:95494
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Remnants of the hy...	OMIM:614643
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Optic nerve hypoplasia	OMIM:617864
Craniofaciofrontodigital Syndrome	Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus...	ORPHA:363705
Dpagt1-Cdg	Optic atrophy, Global brain atrophy, Diffuse optic disc pallor, Cerebral cortical atrophy, Rod-co...	ORPHA:86309
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Elevated circulating creatinine concentration, Reduced haptoglobin level	OMIM:301110
Mccune-Albright Syndrome	Blindness	OMIM:174800
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Axenfeld-Rieger Syndrome, Type 2	Blindness	OMIM:601499
Dermatoosteolysis, Kirghizian Type	Nyctalopia	ORPHA:1657
Fucosidosis	Hypothyroidism, Hepatomegaly, Cardiomegaly	ORPHA:349
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormal heart valve morphology, Optic nerve hypoplasia, Pulmonic stenosis, Aortic valve stenosis...	ORPHA:536471
Fetal And Neonatal Alloimmune Thrombocytopenia	Blindness	ORPHA:853
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Optic nerve hypoplasia, Cerebral visual impairment, Blindness, Neurodegeneration, Visual impairment	OMIM:620455
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Optic nerve hypoplasia, Attenuation of retinal blood vessels, Motor ste...	ORPHA:468631
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Right atrial enlargement	OMIM:614473
Senior-Loken Syndrome 1	Elevated circulating creatinine concentration	OMIM:266900
Bardet-Biedl Syndrome	Color vision defect, Aganglionic megacolon, Photophobia, Retinal dystrophy, Cone/cone-rod dystrop...	ORPHA:110
8Q24.3 Microdeletion Syndrome	Bilateral microphthalmos, Atrioventricular canal defect, Hyperactivity, Optic nerve hypoplasia, T...	ORPHA:508488
Glycogen Storage Disease Of Heart, Lethal Congenital	Neonatal hypoglycemia, Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial ...	OMIM:261740
Woodhouse-Sakati Syndrome	Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Decreas...	ORPHA:3464
Complete Atrioventricular Septal Defect	Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul...	ORPHA:1329
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hair-pulling, Nail-biting, Optic nerve hypoplasia, Polyphagia, Fixated interests, Motor stereotyp...	OMIM:620330
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypermetropia, Cerebellar atrophy, Retinal hemorrhage, Visual field defect, Peripapillary atrophy...	OMIM:175780
Turner Syndrome Due To Structural X Chromosome Anomalies	Delayed puberty, Bicuspid aortic valve, Atrial septal defect, Hyperinsulinemia, Thyroiditis, Hash...	ORPHA:99413
Mosaic Monosomy X	Delayed puberty, Bicuspid aortic valve, Atrial septal defect, Hyperinsulinemia, Thyroiditis, Hash...	ORPHA:99228
Monosomy X	Delayed puberty, Bicuspid aortic valve, Atrial septal defect, Hyperinsulinemia, Thyroiditis, Hash...	ORPHA:99226
Turner Syndrome	Delayed puberty, Bicuspid aortic valve, Atrial septal defect, Hyperinsulinemia, Thyroiditis, Hash...	ORPHA:881
Histiocytosis-Lymphadenopathy Plus Syndrome	Atrial septal defect, Decreased response to growth hormone stimulation test, Hepatomegaly, Hyperg...	OMIM:602782
Igg4-Related Retroperitoneal Fibrosis	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Elevated circulatin...	ORPHA:49041
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Danon Disease	Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card...	OMIM:300257
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Elevated circulating creatinine concentration, Hypokalemia, Unconjugated hyperbilir...	ORPHA:90038
Familial Gestational Hyperthyroidism	Agitation, Hyperactivity, Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Goiter, Activating...	ORPHA:99819
Amoebiasis Due To Free-Living Amoebae	Visual loss, Photophobia, Facial palsy, Blindness, Diplopia	ORPHA:68
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Photophobia, Blindness	OMIM:148210
