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Gene: Pde6b MGI:97525

Gene Summary

Name:

phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide

Synonyms:

r, rd10, Pdeb, rd, rd1

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	Pde6b^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00
increased cellular hemoglobin content	Pde6b^Pde6b	HOM	Early adult	5.73×10^-06
abnormal whole-body plethysmography	Pde6b^Pde6b	HOM	Early adult	1.00×10^-05
hyperactivity	Pde6b^{tm1b(KOMP)Wtsi}	HOM	Early adult	9.51×10^-05
decreased defecation amount	Pde6b^Pde6b	HOM	Early adult	5.51×10^-05
increased blood uric acid level	Pde6b^Pde6b	HOM	Early adult	2.61×10^-09
decreased body weight	Pde6b^Pde6b	HOM	Early adult	3.56×10^-06
increased mean corpuscular volume	Pde6b^Pde6b	HOM	Early adult	2.72×10^-07
abnormal heart morphology	Pde6b^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00
increased circulating potassium level	Pde6b^Pde6b	HOM	Early adult	2.28×10^-06
decreased circulating amylase level	Pde6b^Pde6b	HOM	Early adult	2.14×10^-07
decreased locomotor activity	Pde6b^Pde6b	HOM	Early adult	9.17×10^-07
decreased body temperature	Pde6b^Pde6b	HOM	Early adult	1.32×10^-06
increased mean corpuscular hemoglobin concentration	Pde6b^Pde6b	HOM	Early adult	9.07×10^-05
decreased circulating triglyceride level	Pde6b^Pde6b	HOM	Early adult	2.50×10^-08

Download data as: TSV XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Epididymis	Section images	heterozygote	50% (1 of 2)
Esophagus	Section images	heterozygote	50% (1 of 2)
Eye	Section images	heterozygote	100% (2 of 2)
Testis	Section images	heterozygote	50% (1 of 2)
Vas deferens	Section images	heterozygote	50% (1 of 2)
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Blood	N/A	heterozygote	0.0% (0 of 2)
Bone marrow	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	0.0% (0 of 2)
Brainstem	N/A	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	Not available
Cecum	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	Not available
Chest bone	N/A	heterozygote	Not available
Colon	N/A	heterozygote	0.0% (0 of 2)
Diaphragm	N/A	heterozygote	0.0% (0 of 2)
Duodenum	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	Not available
Gonadal fat pad	N/A	heterozygote	0.0% (0 of 2)
Harderian gland	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	Not available
Hindlimb	N/A	heterozygote	Not available
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Ileum	N/A	heterozygote	0.0% (0 of 2)
Jejunum	N/A	heterozygote	0.0% (0 of 2)
Kidney	N/A	heterozygote	0.0% (0 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	Not available
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	Not available
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Mesenteric adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Mesenteric lymph node	N/A	heterozygote	0.0% (0 of 2)
Midbrain	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	0.0% (0 of 2)
Oviduct	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 2)
Parotid gland	N/A	heterozygote	0.0% (0 of 2)
Penis	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	Not available
Peyer's patch	N/A	heterozygote	Not available
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Quadriceps	N/A	heterozygote	0.0% (0 of 2)
Sciatic nerve	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	Not available
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach pyloric region	N/A	heterozygote	Not available
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	Not available
Sublingual gland	N/A	heterozygote	0.0% (0 of 2)
Submandibular gland	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Tongue	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Trigeminal V nerve	N/A	heterozygote	0.0% (0 of 2)
Urinary bladder	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
Vagina	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	Not available
Vesicular gland	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	Not available

No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
blood
bone marrow
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cecum	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
chest bone
colon
diaphragm	0.0%
duodenum	0.0%
epididymis	Unavailable
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
gonadal fat pad	0.0%
harderian gland
heart	0.0%
hindlimb	0.0%
hippocampus	0.0%
hypothalamus	0.0%
ileum	0.0%
jejunum
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
mesenteric adipose tissue	0.0%
mesenteric lymph node
midbrain	0.0%
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
parotid gland	0.0%
penis	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
quadriceps	0.0%
sciatic nerve	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
stomach pyloric region	0.0%
striatum	0.0%
sublingual gland	0.0%
submandibular gland	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
tongue	0.0%
trachea	0.0%
trigeminal v nerve	0.0%
urinary bladder
uterus	0.0%
vagina	0.0%
vas deferens	Unavailable
vascular system	0.0%
vesicular gland	Unavailable
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

Adult LacZ

LacZ Images Section

9 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

Human diseases caused by Pde6b 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 Pde6b (4 diseases)
Human diseases predicted to be associated with Pde6b (1479 diseases)

The table below shows human diseases associated to Pde6b by orthology or direct annotation.

Disease	Matching phenotypes	Source
Night Blindness, Congenital Stationary, Autosomal Dominant 2	Congenital stationary night blindness	OMIM:163500
Retinitis Pigmentosa 40	Nyctalopia, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal b...	OMIM:613801
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Myopia, Retinal thinning, Nyctalopia, Reduced visual acuity,...	ORPHA:215
Retinitis Pigmentosa	Abnormality of retinal pigmentation, Blindness, Abnormal retinal vascular morphology, Optic atrop...	ORPHA:791

The table below shows human diseases predicted to be associated to Pde6b by phenotypic similarity.

Disease	Matching phenotypes	Source
Macular Degeneration, Age-Related, 11	Macular degeneration	OMIM:611953
Macular Degeneration, Age-Related, 4	Macular degeneration	OMIM:610698
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Macular Degeneration, Age-Related, 7	Macular degeneration	OMIM:610149
Macular Degeneration, Age-Related, 2	Macular degeneration	OMIM:153800
Atrophia Maculosa Varioliformis Cutis, Familial	Macular atrophy	OMIM:601341
Macular Degeneration, Age-Related, 6	Macular degeneration	OMIM:613757
Macular Degeneration, Age-Related, 15	Macular degeneration	OMIM:615591
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Retinitis Pigmentosa 42	Reduced visual acuity, Perifoveal ring of hyperautofluorescence, Peripapillary atrophy, Rod-cone ...	OMIM:612943
Cone-Rod Dystrophy 7	Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy, Visual impairment, Color vision...	OMIM:603649
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy, Visual impairment	OMIM:613827
Doyne Honeycomb Retinal Dystrophy	Reticular pigmentary degeneration, Retinal dystrophy, Visual impairment	OMIM:126600
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Drusen, Reticular pigmentary degeneration, Retinal dystrophy	OMIM:267800
Macular Degeneration, Age-Related, 13	Choroidal neovascularization, Macular scar, Drusen, Macular degeneration, Progressive visual loss	OMIM:615439
Cone-Rod Dystrophy 9	Cone/cone-rod dystrophy, Visual impairment	OMIM:612775
Stargardt Disease 3	Macular flecks, Macular atrophy, Reduced visual acuity, Macular dystrophy, Visual impairment	OMIM:600110
Macular Dystrophy, Patterned, 3	Reduced visual acuity, Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy	OMIM:617111
Macular Degeneration, Early-Onset	Macular degeneration, Choroidal neovascularization, Reduced visual acuity	OMIM:616118
Optic Atrophy 9	Optic disc pallor, Red-green dyschromatopsia, Optic atrophy, Reduced visual acuity, Paracentral s...	OMIM:616289
Macular Dystrophy, Retinal, 2	Retinal pigment epithelial atrophy, Central scotoma, Granular macular appearance, Reduced visual ...	OMIM:608051
Macular Dystrophy, Retinal, 3	Macular drusen, Retinal pigment epithelial atrophy, Central scotoma, Reduced visual acuity, Color...	OMIM:608850
Macular Dystrophy, Retinal, 1, North Carolina Type	Peripheral retinal atrophy, Drusen, Central scotoma, Reduced visual acuity, Abnormality of macula...	OMIM:136550
Macular Degeneration, Atrophic, X-Linked	Macular degeneration, Reduced visual acuity	OMIM:300834
Stargardt Disease 4	Macular degeneration, Retinal flecks, Reduced visual acuity	OMIM:603786
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Scotoma, Chorioretinal degeneration, Visual loss,...	OMIM:605670
Macular Dystrophy, Patterned, 2	Drusen, Pattern dystrophy of the retina, Reduced visual acuity, Foveal hyperpigmentation	OMIM:608970
Best Vitelliform Macular Dystrophy	Metamorphopsia, Visual field defect, Cystoid macular degeneration, Choroideremia, Visual impairme...	ORPHA:1243
Retinitis Pigmentosa 29	Blindness, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:612165
Macular Dystrophy, Vitelliform, 2	Reduced visual acuity, Subretinal fluid, Cystoid macular degeneration, Macular dystrophy, Visual ...	OMIM:153700
Sorsby Pseudoinflammatory Fundus Dystrophy	Blindness, Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Lar...	ORPHA:59181
Macular Dystrophy, Vitelliform, 5	Moderately reduced visual acuity, Central scotoma, Reduced visual acuity, Vitelliform-like macula...	OMIM:616152
Leber Congenital Amaurosis 19	Optic disc pallor, Visual impairment, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Blindness, Constriction of peripheral...	OMIM:600138
Retinitis Pigmentosa 70	Optic disc pallor, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Ma...	OMIM:615922
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Reduced visual acu...	OMIM:612712
Retinitis Pigmentosa 63	Optic disc pallor, Nyctalopia, Rod-cone dystrophy, Blurred vision	OMIM:614494
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:610359
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Nyctalopia, Optic atrophy, Chorioretinal atrophy, Rod-co...	OMIM:607921
Leber Congenital Amaurosis 12	Congenital blindness, Abnormality of macular pigmentation	OMIM:610612
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Pericentral scotoma, Peripheral retinal degeneration,...	OMIM:609021
Auditory Neuropathy And Optic Atrophy	Rod-cone dystrophy, Optic atrophy, Visual impairment	OMIM:617717
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Blindness, Nyctalopi...	OMIM:180210
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:617871
Retinitis Pigmentosa 35	Blindness, Rod-cone dystrophy, Reduced visual acuity, Nyctalopia	OMIM:610282
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Co...	OMIM:616544
Retinitis Pigmentosa Inversa With Deafness	Blindness, Rod-cone dystrophy, Retinitis pigmentosa inversa	OMIM:268010
Retinitis Pigmentosa 38	Optic disc pallor, Constriction of peripheral visual field, Peripheral retinal atrophy, Macular a...	OMIM:613862
Retinitis Pigmentosa 78	Optic disc pallor, Photopsia, Nyctalopia, Reduced visual acuity, Visual field defect, Cystoid mac...	OMIM:617433
Retinal Cone Dystrophy 1	Cone/cone-rod dystrophy, Bull's eye maculopathy, Photophobia, Progressive visual loss, Retinal de...	OMIM:180020
Retinitis Pigmentosa 68	Bone spicule pigmentation of the retina, Retinal atrophy, Nyctalopia, Reduced visual acuity, Visu...	OMIM:615725
Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome	Severely reduced visual acuity, Rod-cone dystrophy	ORPHA:3011
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Nyctalopia, R...	OMIM:614181
Macular Dystrophy, Vitelliform, 1	Reduced visual acuity, Visual field defect, Vitelliform-like macular lesions, Macular dystrophy, ...	OMIM:153840
Senior-Loken Syndrome 6	Rod-cone dystrophy, Reduced visual acuity, Visual impairment	OMIM:610189
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Blindness, Macular ...	OMIM:613750
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ph...	OMIM:609913
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal thinnin...	OMIM:617123
Retinitis Pigmentosa 31	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Visual field defect, Attenuation of retin...	OMIM:609923
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Blindness, Macular atrophy, Nyctalopia, Progressive visu...	OMIM:617781
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant	Optic atrophy, Visual impairment	OMIM:165199
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Central scotoma, Reduced visual acu...	OMIM:600977
Optic Atrophy 13 With Retinal And Foveal Abnormalities	Optic atrophy, Reduced visual acuity, Attenuation of retinal blood vessels	OMIM:165510
Leber Hereditary Optic Neuropathy, Modifier Of	Optic atrophy, Leber optic atrophy	OMIM:308905
Newfoundland Rod-Cone Dystrophy	Retinal dystrophy, Scotoma, Nyctalopia, Visual impairment, Color vision defect	OMIM:607476
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Metamorphopsia, Choroidal neovascularization, Amblyopia, Retinal pigment...	ORPHA:97341
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Retinitis Pigmentosa 85	Progressive night blindness, Rod-cone dystrophy, Reduced visual acuity	OMIM:618345
Macular Dystrophy, Patterned, 1	Metamorphopsia, Choroidal neovascularization, Nyctalopia, Absent foveal reflex, Reduced visual ac...	OMIM:169150
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities	Optic disc pallor, Retinal dystrophy, Central scotoma, Nyctalopia, Reduced visual acuity, Photoph...	OMIM:616079
Retinitis Pigmentosa 71	Optic disc pallor, Nyctalopia, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-c...	OMIM:616394
Sorsby Fundus Dystrophy	Macular dystrophy, Blindness, Chorioretinal atrophy	OMIM:136900
Oguchi Disease 2	Congenital stationary night blindness, Mizuo phenomenon	OMIM:613411
Oguchi Disease 1	Congenital stationary night blindness, Mizuo phenomenon	OMIM:258100
Macular Dystrophy, Retinal, 4	Reduced OCT-measured foveal thickness, Nyctalopia, Choroidal neovascularization, Reduced visual a...	OMIM:619977
Cone-Rod Dystrophy 22	Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ...	OMIM:619531
Leber Hereditary Optic Neuropathy, Autosomal Recessive 1	Retinal telangiectasia, Retinal nerve fiber edema, Central scotoma, Central retinal vessel vascul...	OMIM:619382
Hyperleucine-Isoleucinemia	Retinal degeneration	OMIM:238340
Cone-Rod Dystrophy 13	Cone/cone-rod dystrophy, Reduced visual acuity, Photophobia, Macular degeneration, Visual impairm...	OMIM:608194
Bietti Crystalline Dystrophy	Blindness, Retinal pigment epithelial atrophy, Retinal thinning, Large central visual field defec...	ORPHA:41751
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Reduced visual acuity, Photophobia, Peripapillary atrophy, H...	OMIM:617879
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Myopia, Pericentral scotoma, Macular atrophy, Scotoma, N...	OMIM:620342
Cone-Rod Dystrophy 21	Retinal dystrophy, Macular atrophy, Nyctalopia, Reduced visual acuity, Photophobia	OMIM:616502
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Large central visual...	ORPHA:85128
Macular Dystrophy, Vitelliform, 4	Drusen, Macular dystrophy, Vitelliform-like macular lesions, Moderately reduced visual acuity	OMIM:616151
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:606068
Cavitary Optic Disc Anomalies	Nyctalopia, Peripapillary atrophy, Reduced visual acuity, Visual field defect	OMIM:611543
Macular Dystrophy, Vitelliform, 3	Metamorphopsia, Choroidal neovascularization, Macular atrophy, Drusen, Reduced visual acuity, Pho...	OMIM:608161
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C...	OMIM:601718
Cone Dystrophy 3	Cone/cone-rod dystrophy, Macular atrophy, Reduced visual acuity, Photophobia, Progressive visual ...	OMIM:602093
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Blindness, Nyctalopia, Reduced visual a...	OMIM:613731
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:617460
Optic Atrophy 12	Optic disc pallor, Optic atrophy, Reduced visual acuity, Photophobia, Dyschromatopsia, Abnormal I...	OMIM:618977
Retinitis Pigmentosa 18	Scotoma, Nyctalopia, Progressive visual field defects, Retinal arteriolar constriction, Rod-cone ...	OMIM:601414
Choroideremia	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Chorioretinal d...	OMIM:303100
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Ceroid Lipofuscinosis, Neuronal, 6A	Progressive visual loss, Retinal degeneration	OMIM:601780
Glaucoma 1, Open Angle, P	Increased cup-to-disc ratio, Glaucomatous visual field defect	OMIM:177700
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Optic disc pallor, Blindness, Macular atrophy, Nyctalopia, Reduced visua...	OMIM:604393
Retinitis Pigmentosa 47	Nyctalopia, Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Visual impairment	OMIM:613758
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:613582
Cone-Rod Dystrophy, X-Linked, 1	Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Nyctalopia, Redu...	OMIM:304020
Retinitis Pigmentosa 20	Nyctalopia, Severely reduced visual acuity, Rod-cone dystrophy, Visual impairment, Attenuation of...	OMIM:613794
Cone-Rod Dystrophy 17	Cone/cone-rod dystrophy, Optic disc pallor, Central scotoma, Photophobia, Visual impairment	OMIM:615163
Cone-Rod Dystrophy 15	Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Nyctalopia, Photopho...	OMIM:613660
Cone-Rod Dystrophy 12	Cone/cone-rod dystrophy, Bull's eye maculopathy, Central scotoma, Nyctalopia, Reduced visual acui...	OMIM:612657
Night Blindness, Congenital Stationary, Type 1G	Optic disc pallor, Constriction of peripheral visual field, Congenital stationary night blindness...	OMIM:616389
Cone-Rod Dystrophy 11	Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy, Slow decrease in visual acuity,...	OMIM:610381
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Nyctalopia, Reduced visual acuity, Retinal flecks, Rod-con...	OMIM:613194
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Nyctalopia, Photophobia, Rod-cone dystrophy, Color visio...	OMIM:600852
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Macular dystrophy, Blindness, Reduced visual acuity	OMIM:601553
Retinopathy Of Prematurity	Tractional retinal detachment, Blindness, Retinal arteriolar tortuosity, Abnormal retinal vascula...	ORPHA:90050
Wagner Vitreoretinopathy	Myopia, Retinal pigment epithelial atrophy, Visual loss, Optically empty vitreous, Optic atrophy,...	OMIM:143200
Bothnia Retinal Dystrophy	Macular degeneration, Nyctalopia, Retinal dystrophy	OMIM:607475
Bestrophinopathy, Autosomal Recessive	Hypermetropia, Retinal pigment epithelial atrophy, Reduced visual acuity, Retinal flecks	OMIM:611809
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Constriction of peri...	OMIM:619007
Fleck Retina, Familial Benign	Nyctalopia, Retinal flecks, Visual impairment	OMIM:228980
Prolonged Electroretinal Response Suppression 2	Mildly reduced visual acuity, Difficulty adjusting to changes in luminance, Reduced visual acuity...	OMIM:620344
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ma...	OMIM:618826
Optic Atrophy 6	Photophobia, Red-green dyschromatopsia, Optic atrophy, Visual impairment	OMIM:258500
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz...	OMIM:614500
Usher Syndrome, Type Iv	Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field...	OMIM:618144
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:620102
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	High hypermetropia, Retinal degeneration	OMIM:251700
Cone Rod Dystrophy	Abnormality of retinal pigmentation, Nyctalopia, Photophobia, Visual impairment, Color vision defect	ORPHA:1872
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Myopia, Constriction of peripheral vi...	OMIM:180100