Senior-Loken Syndrome 3	Congenital blindness, Visual loss	OMIM:606995
Sickle Cell Disease	Retinopathy, Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:603903
Craniosynostosis 4	Optic nerve hypoplasia, Ectopic posterior pituitary	OMIM:600775
Marshall-Smith Syndrome	Optic nerve hypoplasia, Atrial septal defect, Ventricular septal defect, Dysplastic aortic valve	OMIM:602535
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Dysphagia, Cardiomegaly	OMIM:608013
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus	OMIM:617022
Naxos Disease	Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h...	OMIM:601214
Multiple Myeloma	Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia	ORPHA:29073
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Agitation, Hyperactivity, Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Goiter, Activating...	ORPHA:424
Histiocytoid Cardiomyopathy	Optic atrophy, Microphthalmia, Hepatomegaly, Congenital aphakia, Cardiomegaly, Hypoglycemia, Vent...	ORPHA:137675
Mucoepithelial Dysplasia, Hereditary	Photophobia, Blindness	OMIM:158310
Tsh-Secreting Pituitary Adenoma	Progressive visual loss, Bitemporal hemianopia, Hemianopia, Abnormal visual field test, Heteronym...	ORPHA:91347
Double Outlet Left Ventricle	Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv...	ORPHA:3427
Oligomeganephronia	Elevated circulating creatinine concentration	ORPHA:2260
Stromme Syndrome	Optic nerve hypoplasia, Microphthalmia, Retinal vascular tortuosity	OMIM:243605
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Delayed puberty, Patent foramen ovale, Ventricular septal defect, Impulsivity, Left ventricular n...	OMIM:300967
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Hypoketotic hypoglycemia, Cardiomyopathy, Abnormal myocardium morphology, Cardiomegaly	ORPHA:228308
Webb-Dattani Syndrome	Blindness	OMIM:615926
Developmental And Epileptic Encephalopathy 95	Cardiomegaly, Inappropriate laughter, Hepatomegaly	OMIM:618143
Pseudo-Torch Syndrome 3	Cardiomegaly	OMIM:618886
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Optic nerve hypoplasia	ORPHA:221139
Autosomal Dominant Polycystic Kidney Disease	Elevated circulating creatinine concentration	ORPHA:730
Plasminogen Deficiency, Type I	Blindness	OMIM:217090
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Attention deficit hyperactivity disorder, Optic nerve hypoplasia, Aggressive behavior, Decreased ...	ORPHA:495875
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Patent foramen ovale, Mitral valve prolapse, Left ventricular hypertrophy,...	OMIM:245600
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy	ORPHA:1517
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Visual loss, Amblyopia, Blindness	ORPHA:2250
Weill-Marchesani Syndrome 1	High myopia, Blindness	OMIM:277600
Sickle Cell Anemia	Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia	ORPHA:232
Aprosencephaly And Cerebellar Dysgenesis	Retinal dysplasia	OMIM:601374
Cogan Syndrome	Blindness, Reduced visual acuity, Photophobia	ORPHA:1467
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hyperactivity, Optic nerve hypoplasia	ORPHA:457284
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort...	OMIM:620066
Congenital Fibrosis Of Extraocular Muscles	Optic nerve hypoplasia, Hypogonadotropic hypogonadism	ORPHA:45358
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration	OMIM:617478
Microphthalmia, Syndromic 6	Myopia, Retinal dystrophy, Cerebral cortical atrophy, Blindness	OMIM:607932
Hypomagnesemia 3, Renal	Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentration, Hyperuric...	OMIM:248250
Saul-Wilson Syndrome	Nyctalopia	OMIM:618150
Corneodermatoosseous Syndrome	Hemeralopia, Photophobia, Nyctalopia	ORPHA:3194
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	ORPHA:308552
Cardiogenic Shock	Elevated circulating creatinine concentration	ORPHA:97292
Mucopolysaccharidosis, Type Iiid	Cerebellar atrophy, Visual impairment, Nyctalopia	OMIM:252940