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Nyctalopia, Rod-cone dystrophy, Visual impairment, Atten...	OMIM:614180
Retinitis Pigmentosa 54	Bone spicule pigmentation of the retina, Fundus atrophy, Nyctalopia, Rod-cone dystrophy, Visual i...	OMIM:613428
Macular Dystrophy With Central Cone Involvement	Optic disc pallor, Bull's eye maculopathy, Central scotoma, Red-green dyschromatopsia, Reduced vi...	OMIM:616170
Retinitis Pigmentosa	Constriction of peripheral visual field, Rod-cone dystrophy, Abnormality of fundus pigmentation, ...	OMIM:268000
Fundus Albipunctatus	Nyctalopia, Retinal flecks, Fundus albipunctatus	OMIM:136880
Macular Degeneration, Age-Related, 1	Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg...	OMIM:603075
Choroideremia	Abnormality of retinal pigmentation, Myopia, Nyctalopia, Abnormality of vision, Progressive visua...	ORPHA:180
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Nyctalopia, Opt...	OMIM:600059
Achromatopsia 7	Hypoplasia of the fovea, Macular atrophy, Central scotoma, Absent foveal reflex, Reduced visual a...	OMIM:616517
Exudative Vitreoretinopathy 3	Retinal detachment, Reduced visual acuity, Retinal exudate, Exudative vitreoretinopathy, Retinal ...	OMIM:605750
Ocular Pigment Dispersion With Or Without Glaucoma	Myopia, Optic atrophy	OMIM:600510
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H	Macular degeneration	OMIM:619764
Retinitis Pigmentosa 7	Constriction of peripheral visual field, Nyctalopia, Adult-onset night blindness, Chorioretinal a...	OMIM:608133
Retinitis Pigmentosa 92	Constriction of peripheral visual field, Nyctalopia, Paracentral scotoma, Pigmentary retinopathy,...	OMIM:619614
Retinal Dystrophy And Obesity	Retinal detachment, Myopia, Retinal pigment epithelial atrophy, Retinal dystrophy, Reduced visual...	OMIM:616188
Basal Laminar Drusen	Drusen, Progressive visual loss	OMIM:126700
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Constriction of peripheral visual field, Macular atrophy, Nyctalopia, Hypermetropia, Cystoid macu...	OMIM:267760
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment...	OMIM:618889
Spastic Paraplegia 74, Autosomal Recessive	Peripheral axonal neuropathy, Optic atrophy, Visual impairment, Visual field defect	OMIM:616451
Retinitis Pigmentosa 69	Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Pigmentary retinopath...	OMIM:615780
Tritanopia	Abnormal retinal morphology, Reduced visual acuity, Color vision test abnormality, Photophobia, T...	ORPHA:88629
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal thinnin...	OMIM:620228
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Macular atrophy...	OMIM:180104
Mental Retardation With Optic Atrophy, Deafness, And Seizures	Blindness, Optic atrophy, Severely reduced visual acuity	OMIM:309555
Temporal Arteritis	Blindness, Retinal arteritis	OMIM:187360
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Exudative Vitreoretinopathy 5	Reduced visual acuity, Exudative vitreoretinopathy, Falciform retinal fold, Visual impairment, Re...	OMIM:613310
Usher Syndrome, Type Iiia	Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Visual field defect	OMIM:276902
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Nyctalopia, Visual ac...	OMIM:618220
Ceroid Lipofuscinosis, Neuronal, 7	Blindness, Visual loss, Optic atrophy, Pigmentary retinopathy, Retinopathy	OMIM:610951
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Myopia, Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate, Progressive...	OMIM:264420
Usher Syndrome, Type Iid	Nyctalopia, Rod-cone dystrophy	OMIM:611383
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:611040
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia, Vis...	ORPHA:1852
Retinitis Pigmentosa 26	Optic disc pallor, Constriction of peripheral visual field, Rod-cone dystrophy, Visual impairment...	OMIM:608380
Optic Atrophy 3, Autosomal Dominant	Reduced visual acuity, Optic disc pallor, Optic atrophy, Scotoma	OMIM:165300
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Ring scotoma, N...	OMIM:300029
Achromatopsia	Hypoplasia of the fovea, Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial m...	ORPHA:49382
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Pe...	OMIM:613756
Foveal Hypoplasia-Presenile Cataract Syndrome	Abnormality of vision, Optic atrophy	ORPHA:2253
Night Blindness, Congenital Stationary, Autosomal Dominant 3	Congenital stationary night blindness	OMIM:610444
Night Blindness, Congenital Stationary, Autosomal Dominant 2	Congenital stationary night blindness	OMIM:163500
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Constriction...	OMIM:615973
Retinitis Pigmentosa 40	Nyctalopia, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal b...	OMIM:613801
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy	Optic disc pallor, Optic atrophy, Reduced visual acuity, Color vision defect	OMIM:618511
Leber Congenital Amaurosis 2	Optic disc pallor, Blindness, Fundus atrophy, Nyctalopia, Absent foveal reflex, Reduced visual ac...	OMIM:204100
Cone Dystrophy 4	Cone/cone-rod dystrophy, Reduced visual acuity, Absent foveal reflex, Photophobia, Dyschromatopsi...	OMIM:613093
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Nyctalopia, Pigmentary retinopathy	OMIM:179840
Cone-Rod Dystrophy 18	Cone/cone-rod dystrophy, Central scotoma, Reduced visual acuity, High myopia, Foveal hyperpigment...	OMIM:615374
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l...	OMIM:613617
Chorioretinal Atrophy, Progressive Bifocal	Retinal detachment, Chorioretinal dystrophy, Myopia, Chorioretinal atrophy, Visual impairment	OMIM:600790
Retinitis Pigmentosa 2	Pericentral scotoma, Myopia, Constriction of peripheral visual field, Ring scotoma, Bull's eye ma...	OMIM:312600
Leber Congenital Amaurosis 16	Optic disc pallor, Nyctalopia, Reduced visual acuity, Visual field defect, Photophobia, Visual im...	OMIM:614186
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Reduced visual acuity, Macular edema, Photo...	ORPHA:209943
Birdshot Chorioretinopathy	Arcuate scotoma, Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroi...	ORPHA:179
Retinal Cone Dystrophy 3B	Cone/cone-rod dystrophy, Myopia, Scotoma, Macular atrophy, Nyctalopia, Reduced visual acuity, Pho...	OMIM:610356
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field...	OMIM:617304
Deafness, Autosomal Recessive 37	Congenital stationary night blindness, Rod-cone dystrophy	OMIM:607821
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Retinal dysplasia	OMIM:615041
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Myopia, Optic atrophy, Visual impairment	ORPHA:1574
Progressive Bifocal Chorioretinal Atrophy	Myopia, Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy, Visual impairment	ORPHA:75373
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Blue Cone Monochromacy	Blue cone monochromacy, Myopia, Reduced visual acuity, Photophobia, Abnormality of macular pigmen...	OMIM:303700
Cone-Rod Dystrophy, X-Linked, 3	Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Myopia, Central scotoma, Absent f...	OMIM:300476
Usher Syndrome, Type 1M	Drusen, Optic disc pallor, Nyctalopia	OMIM:618632
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Leber Congenital Amaurosis 14	Optic disc pallor, Retinal dystrophy, Nyctalopia, Reduced visual acuity, Photophobia, Congenital ...	OMIM:613341
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation, Metamorphopsia	OMIM:233800
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:615233
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Reduced visual acuity, Chorioretinal dysplasia, Visual impairment	OMIM:616335
Usher Syndrome, Type Iiib	Optic disc pallor, Bull's eye maculopathy, Photophobia, Visual impairment, Attenuation of retinal...	OMIM:614504
Optic Atrophy 5	Optic disc pallor, Constriction of peripheral visual field, Central scotoma, Optic atrophy, Slow ...	OMIM:610708
Leber Congenital Amaurosis 11	Reduced visual acuity, Visual impairment	OMIM:613837
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C...	OMIM:613983
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Hi...	OMIM:600105
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:180105
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Ceroid Lipofuscinosis, Neuronal, 11	Optic atrophy, Retinal dystrophy, Visual impairment	OMIM:614706
Nystagmus 2, Congenital, Autosomal Dominant	Mildly reduced visual acuity, Reduced visual acuity, Visual impairment	OMIM:164100
Ceroid Lipofuscinosis, Neuronal, 2	Retinal degeneration	OMIM:204500
Oguchi Disease	Myopia, Mizuo phenomenon, Diplopia, Visual field defect, Macular degeneration, Congenital station...	ORPHA:75382
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l...	OMIM:612095
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Constriction of peripheral visual field, Retinal pigment epithelial mott...	OMIM:610478
Retinitis Pigmentosa 6	Constriction of peripheral visual field, Chorioretinal degeneration, Nyctalopia, Pigmentary retin...	OMIM:312612
Spinocerebellar Ataxia, Autosomal Recessive 12	Optic atrophy, Retinal degeneration	OMIM:614322
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Visual field defect, Rod-cone dystrophy, Visual impairme...	OMIM:613809
Night Blindness, Congenital Stationary, Type 1F	Retinal perforation, Nyctalopia, Reduced visual acuity, High myopia, Congenital stationary night ...	OMIM:615058
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Mildly reduced visual acuity, Vitreous floaters, Lattice retinal degeneration...	OMIM:614292
Retinal Capillary Malformation	Myopia, Blindness, Subretinal exudate, Central fundal arteriolar microaneurysms, Photopsia, Vitre...	ORPHA:71213
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Myopia, Retinal thinning, Nyctalopia, Reduced visual acuity,...	ORPHA:215
Optic Atrophy--Spastic Paraplegia Syndrome	Optic atrophy	OMIM:311100
Central Retinal Vein Occlusion	Papilledema, Large central visual field defect, Epiretinal membrane, Visual loss, Intraretinal he...	ORPHA:411527
Retinitis Pigmentosa 93	Rod-cone dystrophy, Constriction of peripheral visual field, Retinal dots, Reduced visual acuity	OMIM:619845
Nanophthalmos 4	Hypermetropia, Reduced visual acuity, Optic disc drusen	OMIM:615972
Corneal Dystrophy, Avellino Type	Reduced visual acuity, Visual impairment	OMIM:607541
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Retinal dystrophy, Peripheral retinal atrophy, Nyctalopia, Absent foveal reflex, Reduced visual a...	OMIM:615147
Ceroid Lipofuscinosis, Neuronal, 9	Rod-cone dystrophy, Optic atrophy, Progressive visual loss	OMIM:609055
Wolfram-Like Syndrome, Autosomal Dominant	Optic disc pallor, Blind-spot enlargment, Optic atrophy, Reduced visual acuity, Severely reduced ...	OMIM:614296
Ophthalmoplegia, External, And Myopia	Retinal degeneration, Chorioretinal degeneration	OMIM:311000
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina, Visual field defect	OMIM:610445
X-Linked Neurodegenerative Syndrome, Bertini Type	Macular degeneration	ORPHA:85334
Adult-Onset Foveomacular Vitelliform Dystrophy	Visual field defect, Retinal nonattachment, Abnormality of vision, Vitelliform-like macular lesio...	ORPHA:99000
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinal pigment epithelial mottling, Blindness, Rod-cone dystrophy, Retinopathy	OMIM:551500
Retinal Cone Dystrophy 3A	Cone dystrophy, Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Dyschromatopsia	OMIM:610024
Cataract 7	Visual loss, Mildly reduced visual acuity	OMIM:115660
Ethanolaminosis	Cardiomegaly	OMIM:227150
Morm Syndrome	Retinal atrophy, Retinal dystrophy, Photophobia, Progressive night blindness, Visual impairment	ORPHA:75858
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:616469
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Visual loss, Central scotoma,...	OMIM:604116
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness	Optic atrophy	OMIM:136600
Ceroid Lipofuscinosis, Neuronal, 3	Blindness, Optic atrophy, Reduced visual acuity, Macular degeneration, Progressive visual loss, R...	OMIM:204200
Multiple Mitochondrial Dysfunctions Syndrome 4	Optic atrophy, Visual impairment	OMIM:616370
Oculorenocerebellar Syndrome	Retinal degeneration	OMIM:257970
Exudative Vitreoretinopathy 4	Blindness, Peripheral retinal avascularization, Reduced visual acuity, Posterior vitreous detachm...	OMIM:601813
Optic Atrophy 2	Optic atrophy	OMIM:311050
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Blindness, Nyctalopia, Peripheral v...	OMIM:605549
Congenital Glaucoma	Visual loss, Retinal detachment	ORPHA:98976
Spastic Paraplegia, Optic Atrophy, And Dementia	Optic disc pallor, Constriction of peripheral visual field, Optic atrophy	OMIM:182830
Gyrate Atrophy Of Choroid And Retina	Myopia, Blindness, Nyctalopia, Foveoschisis, Chorioretinal atrophy, Macular thickening, Visual im...	OMIM:258870
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Vitreous floate...	OMIM:618173
Retinitis Pigmentosa 45	Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Macular degene...	OMIM:613767
Cone-Rod Dystrophy 19	Cone/cone-rod dystrophy, Perifoveal ring of hyperautofluorescence, Reduced visual acuity, High my...	OMIM:615860
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Abnormality of vision, Optic atrophy	ORPHA:2773
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ma...	OMIM:618195
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Optic disc pallor, Blind-spot enlargment, Central scotoma, Reduced visual acuity, Photophobia, Co...	OMIM:616732
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Retinopathy, Visual impairment	ORPHA:1995
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Rhegmatogenous retinal detachment, Lattice retinal degeneration	OMIM:619248
Nephronophthisis 15	Blindness, Retinal degeneration	OMIM:614845
Retinitis Pigmentosa 23	Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Mild myopia, Absent ...	OMIM:300424
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Photophobia, Optic disc pallor, Retinal thinning, Reduced visual acuity	OMIM:618970
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Blindness, Reduced visual acuity, Abnormal optic disc morphology, Vitreoretinopathy, Retinal vasc...	ORPHA:440727
Bietti Crystalline Corneoretinal Dystrophy	Constriction of peripheral visual field, Chorioretinal atrophy, Reduced visual acuity, High myopi...	OMIM:210370
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Visual impairment	ORPHA:2246
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Cone-Rod Dystrophy 10	Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Photophobia, M...	OMIM:610283
Spastic Paraplegia 57, Autosomal Recessive	Visual loss, Optic atrophy	OMIM:615658
Bardet-Biedl Syndrome 21	Cone/cone-rod dystrophy, Hypoplasia of the fovea, Myopia, Retinal atrophy, Retinal thinning, Blin...	OMIM:617406
Retinitis Pigmentosa 51	Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, High myopia, Photopho...	OMIM:613464
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Nyctalopia, Ch...	OMIM:601777
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Retinal degeneration	OMIM:617173
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Blindness, Optic atrophy	ORPHA:2787
Leber Congenital Amaurosis 1	Blindness, Fundus atrophy, Nyctalopia, Reduced visual acuity, Optic disc drusen, Photophobia, Pig...	OMIM:204000
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:602772
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:613581
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:600132
Exudative Vitreoretinopathy 1	Retinal detachment, Blindness, Peripheral retinal avascularization, Vitreous floaters, Reduced vi...	OMIM:133780
Nystagmus 1, Congenital, X-Linked	Mildly reduced visual acuity, Reduced visual acuity	OMIM:310700
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa	Absent retinal pigment epithelium, Nyctalopia, Abnormal fundus morphology, Abnormal optic nerve m...	ORPHA:436274
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l...	OMIM:613810
Acute Zonal Occult Outer Retinopathy	Blind-spot enlargment, Vitritis, Myopia, Retinal pigment epithelial mottling, Hemianopia, Rod-con...	ORPHA:284454
Intellectual Developmental Disorder, Autosomal Dominant 33	Chorioretinal degeneration, Amblyopia	OMIM:616311
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Blindness, Large hyperpigmented retina...	OMIM:193235
Ceroid Lipofuscinosis, Neuronal, 1	Blindness, Optic atrophy, Macular degeneration, Progressive visual loss, Retinal degeneration	OMIM:256730
Late-Onset Retinal Degeneration	Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr...	ORPHA:67042
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Central scotoma, Nyctalopi...	ORPHA:52427
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Glaucoma 1, Open Angle, F	Increased cup-to-disc ratio, Glaucomatous visual field defect	OMIM:603383
Nephronophthisis 14	Retinal degeneration	OMIM:614844
Night Blindness, Congenital Stationary, Type1I	Tritanomaly, Nyctalopia	OMIM:618555
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, N...	OMIM:616108
Schizophrenia 15	Hyperactivity	OMIM:613950
Åland Islands Eye Disease	Hypoplasia of the fovea, Myopia, Difficulty adjusting from light to dark, Reduced visual acuity, ...	ORPHA:178333
Optic Atrophy 7 With Or Without Auditory Neuropathy	Optic disc pallor, Constriction of peripheral visual field, Central scotoma, Optic atrophy, Reduc...	OMIM:612989
Cone-Rod Dystrophy And Hearing Loss 1	Retinal atrophy, Photophobia, Macular degeneration, Hemeralopia, Dyschromatopsia, Visual impairment	OMIM:617236
Retinitis Pigmentosa 37	Constriction of peripheral visual field, Red-green dyschromatopsia, Nyctalopia, Reduced visual ac...	OMIM:611131
Macular Degeneration, Age-Related, 3	Drusen, Macular degeneration, Choroidal neovascularization	OMIM:608895
Chromosome Xq21 Deletion Syndrome	Constriction of peripheral visual field, Chorioretinal degeneration, Nyctalopia, Chorioretinal at...	OMIM:303110
Intracranial Hypertension, Idiopathic	Papilledema	OMIM:243200
Leber Hereditary Optic Neuropathy	Retinal telangiectasia, Central scotoma, Optic atrophy, Slow decrease in visual acuity, Centrocec...	ORPHA:104
Bardet-Biedl Syndrome 4	Nyctalopia, Rod-cone dystrophy, Retinal degeneration	OMIM:615982
Progressive Cone Dystrophy	Photophobia, Abnormality of retinal pigmentation, Visual impairment, Color vision defect	ORPHA:1871
Optic Atrophy 1	Central scotoma, Red-green dyschromatopsia, Optic atrophy, Reduced visual acuity, Centrocecal sco...	OMIM:165500
Spastic Paraplegia 82, Autosomal Recessive	Optic atrophy, Reduced visual acuity	OMIM:618770
Leber Congenital Amaurosis 15	Optic disc pallor, Myopia, Constriction of peripheral visual field, Nyctalopia, Reduced visual ac...	OMIM:613843
Retinitis Pigmentosa 46	Optic disc pallor, Constriction of peripheral visual field, Pigmentary retinopathy, Rod-cone dyst...	OMIM:612572
Oculocutaneous Albinism Type 6	Reduced visual acuity, Abnormal fundus morphology, Abnormal foveal morphology on macular OCT, Pho...	ORPHA:370097
Chromosome 16Q12 Duplication Syndrome	Retinal pigment epithelial mottling, Nyctalopia, Reduced visual acuity, High myopia, Photophobia,...	OMIM:619649
Night Blindness, Congenital Stationary, Type 1E	Congenital stationary night blindness, Reduced visual acuity, Visual impairment, High myopia	OMIM:614565
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Retinitis Pigmentosa 44	Constriction of peripheral visual field, Rod-cone dystrophy, Visual impairment, Attenuation of re...	OMIM:613769
X-Linked Neurodegenerative Syndrome, Hamel Type	Blindness	ORPHA:85336
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Hyperuricemia, Anemia	ORPHA:371
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:615990
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Nyctalopia, Retinal dystrophy, Reduced visual acuity	OMIM:610156
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia, Deuteranopia, Amblyopia, High myopia...	OMIM:300843
Severe Early-Childhood-Onset Retinal Dystrophy	Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Photophobia, Retinal ...	ORPHA:364055
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Spastic Ataxia 7, Autosomal Dominant	Optic atrophy	OMIM:108650
Bardet-Biedl Syndrome 16	Rod-cone dystrophy, Retinal degeneration	OMIM:615993
Gyrate Atrophy Of Choroid And Retina	Myopia, Blindness, Constriction of peripheral visual field, Chorioretinal degeneration, Chorioret...	ORPHA:414
Albinism, Oculocutaneous, Type Vi	Hypoplasia of the fovea, Photophobia, Reduced visual acuity, Visual impairment	OMIM:113750
Early-Onset X-Linked Optic Atrophy	Optic disc pallor, Decreased nerve conduction velocity, Central scotoma, Optic atrophy, Reduced v...	ORPHA:98890
Oliver-Mcfarlane Syndrome	Pigmentary retinopathy, Retinal degeneration	OMIM:275400
Myopia 3, Autosomal Dominant	Retinal detachment, High myopia	OMIM:603221
Myopia 25, Autosomal Dominant	Retinal detachment, High myopia	OMIM:617238
Myopia 2, Autosomal Dominant	Retinal detachment, High myopia	OMIM:160700
Myopia 5, Autosomal Dominant	Retinal detachment, High myopia	OMIM:608474
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Respiratory insufficiency, Increased blood urea nitrogen, Anemia, Leu...	OMIM:613845
Birdshot Chorioretinopathy	Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitreous floaters, Vitriti...	OMIM:605808
Autosomal Recessive Spastic Paraplegia Type 45	Myopia, Optic atrophy	ORPHA:320396
Night Blindness, Congenital Stationary, Type 1B	Myopia, Bone spicule pigmentation of the retina, Nyctalopia, Hemeralopia, Congenital stationary n...	OMIM:257270
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Exudative retinal detachment, Retinal arterial macroaneurysms	OMIM:614224
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Retinal detachment, Congenital blindness	ORPHA:436182
Bardet-Biedl Syndrome 2	Rod-cone dystrophy, Retinal degeneration	OMIM:615981
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Visual loss, Optic atrophy	OMIM:611726
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Retinal degeneration	OMIM:520000
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration	OMIM:602271
Retinitis Pigmentosa 75	Myopia, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Rod-co...	OMIM:617023
Autosomal Recessive Spastic Paraplegia Type 74	Peripheral axonal neuropathy, Optic atrophy, Visual impairment, Visual field defect	ORPHA:468661
Blue Cone Monochromatism	Blue cone monochromacy, Abnormality of retinal pigmentation, Photophobia, Visual impairment	ORPHA:16
Lesch-Nyhan Syndrome	Hyperuricemia, Anemia	ORPHA:510
Iris Pigment Layer, Cleavage Of	Peripheral retinal detachment	OMIM:147610
Leber Congenital Amaurosis 3	Visual loss, Nyctalopia, Constriction of peripheral visual field	OMIM:604232
Spastic Paraplegia 81, Autosomal Recessive	Retinal vascular tortuosity, Optic atrophy, Reduced visual acuity, Cerebral visual impairment	OMIM:618768
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad...	ORPHA:3202
8p23.1 deletion syndrome	Atrial septal defect, Hyperactivity, Atrioventricular canal defect, Abnormal heart morphology	DECIPHER:39
Cerebral Sclerosis, Diffuse, Scholz Type	Blindness	OMIM:302700
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin...	OMIM:145350
Corneal Dystrophy, Gelatinous Drop-Like	Photophobia, Reduced visual acuity, Visual impairment, Blurred vision	OMIM:204870
Spasticity, Childhood-Onset, With Hyperglycinemia	Optic atrophy, Visual impairment	OMIM:616859
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Achromatopsia 2	Hypoplasia of the fovea, Retinal thinning, Nyctalopia, Absent foveal reflex, Reduced visual acuit...	OMIM:216900
Vitreoretinochoroidopathy	Retinal detachment, Blindness, Nyctalopia, Retinal arteriolar occlusion, Vitreous hemorrhage, Pig...	OMIM:193220
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Pigmentary retinopathy, Retinal degeneration	ORPHA:3363
Narp Syndrome	Optic disc pallor, Abnormal visual field test, Blindness, Constriction of peripheral visual field...	ORPHA:644
Night Blindness, Congenital Stationary, Type 1H	Hypermetropia, Photophobia, Nyctalopia, Mild myopia	OMIM:617024
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots	OMIM:193230
Stickler Syndrome, Type I, Nonsyndromic Ocular	Optically empty vitreous, Myopia, Rhegmatogenous retinal detachment	OMIM:609508
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Amblyopia	ORPHA:35737
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased mean corpuscular volume, Increas...	ORPHA:98870
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
3-Methylglutaconic Aciduria, Type Iii	Optic atrophy, Reduced visual acuity, Visual impairment	OMIM:258501
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Optic Pathway Glioma	Papilledema, Blindness, Visual loss, Neurofibroma, Optic atrophy, Reduced visual acuity, Visual f...	ORPHA:2086
Cherubism	Optic atrophy, Progressive visual loss, Visual impairment	ORPHA:184
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Myopia, Patchy atrophy of the retinal pigment ...	OMIM:616468
Ceroid Lipofuscinosis, Neuronal, 5	Retinal degeneration	OMIM:256731
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Dermochondrocorneal Dystrophy	Reduced visual acuity	ORPHA:79149
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Segmental peripheral demyelination/remyelination, Optic atrophy, Progressive visual loss, Rod-con...	OMIM:311070
Glycogen Storage Disease Ixa1	Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia	OMIM:306000
Neovascular Glaucoma	Retinal detachment, Abnormal posterior eye segment morphology, Retinal vascular proliferation, Vi...	ORPHA:94058
Night Blindness, Congenital Stationary, Type 1C	Congenital stationary night blindness, Myopia, Reduced visual acuity	OMIM:613216
Myopia 28, Autosomal Recessive	Retinal detachment, High myopia	OMIM:619781
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Respiratory insuff...	OMIM:617021
Cone-Rod Synaptic Disorder, Congenital Nonprogressive	Congenital stationary night blindness, Photophobia, Visual impairment, Color vision defect	OMIM:610427
Spastic Ataxia-Corneal Dystrophy Syndrome	Myopia, Optic atrophy	ORPHA:2572
Poretti-Boltshauser Syndrome	Myopia, Retinal atrophy, Retinal thinning, Retinal dystrophy, Amblyopia	OMIM:615960
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia	OMIM:617056
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
Canavan Disease	Abnormality of retinal pigmentation, Blindness, Optic atrophy, Visual impairment	ORPHA:141
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Retinal degeneration	OMIM:616896
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy, Reduced visual acuity	OMIM:616722
Homocarnosinosis	Abnormality of retinal pigmentation	OMIM:236130
Sjogren-Larsson Syndrome	Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Reduced visual acuity, Ph...	OMIM:270200
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Photophobia, Visual impairment, Color vision ...	ORPHA:1873
Olivopontocerebellar Atrophy-Deafness Syndrome	Optic atrophy, Chorioretinal coloboma	ORPHA:2732
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Nyctalopia, Rod-cone dystrophy, Visual impairment	OMIM:600151
Chromosome Xp11.3 Deletion Syndrome	Moderate myopia, Blindness, Constriction of peripheral visual field, Nyctalopia, Optic atrophy, P...	OMIM:300578
Amaurosis-Hypertrichosis Syndrome	Cone/cone-rod dystrophy, Retinal dystrophy, Optic atrophy, Photophobia, High hypermetropia, Visua...	ORPHA:1021
Optic Atrophy 8	Abnormal auditory evoked potentials, Visual loss, Central scotoma, Optic atrophy, Prolonged somat...	OMIM:616648