Truncus Arteriosus	Adrenocortical abnormality, Transposition of the great arteries, Abnormal heart valve morphology,...	ORPHA:3384
Diaphragmatic Hernia 4, With Cardiovascular Defects	Optic nerve hypoplasia, Aortopulmonary window, Ventricular septal defect, Hepatomegaly	OMIM:620025
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy	ORPHA:158687
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, Abnormal thymus morphology	ORPHA:2463
Liver Disease, Severe Congenital	Left atrial enlargement, Hepatomegaly, Patent foramen ovale, Abnormal circulating thyroid hormone...	OMIM:619991
Proboscis Lateralis	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Chorioretinal coloboma, Optic disc coloboma...	ORPHA:141099
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia	ORPHA:340
Marburg Hemorrhagic Fever	Hypokalemia, Hyperamylasemia, Elevated circulating creatine kinase concentration, Hyperammonemia,...	ORPHA:99826
Cerebrooculonasal Syndrome	Optic nerve hypoplasia, Anophthalmia	OMIM:605627
Weill-Marchesani Syndrome 2	High myopia, Blindness	OMIM:608328
Fucosidosis	Cardiomegaly, Splenomegaly, Hepatomegaly, Cherry red spot of the macula	OMIM:230000
Interatrial Communication	Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a...	ORPHA:1478
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly	OMIM:620306
Solitary Fibrous Tumor	Hypoglycemia, Hypoinsulinemia, Recurrent hypoglycemia	ORPHA:2126
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio...	ORPHA:95430
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy	OMIM:208000
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Precocious puberty, Cardiomegaly, Ventricular septal defect, Neonatal insulin-depen...	ORPHA:96191
Beckwith-Wiedemann Syndrome	Neonatal hypoglycemia, Enlarged kidney, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Pancreatic hy...	OMIM:130650
Absence Of The Pulmonary Artery	Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom...	ORPHA:980
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Microphthalmia, Septo-optic dysplasia	ORPHA:3301
Renal Cysts And Diabetes Syndrome	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:137920
Bohring-Opitz Syndrome	Optic atrophy, Retinal atrophy, Cardiomegaly, Abnormal cardiac septum morphology	ORPHA:97297
Ogden Syndrome	Left atrial enlargement, Perimembranous ventricular septal defect, Enlarged kidney, Maternal diab...	OMIM:300855
Leprosy	Abnormal seventh cranial physiology, Abnormal autonomic nervous system physiology, Blindness	ORPHA:548
17Q11 Microdeletion Syndrome	Retinal vascular proliferation, Abnormal choroid morphology, Progressive visual loss, Blindness	ORPHA:97685
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Retinal arterial tortuosity, Cardiomegaly, Retinal detachment, Patent foramen ovale, Retinal hemo...	OMIM:620371
Pauci-Immune Glomerulonephritis	Elevated circulating creatinine concentration	ORPHA:93126
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Dysphagia, Left ventricular hypertrophy, Cardiomegaly,...	ORPHA:365
Igg4-Related Kidney Disease	Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Elevated ...	ORPHA:449395
Tenorio Syndrome	Hypoglycemia, Hypoinsulinemia	OMIM:616260
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Optic atrophy, Optic nerve hypoplasia, Abnormal heart morphology, Dysphagia, Atrial septal defect	ORPHA:500150
Glycogen Storage Disease Ii	Cardiomegaly, Hepatomegaly, Splenomegaly	OMIM:232300
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly	OMIM:252500
Alström Syndrome	Precocious puberty in females, Primary hypothyroidism, Splenomegaly, Decreased circulating T4 con...	ORPHA:64
Rhombencephalosynapsis	Aganglionic megacolon, Septo-optic dysplasia	ORPHA:59315
Holoprosencephaly 9	Microphthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary agenesi...	OMIM:610829
Acromelic Frontonasal Dysostosis	Hypopituitarism, Optic nerve hypoplasia, Remnants of the hyaloid vascular system	OMIM:603671
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ...	ORPHA:1677