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Abetalipoproteinemia	Retinopathy, Retinal degeneration	OMIM:200100
Blindness-Scoliosis-Arachnodactyly Syndrome	Visual loss, Retinal detachment, Blindness, Abnormality of retinal pigmentation	ORPHA:171844
Retinitis Pigmentosa	Abnormality of retinal pigmentation, Blindness, Abnormal retinal vascular morphology, Optic atrop...	ORPHA:791
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hyponatremia, Macrocytic anemia, Decreased circulating cortisol level, Hyperca...	ORPHA:199299
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Hypotrichosis With Juvenile Macular Degeneration	Macular degeneration, Blindness, Abnormality of macular pigmentation	ORPHA:1573
Spinocerebellar Ataxia 7	Macular degeneration, Optic atrophy, Pigmentary retinopathy, Progressive visual loss	OMIM:164500
Leber Congenital Amaurosis 8	Macular coloboma, Chorioretinal atrophy, Reduced visual acuity, Nummular pigmentation of the fund...	OMIM:613835
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Hyperuricemia, Anemia	OMIM:613092
Developmental And Epileptic Encephalopathy 58	Optic atrophy, Visual impairment	OMIM:617830
Night Blindness, Congenital Stationary, Type 2A	Congenital stationary night blindness, Reduced visual acuity, Visual impairment	OMIM:300071
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity	Optic atrophy	OMIM:618572
Enhanced S-Cone Syndrome	Nyctalopia, Macular edema, Hemeralopia, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis	OMIM:268100
Migraine, Familial Hemiplegic, 3	Photophobia, Blindness	OMIM:609634
Mucolipidosis Iv	Photophobia, Visual impairment, Optic atrophy, Retinal degeneration	OMIM:252650
Bardet-Biedl Syndrome 5	Macular dystrophy, Rod-cone dystrophy, Reduced visual acuity	OMIM:615983
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Reduced er...	OMIM:232800
Retinal Dystrophy With Or Without Macular Staphyloma	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ...	OMIM:617547
Oculocutaneous Albinism, Type Viii	Hypoplasia of the fovea, Photophobia, Chorioretinal hypopigmentation, Reduced visual acuity	OMIM:619165
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Glycogen Storage Disease Ixb	Splenomegaly, Diarrhea, Hyperuricemia	OMIM:261750
Spastic Paraplegia 43, Autosomal Recessive	Optic atrophy	OMIM:615043
Idiopathic Panuveitis	Blindness, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, R...	ORPHA:280921
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Opticocochleodentate Degeneration	Visual loss, Optic atrophy	OMIM:258700
Cataract 50 With Or Without Glaucoma	Retinal detachment	OMIM:620253
Seizures, Cortical Blindness, And Microcephaly Syndrome	Optic atrophy, Cerebral visual impairment	OMIM:616632
Stickler Syndrome Type 2	Retinal detachment, Myopia, Retinopathy, Abnormal vitreous humor morphology	ORPHA:90654
Idiopathic Uveal Effusion Syndrome	Metamorphopsia, Reduced visual acuity, Subretinal fluid, Visual field defect, Exudative retinal d...	ORPHA:209956
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Fever, Hyperammonemia, Vomiting, Hyperuricemia, Anemia	OMIM:246450
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Thrombocytopenia 5	Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia...	OMIM:616216
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Hypoplasia of the fovea, Optic atrophy	OMIM:620086
Mucous Membrane Pemphigoid	Blindness	ORPHA:46486
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Abnormal auditory evoked potentials, Red-green dyschromatopsia, Central scotoma, Optic atrophy, R...	OMIM:125250
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Myopia, Retinal atrophy, Retinal pigment epithelial atrophy, Ring scotoma, Epi...	OMIM:616959
Lesch-Nyhan Phenotype With Normal Hgprt	Choreoathetosis, Hyperuricemia	OMIM:308950
Juvenile Glaucoma	Optic neuropathy, Central scotoma, Peripheral visual field loss, High myopia, Retinal arterial oc...	ORPHA:98977
Aland Island Eye Disease	Hypoplasia of the fovea, Myopia, Severely reduced visual acuity	OMIM:300600
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Optic atrophy, Facial palsy, Visual impairment	ORPHA:178377
Corneal Dystrophy, Lattice Type Iiia	Reduced visual acuity, Visual impairment	OMIM:608471
Leg, Absence Deformity Of, With Congenital Cataract	Optic nerve dysplasia, Visual impairment	OMIM:246000
Microphthalmia, Isolated 6	High hypermetropia, Retinal fold, Amblyopia	OMIM:613517
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Lethargy, Hypothermia	OMIM:615026
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Rod-cone dystrophy, Reduced visual acuity	OMIM:619082
Burkitt Lymphoma	Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the spleen, Hyperuricemia, De...	ORPHA:543
3-Hydroxy-3-Methylglutaric Aciduria	Fever, Apnea, Ataxia, Hypothermia, Leukocytosis, Tachypnea, Diarrhea, Hyperammonemia, Weight loss...	ORPHA:20
Beta-Ketothiolase Deficiency	Fever, Ataxia, Leukocytosis, Tachypnea, Diarrhea, Hyperammonemia, Weight loss, Vomiting, Hyperuri...	ORPHA:134
Scheie Syndrome	Retinal degeneration	OMIM:607016
Hsd10 Mitochondrial Disease	Visual loss, Optic atrophy, Retinal degeneration	OMIM:300438
Spastic Paraplegia 45, Autosomal Recessive	Myopia, Optic atrophy	OMIM:613162
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Reduced visual acuity, Retinal pigment epithelial mottling, Central retinal vessel vascular tortu...	ORPHA:506353
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal...	OMIM:611590
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Increased mean corpuscul...	ORPHA:2169
Retinitis Pigmentosa 59	Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Rod-cone dystrophy, C...	OMIM:613861
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)	Visual loss, Peripheral axonal neuropathy, Optic atrophy	OMIM:619425
Cherubism	Macular scar, Marcus Gunn pupil, Optic neuropathy	OMIM:118400
Retinal Dystrophy And Microvillus Inclusion Disease	Optic disc pallor, Severely reduced visual acuity	OMIM:619446
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Blindness, ...	OMIM:609033
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Blindness, Myopia, Optic nerve hypoplasia	OMIM:615181
Coats Disease	Abnormal retinal vascular morphology, Retinal detachment, Abnormal macular morphology	ORPHA:190
Atypical Pantothenate Kinase-Associated Neurodegeneration	Retinopathy, Blindness, Optic atrophy	ORPHA:216873
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Fever, Hyperkalemia, Abnormal circulating corticosterone level, Increased circulati...	ORPHA:556037
Spontaneous Periodic Hypothermia	Ataxia, Hypothermia, Diarrhea, Gait disturbance, Abnormal pattern of respiration	ORPHA:29822
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Diamond-Blackfan Anemia 6	Macrocytic anemia, Persistence of hemoglobin F, Increased mean corpuscular volume, Tracheomalacia...	OMIM:612561
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome	Retrobulbar optic neuritis, Diplopia, Optic atrophy	ORPHA:3151
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr...	OMIM:615234
Oculocutaneous Albinism Type 5	Hypoplasia of the fovea, Ocular albinism, Reduced visual acuity, Abnormal fundus morphology, Phot...	ORPHA:370091
Retinitis Pigmentosa 87 With Choroidal Involvement	Bone spicule pigmentation of the retina, Chorioretinal atrophy, Peripheral visual field loss, Num...	OMIM:618697
Retinitis Pigmentosa 89	Constriction of peripheral visual field, Retinal thinning, Nyctalopia, Hyperautofluorescent retin...	OMIM:618955
Sandhoff Disease	Cherry red spot of the macula, Blindness	ORPHA:796
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Stomatocytosis, Increased me...	OMIM:185000
Nescav Syndrome	Peripheral axonal neuropathy, Optic atrophy, Cerebral visual impairment	OMIM:614255
Foveal Hypoplasia 2	Hypoplasia of the fovea, Reduced visual acuity, Foveal hyperpigmentation, Optic nerve misrouting	OMIM:609218
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Recurrent sinusitis, Neutropenia,...	OMIM:618849
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Congenital Disorder Of Glycosylation, Type Iaa	Optic disc pallor, Cerebral visual impairment, Attenuation of retinal blood vessels	OMIM:617082
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Megaloblastic anemia, Hyperhomocystine...	OMIM:277410
Developmental And Epileptic Encephalopathy 28	Optic atrophy, Retinal degeneration	OMIM:616211
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Severely reduced visual acuity, Retinal coloboma, Moderately reduced visual acuity, Chorioretinal...	ORPHA:2921
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent...	OMIM:616860
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Spastic Paraplegia 55, Autosomal Recessive	Peripheral axonal neuropathy, Central scotoma, Optic atrophy, Reduced visual acuity, Onion bulb f...	OMIM:615035
Behr Syndrome	Blindness, Optic atrophy, Hypoplastic optic chiasm, Progressive visual loss, Sensory axonal neuro...	OMIM:210000
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Myopia, Retinal atrophy, Retinal dystrophy, Amblyopia, Hypermetropia	ORPHA:370022
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Small for gestational age, Pneumonia, Episodic tachypnea, Elevated circulat...	ORPHA:26793
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Retinal dysplasia	OMIM:614830
Leber Congenital Amaurosis 6	Photophobia, High hypermetropia, Severely reduced visual acuity, Attenuation of retinal blood ves...	OMIM:613826
Majeed Syndrome	Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:609628
Coloboma Of Macula	Macular coloboma	OMIM:120300
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Vomiting, Failure to thrive, Recur...	OMIM:203400
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Abnormal circulating protein concentration, Fever, Anemia of inadequate p...	ORPHA:86839
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2	Optic disc pallor, Optic atrophy, Visual impairment	OMIM:617086
Infantile-Onset Spinocerebellar Ataxia	Abnormality of the autonomic nervous system, Optic atrophy	ORPHA:1186
Idiopathic Congenital Hypothyroidism	Lethargy, Constipation, Neonatal hyperbilirubinemia, Hypothermia	ORPHA:95717
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Hyperuricemia	OMIM:609886
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona...	OMIM:617087
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Macular degeneration, Choroidal neovascularization	ORPHA:404451
Sarcosinemia	Congenital blindness, Optic atrophy	ORPHA:3129
Cataract 11, Multiple Types	Blindness	OMIM:610623
Severe Canavan Disease	Blindness, Optic atrophy	ORPHA:314911
Cone-Rod Dystrophy And Hearing Loss 2	Photophobia, Reduced visual acuity	OMIM:618358
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology, Severely reduced visual acuity	ORPHA:65
Retinitis Pigmentosa 74	Optic disc pallor, Constriction of peripheral visual field, Reduced visual acuity, Pigmentary ret...	OMIM:616562
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615986
Leukoencephalopathy With Ataxia	Choroidal neovascularization, Optic neuropathy, Chorioretinal atrophy, Visual field defect, Retin...	OMIM:615651
Malignant Hyperthermia, Susceptibility To, 2	Fever, Elevated circulating creatine kinase concentration, Hyperkalemia, Malignant hyperthermia, ...	OMIM:154275
Spastic Paraplegia 15, Autosomal Recessive	Peripheral axonal neuropathy, Reduced visual acuity, Macular degeneration, Visual impairment, Ret...	OMIM:270700
Neuroleptic Malignant Syndrome	Hyponatremia, Fever, Elevated circulating creatine kinase concentration, Hypothermia, Pulmonary e...	ORPHA:94093
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Reduced visual acuity, Optic disc pallor, Rod-cone dystrophy, Macular atrophy	OMIM:615434
Wolfram Syndrome, Mitochondrial Form	Blindness, Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:598500
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Lactic Acidosis, Chronic Adult Form	Hyperuricemia	OMIM:150170
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cone/cone-rod dystrophy, Visual loss, Optic atrophy, Retinal degeneration	OMIM:249270
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Macular atrophy, Optic atrophy, Retinopathy, Visual impairment	OMIM:616171
Congenital Enterovirus Infection	Respiratory distress, Fever, Abnormal macrophage morphology, Hypothermia, Leukocytosis, Hyperammo...	ORPHA:292
Leber Optic Atrophy	Optic neuropathy, Visual loss, Central retinal vessel vascular tortuosity, Optic atrophy, Leber o...	OMIM:535000
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Phosphoribosylpyrophosphate Synthetase Superactivity	Ataxia, Hyperuricemia	ORPHA:3222
Spastic Paraplegia 11, Autosomal Recessive	Macular degeneration, Retinal degeneration	OMIM:604360
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Optic atrophy	ORPHA:1538
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Macular coloboma, Abnormal auditory evoked potentials, Macular atrophy, Geogra...	OMIM:619260
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Ataxia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:613839
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Small for gestational age, Elevated circulating creatine kinase concentration, Hypothermia, Normo...	OMIM:618775
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Achromatopsia 3	Moderately reduced visual acuity, Monochromacy, High myopia, Photophobia, Dyschromatopsia, Severe...	OMIM:262300
Aceruloplasminemia	Retinal degeneration	OMIM:604290
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Abnormality of retinal pigmentation, Myopia, Abnormal chorioretinal morphology, Visual loss, Nyct...	ORPHA:5
Gaisböck Syndrome	Hypertriglyceridemia, Overweight, Splenomegaly, Dyspnea, Increased mean corpuscular hemoglobin co...	ORPHA:90041
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Increased circulating corticosterone level, Hyperkalemia, Increased circulating ren...	OMIM:610600
Developmental And Epileptic Encephalopathy 16	Visual loss, Optic atrophy	OMIM:615338
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy, Apneic episodes in infancy, Hypothermia	OMIM:610006
Glycogen Storage Disease V	Hyperuricemia, Elevated circulating creatine kinase concentration	OMIM:232600
Osteoporosis-Pseudoglioma Syndrome	Retinal detachment, Moderately reduced visual acuity, Visual acuity light perception with project...	ORPHA:2788
Malignant Hyperthermia, Susceptibility To, 3	Fever, Elevated circulating creatine kinase concentration, Hyperkalemia, Malignant hyperthermia, ...	OMIM:154276
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Acute Adrenal Insufficiency	Normocytic anemia, Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Diarrhea, H...	ORPHA:95409
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Visual impairment, Optic atrophy, Chorioretinal coloboma	ORPHA:1473
Autosomal Recessive Spastic Paraplegia Type 57	Optic atrophy, Abnormality of peripheral nerve conduction	ORPHA:431329
Immunodeficiency 69	Fever, Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Di...	OMIM:618963
Albinism, Ocular, Type I	Hypoplasia of the fovea, Ocular albinism, Reduced visual acuity, Depigmented fundus, Photophobia	OMIM:300500
Hypobetalipoproteinemia, Familial, 1	Rod-cone dystrophy, Retinal degeneration	OMIM:615558
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease	Papilledema, Retinal arteriolar constriction	OMIM:124950
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Neonatal respiratory distress, Hypothermia, Respiratory insufficiency, Respiratory failure, Hyper...	OMIM:245400
Spinocerebellar Ataxia, Autosomal Recessive 29	Retinal pigment epithelial mottling, Peripheral axonal neuropathy, Optic disc pallor	OMIM:619389
Salt And Pepper Developmental Regression Syndrome	Visual loss, Optic atrophy, Cerebral visual impairment	OMIM:609056
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Diarrhea, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Vomi...	OMIM:177735
Congenital Disorder Of Glycosylation With Defective Fucosylation 2	Optic atrophy, Visual impairment, Cerebral visual impairment	OMIM:618324
Leukodystrophy, Hypomyelinating, 14	Blindness	OMIM:617899
Retinal Dystrophy With Or Without Extraocular Anomalies	Retinal dystrophy, Reduced visual acuity	OMIM:617175
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy	Blindness	OMIM:607674
Sjögren-Larsson Syndrome	Retinopathy, Macular degeneration, Abnormality of retinal pigmentation	ORPHA:816
Primary Erythromelalgia	Leukemia, Hypothermia	ORPHA:90026
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Nyctalopia	OMIM:277350
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Peripheral axonal neuropathy, Blindness, Visual loss, Optic atrophy, Progressive visual loss, Vis...	OMIM:601338
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Macrophthalmia, Colobomatous, With Microcornea	Myopia, Macular atrophy, Optic disc coloboma, Reduced visual acuity, Chorioretinal coloboma	OMIM:602499
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Sinusitis, Hypouricemia, Pneumonia, Pure red cell aplasia, Autoimmun...	OMIM:613179
Glaucoma, Primary Closed-Angle	Increased cup-to-disc ratio, Visual field defect	OMIM:618880
Distal 16P11.2 Microdeletion Syndrome	Chronic constipation, Hyperuricemia, Obesity	ORPHA:261222
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Large central visual field defect, Blindness, Visual loss, Pigmentary retinopa...	ORPHA:79264
Hyperchlorhidrosis, Isolated	Hyponatremia, Failure to thrive, Hyperkalemia	OMIM:143860
Stickler Syndrome, Type V	Retinal detachment, Vitreoretinopathy, High myopia	OMIM:614284
Retinal Arteries, Tortuosity Of	Retinal arteriolar tortuosity, Visual loss, Photophobia, Retinal hemorrhage	OMIM:180000
Corneal Dystrophy, Epithelial Basement Membrane	Reduced visual acuity	OMIM:121820
Madras Motor Neuron Disease	Reduced visual acuity, Optic atrophy, Facial palsy, Visual impairment	ORPHA:137867
Aniridia 2	Optic atrophy, Amblyopia	OMIM:617141
Alg6-Cdg	Rod-cone dystrophy, Retinal degeneration	ORPHA:79320
Ceroid Lipofuscinosis, Neuronal, 10	Rod-cone dystrophy, Retinal atrophy	OMIM:610127
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Nyctalopia, Myopia	ORPHA:1390
Glycogen Storage Disease Due To Aldolase A Deficiency	Fever, Hemolytic anemia, Elevated creatine kinase after exercise, Hyperkalemia	ORPHA:57
Neuroectodermal Melanolysosomal Disease	Myopia, Optic atrophy, Abnormal optic nerve morphology, Macular dystrophy, Aplasia/Hypoplasia of ...	ORPHA:33445
Glaucoma 3, Primary Congenital, E	Increased cup-to-disc ratio	OMIM:617272
Morgagni-Stewart-Morel Syndrome	Hypercholesterolemia, Hyperuricemia, Obesity	ORPHA:77296
Congenital Primary Aphakia	Abnormality of vision, Retinal dysplasia	ORPHA:83461
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Camos Syndrome	Optic atrophy	ORPHA:83472
Coenzyme Q10 Deficiency, Primary, 5	Hyperalaninemia, Hypothermia, Respiratory insufficiency	OMIM:614654
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Hyperkalemic Periodic Paralysis	Hyponatremia, Elevated circulating creatine kinase concentration, Bowel incontinence, Hyperkalemi...	ORPHA:682
Usher Syndrome Type 3	Scotoma, Visual loss, Nyctalopia, Hemianopia, High hypermetropia	ORPHA:231183
Myopia 22, Autosomal Dominant	Reduced visual acuity, High myopia	OMIM:615420
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Diarrhea, Hyperkalemia, Hyperaldosteronism, Vomiting, Failure to thrive	OMIM:264350
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Dopamine Beta-Hydroxylase Deficiency	Hypothermia, Dyspnea, Diarrhea, Elevated circulating creatinine concentration, Rhinitis, Vomiting...	ORPHA:230
Familial Thyroid Dyshormonogenesis	Hypothermia, Constipation, Lethargy, Abnormal circulating thyroglobulin level, Neonatal hyperbili...	ORPHA:95716
Infantile Refsum Disease	Constriction of peripheral visual field, Facial palsy, Nyctalopia, Optic atrophy, Rod-cone dystro...	ORPHA:772
Striatonigral Degeneration, Infantile	Optic atrophy	OMIM:271930
X-Linked Spinocerebellar Ataxia Type 3	Optic atrophy	ORPHA:85297
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Increased circulating reni...	ORPHA:556030
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism...	ORPHA:171876
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Myopia 23, Autosomal Recessive	Reduced visual acuity, Visual impairment, High myopia	OMIM:615431
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Myopia, Optic atrophy	OMIM:613151
Cln3 Disease	Blindness, Bull's eye maculopathy, Amblyopia, Optic atrophy, Pigmentary retinopathy, Progressive ...	ORPHA:228346
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Retinal coloboma, Macular coloboma, Interrupted aortic arch, Coarctation of aorta	OMIM:107550
Meningococcal Meningitis	Fever, Neonatal respiratory distress, Projectile vomiting, Elevated circulating C-reactive protei...	ORPHA:33475
Leber Optic Atrophy And Dystonia	Visual loss, Optic atrophy, Leber optic atrophy	OMIM:500001
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Optic atrophy, Visual impairment	ORPHA:1528
Beta-Thalassemia	Abnormality of temperature regulation, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Resp...	ORPHA:848
Musk, Inability To Smell	Blindness	OMIM:254150
Cancer-Associated Retinopathy	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Constriction of periphera...	ORPHA:71505
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Fever, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen...	ORPHA:300298
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium	ORPHA:1433
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Rod-cone dystr...	OMIM:615994
Idiopathic Intracranial Hypertension	Papilledema, Scintillating scotoma, Diplopia, Visual loss, Photophobia, Blurred vision	ORPHA:238624
Merrf	Optic atrophy	ORPHA:551
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Blindness, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:216866
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia	OMIM:604367
Senior-Loken Syndrome 9	Macular degeneration, Rod-cone dystrophy, Retinal dystrophy	OMIM:616629
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
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
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Diarrhea, Apnei...	ORPHA:348
Leukoencephalopathy With Vanishing White Matter 1	Blindness, Optic atrophy	OMIM:603896
Addison Disease	Normocytic anemia, Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Thiamine-re...	ORPHA:85138
Peroxisome Biogenesis Disorder 9B	Constriction of peripheral visual field, Rod-cone dystrophy, Reduced visual acuity, Nyctalopia	OMIM:614879
Progressive Myoclonic Epilepsy With Dystonia	Optic atrophy, Poor visual behavior for age	ORPHA:352596
Canavan Disease	Blindness, Optic atrophy, Visual impairment	OMIM:271900
Lesch-Nyhan Syndrome	Megaloblastic anemia, Choreoathetosis, Vomiting, Hyperuricemia, Dysphagia	OMIM:300322
Carnitine-Acylcarnitine Translocase Deficiency	Sudden episodic apnea, Hypothermia, Elevated circulating acylcarnitine concentration, Respiratory...	ORPHA:159
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Vomiting	OMIM:620126
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
Norrie Disease	Retinal detachment, Blindness, Optic atrophy, Retinal dysplasia, Retinal fold	OMIM:310600
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Refsum Disease, Classic	Rod-cone dystrophy, Retinal degeneration	OMIM:266500
Craniodiaphyseal Dysplasia, Autosomal Dominant	Papilledema, Facial diplegia, Optic atrophy, Progressive visual loss	OMIM:122860
Krabbe Disease	Decreased nerve conduction velocity, Blindness, Optic atrophy, Peripheral demyelination	OMIM:245200
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Constriction of peripheral visual field, Optic atrophy, Abno...	ORPHA:1215
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth	Optic atrophy	OMIM:619323
Usher Syndrome Type 1	Scotoma, Visual loss, Nyctalopia, Hemianopia, High hypermetropia	ORPHA:231169
Lamb-Shaffer Syndrome	Myopia, Optic atrophy	OMIM:616803
Hereditary Fructose Intolerance	Diarrhea, Hypermagnesemia, Vomiting, Hyperuricemia, Constipation, Hypophosphatemia, Lethargy, Nausea	ORPHA:469
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Pontocerebellar Hypoplasia Type 10	Optic atrophy, Visual impairment	ORPHA:411493
Intellectual Developmental Disorder, X-Linked 101	Optic atrophy	OMIM:300928
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Constriction of peripheral visual field, Patchy atrophy of the retinal pigment epithelium, Progre...	ORPHA:436245
Coloboma, Ocular, Autosomal Recessive	Optic disc coloboma, Retinal coloboma, Reduced visual acuity	OMIM:216820
Developmental And Epileptic Encephalopathy 78	Inability to walk, Hypothermia	OMIM:618557
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma	OMIM:212550
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Peripheral axonal neuropathy, Optic atrophy	ORPHA:320360
Yoon-Bellen Neurodevelopmental Syndrome	Optic atrophy, Visual impairment	OMIM:619701
Senior-Loken Syndrome 4	Severely reduced visual acuity, Rod-cone dystrophy, Amblyopia	OMIM:606996
Leukoencephalopathy With Vanishing White Matter 2	Optic atrophy	OMIM:620312
Familial Hypoaldosteronism	Hyponatremia, Diarrhea, Hyperkalemia, Increased circulating renin level, Lethargy, Failure to thr...	ORPHA:427
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Leukopenia, Neutropenia, Hy...	ORPHA:811
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:609260
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome	Optic disc pallor, Cerebral visual impairment, Optic atrophy, Reduced visual acuity, Visual field...	OMIM:615722
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Optic atrophy, Cerebral visual impairment	ORPHA:477814
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Retinal degeneration	ORPHA:542306
Albinism, Oculocutaneous, Type Ii	Hypoplasia of the fovea, Myopia, Reduced visual acuity, Hypopigmentation of the fundus, Visual im...	OMIM:203200
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Hyperuricemia, Hyperlipidemia, Epistaxis	ORPHA:35909
Renal Coloboma Syndrome	Myopia, Optic disc coloboma, Optic nerve dysplasia, Retinal coloboma, Visual impairment	ORPHA:1475
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration, Malignant hy...	OMIM:145600
Mitochondrial Complex I Deficiency, Nuclear Type 34	Optic disc pallor, Optic atrophy	OMIM:618776
Spinocerebellar Ataxia, Autosomal Recessive 3	Blindness	OMIM:271250
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Leukoencephalopathy With Vanishing White Matter 4	Optic atrophy	OMIM:620314
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr...	ORPHA:231226
Schindler Disease, Type I	Optic atrophy, Cerebral visual impairment	OMIM:609241
Pparg-Related Familial Partial Lipodystrophy	Splenomegaly, Hypertriglyceridemia, Hyperuricemia	ORPHA:79083
Osteopetrosis, Autosomal Recessive 9	Elevated circulating creatinine concentration, Hyperkalemia, Anemia	OMIM:620366
Fuchs Heterochromic Iridocyclitis	Papilledema, Optic disc pallor, Retinal perforation, Vitreous floaters, Epiretinal membrane, Redu...	ORPHA:263479
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase	Hyperuricemia	OMIM:240000
Cataract 21, Multiple Types	Retinal detachment, Macular hypoplasia, High myopia	OMIM:610202
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Fever, Hypoventilation, Abnormality of temperature regulation, Hypothermia, Inability to walk, Un...	OMIM:618493
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Macular degeneration	OMIM:619780
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Hyperuricemia	OMIM:162000
Juvenile Paget Disease	Hyperuricemia	ORPHA:2801
Pontocerebellar Hypoplasia, Type 1E	Optic atrophy	OMIM:619303