Beckwith-Wiedemann Syndrome	Neonatal hypoglycemia, Enlarged kidney, Hepatomegaly, Cardiomegaly, Visceromegaly, Hypertrophic c...	ORPHA:116
Renpenning Syndrome 1	Cerebral atrophy, Blindness, Hypermetropia	OMIM:309500
Baller-Gerold Syndrome	Optic atrophy, Optic nerve hypoplasia, Abnormal heart morphology	OMIM:218600
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Cardiomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly	OMIM:618278
Williams Syndrome	Abnormal endocardium morphology, Bicuspid aortic valve, Atrial septal defect, Cardiomegaly, Compu...	ORPHA:904
Aicardi-Goutières Syndrome	Hypertrophic cardiomyopathy, Hypothyroidism, Hepatosplenomegaly, Cardiomegaly, Diabetes mellitus	ORPHA:51
Yellow Fever	Hyperbilirubinemia, Elevated circulating creatinine concentration, Elevated circulating creatine ...	ORPHA:99829
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Hepatoerythropoietic Porphyria	Blindness	ORPHA:95159
Tubulointerstitial Nephritis And Uveitis Syndrome	Elevated circulating creatinine concentration, Aminoaciduria, Elevated circulating C-reactive pro...	ORPHA:91500
Microphthalmia, Syndromic 1	Aganglionic megacolon, Optic disc coloboma, Chorioretinal coloboma, Blindness	OMIM:309800
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Elevated circulating creatini...	OMIM:619534
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Impaired glucose to...	OMIM:256040
Fraser Syndrome 1	Blindness	OMIM:219000
Yunis-Varon Syndrome	Bilateral microphthalmos, Microphthalmia, Cardiomyopathy, Tetralogy of Fallot, Cardiomegaly, Atri...	ORPHA:3472
Pmm2-Cdg	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Photoreceptor l...	ORPHA:79318
Congenital Erythropoietic Porphyria	Blindness	ORPHA:79277
Tropical Endomyocardial Fibrosis	Left atrial enlargement, Endocardial fibrosis, Right ventricular cardiomyopathy, Hepatomegaly, Re...	ORPHA:75565
Sarcoidosis	Facial palsy, Blindness	ORPHA:797
Autoinflammatory Disease, Systemic, With Vasculitis	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Splenomegaly	OMIM:620376
Chilton-Okur-Chung Neurodevelopmental Syndrome	Anterior pituitary hypoplasia, Patent foramen ovale, Septo-optic dysplasia, Attention deficit hyp...	OMIM:619841
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Photophobia, Visual loss, Blindness	ORPHA:95455
Menke-Hennekam Syndrome 1	Blindness, Hypermetropia	OMIM:618332
Generalized Arterial Calcification Of Infancy	Angioid streaks of the fundus, Choroidal neovascularization, Ventricular hypertrophy, Retinal hem...	ORPHA:51608
Fraser Syndrome	Blindness	ORPHA:2052
Leukocyte Adhesion Deficiency	Hyperinsulinemic hypoglycemia	ORPHA:2968
Singleton-Merten Syndrome 1	Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv...	OMIM:182250

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.

Phenotype	Allele	Zygosity	Life Stage
Eye - MPATH pathological process term atrophy	Cacna1f^{tm1.1(KOMP)Vlcg}	HOM	Early adult
Eye - MPATH pathological process term dysplasia	Cacna1f^{tm1.1(KOMP)Vlcg}	HOM	Early adult
Eye - MPATH pathological process term dysplasia	Cacna1f^{tm1.1(KOMP)Vlcg}	HEM	Early adult
Eye - MPATH pathological process term atrophy	Cacna1f^{tm1.1(KOMP)Vlcg}	HEM	Early adult

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 Cacna1f.

No publications found that use IMPC mice or data for Cacna1f.

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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
Cacna1f^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells
Cacna1f^{tm1.1(KOMP)Vlcg}	Reporter-tagged deletion allele (post Cre, with no selection cassette)	Mice, Tissue
Cacna1f^{tm406703(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Cacna1f MGI:1859639

Gene Summary

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Phenotypes

lacZ Expression

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Human diseases caused by Cacna1f mutations

Histopathology

IMPC related publications

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