Hsd10 Disease, Infantile Type	Blindness, Visual loss, Optic atrophy, Rod-cone dystrophy, Retinal degeneration	ORPHA:391428
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated circulating alpha-fetoprotein concentration, Hypothermia, Splenomegaly, Hypoalbuminemia,...	OMIM:251880
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Blindness	OMIM:204850
Joubert Syndrome 6	Blindness, Retinal degeneration, Chorioretinal coloboma	OMIM:610688
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr...	ORPHA:231214
Non-24-Hour Sleep-Wake Syndrome	Blindness	ORPHA:73267
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome	Optic atrophy	ORPHA:1171
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c...	OMIM:120200
Spinocerebellar Ataxia Type 7	Cone/cone-rod dystrophy, Blindness, Visual loss, Reduced visual acuity, Abnormal fundus morpholog...	ORPHA:94147
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia	Peripheral axonal neuropathy, Optic atrophy	OMIM:620221
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Optic atrophy, Peripheral visual fiel...	OMIM:268315
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Alstrom Syndrome	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Asthma, Recurrent pneumonia, Trunc...	OMIM:203800
Cofs Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Visual impairment	ORPHA:1466
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level	OMIM:620125
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Epistaxis, Chronic neutropenia, Hyperlipidemia, Diarrhea, Enterocolitis, Ul...	ORPHA:79259
Renal Hypoplasia, Bilateral	Hyponatremia, Neonatal respiratory distress, Small for gestational age, Hyperkalemia, Lethargy, F...	ORPHA:97362
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy	Peripheral axonal neuropathy, Optic atrophy	OMIM:617207
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Optic atrophy	OMIM:619052
Non-Specific Early-Onset Epileptic Encephalopathy	Optic atrophy, Retinal degeneration	ORPHA:442835
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Apnea, Hypothermia, Cardiorespiratory arrest, Stridor, Bronchospasm, Gastroesophageal reflux, Abn...	OMIM:608800
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia, Apnea, Vomiting	OMIM:240200
Glycosylphosphatidylinositol Biosynthesis Defect 15	Myopia, Optic atrophy, Visual impairment	OMIM:617810
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Ocular albinism, Reduced visual acu...	ORPHA:79435
Osteopetrosis, Autosomal Recessive 8	Visual loss, Optic atrophy, Facial palsy	OMIM:615085
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Hypomethioninemia, Methylmalonic acidemia, Ataxia, Hypothermia, Pulmonary e...	ORPHA:79282
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Constipation, Hypothermia, Large for gestational age	ORPHA:226313
Usher Syndrome	Abnormality of retinal pigmentation, Blindness, Myopia, Nyctalopia, Visual field defect, Progress...	ORPHA:886
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Ataxia, Dyspnea, Anemia, Leukopenia, Interstitial pneumonitis, Increased mean co...	OMIM:127550
Night Blindness, Congenital Stationary, Type 1A	Congenital stationary night blindness, Hemeralopia, High myopia	OMIM:310500
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Retinal arteriolar constriction, Optic atrophy	OMIM:249660
Genetic Transient Congenital Hypothyroidism	Lethargy, Constipation, Increased circulating thyroglobulin level, Hypothermia	ORPHA:226316
Albers-Schönberg Osteopetrosis	Blindness, Optic atrophy, Facial palsy, Visual impairment	ORPHA:53
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Visual impairment, Reduced visual acuity, Retinal degeneration	OMIM:615249
Lethal Ataxia With Deafness And Optic Atrophy	Abnormal erythrocyte enzyme level, Respiratory failure requiring assisted ventilation, Hypouricem...	ORPHA:1187
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Retinal degeneration	OMIM:615630
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Gastroesophageal reflux, Abnormal pattern of respiration, Hypothermia	ORPHA:168593
Timothy Syndrome	Pulmonary arterial hypertension, Hypocalcemia, Pneumonia, Hypothermia	OMIM:601005
Congenital Muscular Dystrophy, Fukuyama Type	Myopia, Optic atrophy, Retinal dysplasia, Visual impairment	ORPHA:272
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Decreased nerve conduction velocity, Optic atrophy, Cerebral atrophy, Neurode...	OMIM:256600
Pyruvate Dehydrogenase E2 Deficiency	Retinal degeneration	ORPHA:79244
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects	Exudative vitreoretinopathy, Optic atrophy, Hypermetropia	OMIM:615075
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt...	ORPHA:231401
Riboflavin Transporter Deficiency	Optic disc pallor, Facial palsy, Abnormality of macular pigmentation, Abnormal autonomic nervous ...	ORPHA:97229
Nephronophthisis 11	Retinal degeneration	OMIM:613550
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Ataxia, Autoimmune thrombocytopenia, Abnormal T cell m...	ORPHA:760
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom...	ORPHA:231222
Craniodiaphyseal Dysplasia	Optic atrophy	ORPHA:1513
Multiple Mitochondrial Dysfunctions Syndrome 6	Visual loss, Optic atrophy	OMIM:617954
Senior-Loken Syndrome 8	Retinal dystrophy, Macular atrophy, Reduced visual acuity, Rod-cone dystrophy, Visual impairment	OMIM:616307
Intermediate Uveitis	Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, Reduced visual acuity, Macul...	ORPHA:279914
Leukodystrophy, Hypomyelinating, 19, Transient Infantile	Myopia, Optic atrophy	OMIM:618688
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Macular degeneration	ORPHA:284289
Axial Spondylometaphyseal Dysplasia	Retinal dystrophy, Peripheral retinal degeneration, Amblyopia, Optic atrophy, Reduced visual acui...	ORPHA:168549
Immunoneurologic Disorder, X-Linked	Nyctalopia	OMIM:300076
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Hyperactivity, Patent foramen ovale, Attention deficit hyperactivity disorder	OMIM:617182
Mucolipidosis Iii Alpha/Beta	Retinopathy, Retinal degeneration	OMIM:252600
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation, Nyctalopia, Visual impairment	ORPHA:96
Spinocerebellar Ataxia, Autosomal Recessive 28	Myopia, Optic atrophy	OMIM:618800
Coats Disease	Exudative retinal detachment, Retinal telangiectasia	OMIM:300216
Isolated Thyroid-Stimulating Hormone Deficiency	Failure to thrive, Hypothermia, Constipation, Hypercholesterolemia, Abnormal circulating thyroglo...	ORPHA:90674
Pantothenate Kinase-Associated Neurodegeneration	Blindness, Bull's eye maculopathy, Nyctalopia, Optic atrophy, Peripheral visual field loss, Visua...	ORPHA:157850
Cataract 48	Reduced visual acuity, Amblyopia	OMIM:618415
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Visual loss, Nyctalopia, Axonal degeneration, Pigmentary...	ORPHA:88628
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Nyctalopia, Optic atrophy, Sensory axonal neuropathy	ORPHA:99947
Pseudoxanthoma Elasticum	Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of the fundus, Optic disc druse...	OMIM:264800
Xanthinuria, Type Ii	Increased circulating hypoxanthine concentration, Hypouricemia, Hyperxanthinemia	OMIM:603592
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:617113
Sturge-Weber Syndrome	Retinal detachment, Blindness, Abnormal retinal vascular morphology, Optic atrophy, Abnormality o...	ORPHA:3205
Primary Angiitis Of The Central Nervous System	Abnormal visual field test, Diplopia, Reduced visual acuity, Pseudopapilledema, Amaurosis fugax, ...	ORPHA:140989
Diamond-Blackfan Anemia	Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R...	ORPHA:124
Paget Disease Of Bone 5, Juvenile-Onset	Failure to thrive, Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia	OMIM:239000
Methanol Poisoning	Blindness, Abnormal optic nerve morphology, Visual impairment, Blurred vision	ORPHA:31825
Corneal Dystrophy, Meesmann, 1	Photophobia, Reduced visual acuity	OMIM:122100
Mirage Syndrome	Hyponatremia, Chronic diarrhea, Hyperkalemia, Anemia, Leukopenia, Gastroesophageal reflux, Aspira...	OMIM:617053
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia, Anemia	OMIM:174000
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Tachypnea, Hypothermia	OMIM:616501
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Optic atrophy, Reduced visual acuity	ORPHA:466794
Arts Syndrome	Visual loss, Optic atrophy	OMIM:301835
Wildervanck Syndrome	Pseudopapilledema	OMIM:314600
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Myopia, Optic atrophy	OMIM:248000
Spastic Paraplegia 75, Autosomal Recessive	Optic atrophy, Reduced visual acuity, Hypermetropia	OMIM:616680
X-Linked Intellectual Disability, Najm Type	Myopia, Optic nerve hypoplasia, Optic atrophy, Chorioretinal coloboma, Visual impairment	ORPHA:163937
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Combined Oxidative Phosphorylation Deficiency 37	Hypothermia, Respiratory insufficiency, Respiratory failure, Hypoalbuminemia, Hyperalaninemia, Fa...	OMIM:618329
Marburg Hemorrhagic Fever	Fever, Lymphopenia, Reticulocytosis, Elevated circulating creatine kinase concentration, Hyperamy...	ORPHA:99826
Menkes Disease	Decreased circulating ceruloplasmin concentration, Hypothermia	OMIM:309400
Autosomal Recessive Progressive External Ophthalmoplegia	Abnormal retinal morphology, Facial palsy, Optic atrophy, Optic neuritis, Dyschromatopsia, Sensor...	ORPHA:254886
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Blindness, Hyaloid vascular remnant and retrolental ma...	ORPHA:91495
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Osteopetrosis, Autosomal Recessive 4	Optic disc pallor, Optic atrophy, Facial palsy, Visual impairment	OMIM:611490
Corneal Dystrophy And Perceptive Deafness	Reduced visual acuity	OMIM:217400
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Blindness	OMIM:614514
Microcephaly, Amish Type	Hypoplasia of the fovea, Optic atrophy, Cerebral visual impairment	OMIM:607196
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Failure to thrive, Hyperkalemia	OMIM:614736
Thiamine-Responsive Megaloblastic Anemia Syndrome	Visual loss, Optic atrophy, Retinal dystrophy	ORPHA:49827
Late Infantile Neuronal Ceroid Lipofuscinosis	Myopia, Blindness, Visual loss, Reduced visual acuity, Retinal degeneration	ORPHA:168491
Primary Familial Polycythemia	Epistaxis, Abnormal hemoglobin, Dyspnea, Cough, Polycythemia, Exertional dyspnea	ORPHA:90042
Cohen Syndrome	Myopia, Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Bull's eye maculopathy,...	OMIM:216550
Birk-Landau-Perez Syndrome	Neonatal respiratory distress, Failure to thrive in infancy, Hyperkalemia, Limb ataxia, Choreoath...	OMIM:617595
Antiphospholipid Syndrome, Familial	Retinal detachment, Visual loss, Vitritis, Central retinal artery occlusion, Retinal vasculitis, ...	OMIM:107320
Pseudoxanthoma Elasticum, Forme Fruste	Medial calcification of large arteries, Premature occlusive vascular stenosis, Medial calcificati...	OMIM:177850
Uveal Melanoma	Retinal detachment, Metamorphopsia, Photopsia, Visual loss, Abnormal fundus morphology, Vitreous ...	ORPHA:39044
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Esophagitis, Neutropenia	OMIM:612562
Cednik Syndrome	Abnormality of vision, Optic atrophy, Abnormality of peripheral nerve conduction	ORPHA:66631
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome	Optic atrophy, Visual impairment	ORPHA:1154
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Hypothermia, Constipation, Lethargy, Neonatal hyperbil...	ORPHA:90673
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Decreased motor nerve conduction velocity, Optic disc pallor, Central scotoma, Optic atrophy, Slo...	OMIM:601152
Alpers-Huttenlocher Syndrome	Abnormality of vision, Blindness	ORPHA:726
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Glycogen Storage Disease Ib	Splenomegaly, Hyperlipidemia, Xanthelasma, Inflammation of the large intestine, Hyperuricemia, Ne...	OMIM:232220
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Myopia, Chorioretinal dysplasia, Chorioretinal lacunae, Optic atrophy, Reduce...	OMIM:152950
Oculocutaneous Albinism Type 1	Hypoplasia of the fovea, Amblyopia, Reduced visual acuity, Depigmented fundus, Photophobia, Abnor...	ORPHA:352731
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Blindness, Myopia, Optic nerve hypoplasia, Optic atrophy	ORPHA:370959
Mitochondrial Dna-Associated Leigh Syndrome	Fever, Apnea, Ataxia, Hypothermia, Dyspnea, Low plasma citrulline, Episodic respiratory distress,...	ORPHA:255210
Leukodystrophy, Hypomyelinating, 22	Optic disc pallor, Hypermetropia	OMIM:619328
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Blindness, Retinal dystrophy	ORPHA:713
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Ataxia, Hyperuricemia	ORPHA:411543
Myoclonus, Intractable, Neonatal	Optic disc pallor, Cerebral visual impairment	OMIM:617235
Hyperuricemia, Hprt-Related	Hyperuricemia	OMIM:300323
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocytosis, Leukocytosis, Tachypnea, Diar...	OMIM:618278
Werner Syndrome	Retinal degeneration, Premature arteriosclerosis	OMIM:277700
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Microphthalmia, Isolated 8	Retinal detachment, Retinal coloboma, Optic nerve hypoplasia, Hypoplastic optic chiasm	OMIM:615113
Aromatic L-Amino Acid Decarboxylase Deficiency	Apnea, Intermittent hypothermia, Diarrhea, Cardiorespiratory arrest, Choreoathetosis, Athetosis, ...	OMIM:608643
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy, Blindness, Reduced visual acuity	ORPHA:3208
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Mohr-Tranebjaerg Syndrome	Myopia, Constriction of peripheral visual field, Cerebral visual impairment, Reduced visual acuit...	OMIM:304700
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Optic Atrophy-Intellectual Disability Syndrome	Myopia, Optic disc hypoplasia, Optic nerve hypoplasia, Cerebral visual impairment, Amblyopia, Opt...	ORPHA:401777
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Apnea, Hypothermia	OMIM:614498
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Hyperactivity, Cardiomegaly, Aggressive behavior, Splenomegaly, Asymmetric septal h...	OMIM:252920
X-Linked Immunoneurologic Disorder	Nyctalopia	ORPHA:2571
Leukodystrophy, Hypomyelinating, 15	Amblyopia, Visual loss, Optic atrophy, Hypermetropia, Progressive visual loss	OMIM:617951
Refsum Disease	Abnormality of retinal pigmentation, Nyctalopia, Abnormality of vision, Progressive visual loss, ...	ORPHA:773
Developmental And Epileptic Encephalopathy 3	Abnormality of visual evoked potentials, Brain atrophy, Cerebral atrophy	OMIM:609304
Ethylene Glycol Poisoning	Ataxia, Gastritis, Nausea, Hypothermia, Tachypnea, Hyperkalemia, Episodic respiratory distress, V...	ORPHA:31826
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Pigmentary retinopathy, Blindness	OMIM:560000
Osteopetrosis, Autosomal Recessive 2	Cranial nerve compression, Facial paralysis, Optic atrophy, Blindness	OMIM:259710
Genetic Recurrent Myoglobinuria	Fever, Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Difficulty...	ORPHA:99845
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Bicarbonaturia, Vomiting, Hyperuricemia, Hyperbilirubinemia, Hypopho...	OMIM:229600
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Optic atrophy, Visual impairment	ORPHA:44
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Optic atrophy, Cerebral visual impairment	OMIM:618737
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Cystinuria	Hyperuricemia	ORPHA:214
Brown-Vialetto-Van Laere Syndrome 2	Visual loss, Optic atrophy, Facial palsy	OMIM:614707
Isolated Atp Synthase Deficiency	Blindness, Rod-cone dystrophy, Optic atrophy	ORPHA:254913
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Ataxia, Conjugated hyperbilirubinemia, Splenomegaly, Inability to walk, Hyperka...	OMIM:608885
Megalocornea	Retinal detachment, Reduced visual acuity	OMIM:309300
Intellectual Developmental Disorder, Autosomal Dominant 67	Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder	OMIM:619927
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Glycogen Storage Disease Ic	Cyclic neutropenia, Hyperlipidemia, Xanthelasma, Inflammation of the large intestine, Hyperuricem...	OMIM:232240
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume	OMIM:619774
Autosomal Recessive Spastic Paraplegia Type 44	Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Abnormality of soma...	ORPHA:320401
Microphthalmia, Isolated, With Coloboma 9	Reduced visual acuity, Retinal detachment, Macular coloboma, Visual impairment	OMIM:615145
Mitochondrial Complex I Deficiency, Nuclear Type 39	Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card...	OMIM:620135
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Hypercholesterolemia, Bone-marrow foam cells, Cachexia, Hyper...	ORPHA:275761
Sclerosteosis	Optic atrophy, Facial palsy	ORPHA:3152
Stickler Syndrome, Type I	Retinal detachment, Myopia, Blindness, Vitreoretinopathy, Membranous vitreous appearance, Retinal...	OMIM:108300
Glycogen Storage Disease Ia	Intermittent diarrhea, Hyperlipidemia, Hyperuricemia, Xanthelasma	OMIM:232200
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Nyctalopia, Peripheral visual field loss, Hypoautofluorescent retinal lesion, Rod-cone dystrophy,...	OMIM:250410
Hereditary Methemoglobinemia	Small for gestational age, Athetosis, Methemoglobinemia, Exertional dyspnea	ORPHA:621
Castleman Disease	Intestinal obstruction, Elevated circulating C-reactive protein concentration, Dyspnea, Weight lo...	ORPHA:160
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Joubert Syndrome 35	Nyctalopia, Rod-cone dystrophy, Progressive visual loss	OMIM:618161
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia, Dysphagia	ORPHA:261250
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Abnormality of visual evoked potentials, Optic disc pallor, Abnormal auditory evoked potentials	OMIM:617523
Cach Syndrome	Optic neuritis, Blindness, Optic atrophy	ORPHA:135
Null Syndrome	Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination, Abnormality of peri...	ORPHA:280234
Bardet-Biedl Syndrome 20	Papilledema, Constriction of peripheral visual field, Nyctalopia, Hypermetropia, Hemeralopia, Ret...	OMIM:619471
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Spastic Ataxia 4, Autosomal Recessive	Optic atrophy	OMIM:613672
Hyperostosis Cranialis Interna	Reduced visual acuity, Optic atrophy, Facial palsy	OMIM:144755
Nephronophthisis 2	Respiratory failure, Elevated circulating creatinine concentration, Hyperkalemia, Respiratory ins...	OMIM:602088
Triple A Syndrome	Visual impairment, Optic atrophy, Motor axonal neuropathy	ORPHA:869
Mitochondrial Complex I Deficiency, Nuclear Type 19	Optic atrophy, Cerebral visual impairment	OMIM:618241
Progressive Myoclonic Epilepsy Type 3	Abnormality of vision, Optic atrophy	ORPHA:263516
Infantile Neuronal Ceroid Lipofuscinosis	Visual loss, Blindness, Progressive visual field defects	ORPHA:79263
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Nyctalopia, Rod-cone dystrophy, Retinal degeneration, Visual field defect	ORPHA:166035
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Diarrhea, Xerostomia, Hematochezia, Hypokalemia, Vomiting, Hypocalcemia, Hypomagnesemia...	OMIM:175500
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Fever, Decreased circulating cortisol level, Pneumonia, Hyperkalemia, Vomiting, Fai...	ORPHA:90790
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy, Visual impairment	OMIM:252011
Eisenmenger Syndrome	Respiratory distress, Elevated circulating C-reactive protein concentration, Increased pulmonary ...	ORPHA:97214
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Hyperuricemia	ORPHA:411536
Developmental And Epileptic Encephalopathy 47	Optic disc pallor, Cerebral visual impairment, Attenuation of retinal blood vessels	OMIM:617166
Multiple Sulfatase Deficiency	Retinal degeneration	OMIM:272200
Infantile Neuroaxonal Dystrophy	Peripheral axonal neuropathy, Blindness, Optic atrophy, Diffuse axonal swelling, Abnormal autonom...	ORPHA:35069
Osteopetrosis, Autosomal Recessive 1	Blindness, Facial palsy, Optic atrophy, Facial paralysis, Visual impairment	OMIM:259700
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Fever, Pneumonia, Epistaxis, Hematemesis, Dyspnea, Leukocytosis, Diarrhea, ...	ORPHA:340
Lowry-Wood Syndrome	Pigmentary retinopathy, Nyctalopia, Peripheral visual field loss	OMIM:226960
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Blindness, Optic atrophy	ORPHA:95433
Mitochondrial Complex I Deficiency, Nuclear Type 7	Optic atrophy	OMIM:618229
Tay-Sachs Disease	Cherry red spot of the macula, Blindness	OMIM:272800
Ectopia Lentis Et Pupillae	Retinal detachment, High myopia	OMIM:225200
Pontocerebellar Hypoplasia Type 1	Degeneration of anterior horn cells, Peripheral axonal neuropathy, Optic atrophy, Progressive vis...	ORPHA:2254
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Maternal Uniparental Disomy Of Chromosome 2	Retinal degeneration	ORPHA:96179
Prune1-Related Neurological Syndrome	Retinopathy, Optic atrophy, Cerebral visual impairment	ORPHA:544469
Peroxisomal Acyl-Coa Oxidase Deficiency	Abnormality of visual evoked potentials, Optic atrophy	ORPHA:2971
Cinca Syndrome	Retrobulbar optic neuritis, Blindness, Pseudopapilledema, Visual impairment	ORPHA:1451
Spinocerebellar Ataxia With Epilepsy	Hemianopia, Optic atrophy, Sensory axonal neuropathy	ORPHA:254881
Spastic Paraplegia 2, X-Linked	Optic atrophy	OMIM:312920
Malignant Hyperthermia Of Anesthesia	Fever, Hypercapnia, Tachypnea, Hyperkalemia, Malignant hyperthermia, Hyperphosphatemia, Elevated ...	ORPHA:423
Linear Skin Defects With Multiple Congenital Anomalies 2	Optic disc pallor, Myopia, Visual impairment	OMIM:300887
Mitochondrial Complex I Deficiency, Nuclear Type 27	Optic atrophy	OMIM:618248
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Optic atrophy	ORPHA:352682
Severe X-Linked Intellectual Disability, Gustavson Type	Blindness, Optic atrophy	ORPHA:3078
Full Nf2-Related Schwannomatosis	Blindness, Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma...	ORPHA:637
Infantile Cerebellar-Retinal Degeneration	Optic atrophy, Retinal dystrophy	OMIM:614559
Aica-Ribosuria Due To Atic Deficiency	Congenital blindness, Optic atrophy	OMIM:608688
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Cerebral visual impairment, Visual loss, Central scotoma, Op...	ORPHA:52368
Hyperuricemic Nephropathy, Familial Juvenile, 3	Hyperuricemia	OMIM:614227
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Visual impairment	ORPHA:2518
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Central scotoma, Blindness, Optic atrophy, Visual impairment	ORPHA:543470
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Decreased nerve conduction velocity, Optic atrophy, Abnormal peripheral action potential amplitud...	ORPHA:457205
Phosphoribosylpyrophosphate Synthetase Superactivity	Small for gestational age, Ataxia, Hyperuricemia	OMIM:300661
Fuchs Endothelial Corneal Dystrophy	Visual loss, Nyctalopia, Reduced visual acuity	ORPHA:98974
Herpes Simplex Virus Stromal Keratitis	Blindness, Reduced visual acuity	ORPHA:137599
Medullary cystic kidney disease 2	Hyperuricemia	OMIM:603860
Diencephalic Syndrome	Optic atrophy	ORPHA:1672
Joubert Syndrome 30	Retinal dystrophy, Reduced visual acuity	OMIM:617622
Developmental And Epileptic Encephalopathy 61	Optic atrophy	OMIM:617933
Muscle-Eye-Brain Disease	Myopia, Optic atrophy, Visual impairment	ORPHA:588
Exercise-Induced Malignant Hyperthermia	Ataxia, Elevated circulating creatine kinase concentration, Crackles, Tachypnea, Hyperkalemia, Ma...	ORPHA:466650
Pseudohypoaldosteronism, Type Iia	Hyperkalemia	OMIM:145260
Bardet-Biedl Syndrome 1	Myopia, Bone spicule pigmentation of the retina, Retinal dystrophy, Aganglionic megacolon, Hypera...	OMIM:209900
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Hypothermia, Stridor, Constipation, Hyperbilirubinemia...	OMIM:218700
Leukodystrophy, Hypomyelinating, 6	Optic atrophy, Visual impairment	OMIM:612438
Familial Glucocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Diarrhea, Hyperkalemia, Weight loss, Constipa...	ORPHA:361
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Orthostatic Hypotension 1	Hypomagnesemia, Intermittent hypothermia, Increased blood urea nitrogen	OMIM:223360
Hypomagnesemia 3, Renal	Failure to thrive, Hyperuricemia, Hypomagnesemia	OMIM:248250
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Blindness	OMIM:250940
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Mitochondrial Complex I Deficiency, Nuclear Type 4	Blindness	OMIM:618225
Pontocerebellar Hypoplasia, Type 9	Peripheral axonal neuropathy, Optic atrophy, Cerebral visual impairment	OMIM:615809
Aceruloplasminemia	Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration	ORPHA:48818
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Optic disc pallor, Progressive visual loss, Visual impairment	ORPHA:1947
Corticosteroid-Binding Globulin Deficiency	Hypokalemia, Decreased circulating cortisol level, Anemia	OMIM:611489
Mepan Syndrome	Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Abnormality of visual evoked potentials	ORPHA:508093
Adult-Onset Autosomal Dominant Leukodystrophy	Ataxia, Hypothermia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Gait disturbance, Constipation, ...	ORPHA:99027
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Mitochondrial Complex I Deficiency, Nuclear Type 14	Optic atrophy	OMIM:618236
Alexander Disease	Ataxia, Bowel incontinence, Hypothermia, Respiratory insufficiency, Constipation, Gait disturbanc...	ORPHA:58
Pseudohypoaldosteronism Type 2	Hyperkalemia	ORPHA:757
Albinism, Oculocutaneous, Type Vii	Photophobia, High hypermetropia, Reduced visual acuity	OMIM:615179
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia	ORPHA:199296
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To	Nonarteritic anterior ischemic optic neuropathy	OMIM:258660
Spinocerebellar Ataxia, Autosomal Recessive 8	Peripheral axonal neuropathy, Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:610743
Joubert Syndrome With Oculorenal Defect	Blindness, Aganglionic megacolon, Retinal dystrophy, Chorioretinal coloboma, Visual impairment	ORPHA:2318
Deafness, Dystonia, And Cerebral Hypomyelination	Optic atrophy	OMIM:300475
Microphthalmia-Brain Atrophy Syndrome	Blindness	ORPHA:77299
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri...	OMIM:619827
Leukodystrophy, Hypomyelinating, 12	Reduced visual acuity, Optic atrophy, Abnormal autonomic nervous system physiology, Cerebral visu...	OMIM:616683
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Pulmon...	OMIM:620141
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Myopia, Optic atrophy, Visual impairment	ORPHA:529665
Developmental And Epileptic Encephalopathy 48	Optic disc pallor, Rod-cone dystrophy	OMIM:617276
Microcephaly 20, Primary, Autosomal Recessive	Blindness, Optic nerve hypoplasia	OMIM:617914
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Optic atrophy	ORPHA:254343
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Methylmalonic acidemia, Apnea, Hypothermia, Unsteady gait, Choreoathetosis,...	ORPHA:17
X-Linked Charcot-Marie-Tooth Disease Type 5	Abnormal nerve conduction velocity, Optic atrophy	ORPHA:99014
Cranioectodermal Dysplasia 4	Nyctalopia, Rod-cone dystrophy, Hypermetropia, Visual impairment	OMIM:614378
Spastic Paraplegia 85, Autosomal Recessive	Peripheral axonal neuropathy, Optic atrophy	OMIM:619686
Congenital Microcoria	Blindness, Axial myopia, Nyctalopia, Photophobia, Hemeralopia, Visual impairment, Blurred vision	ORPHA:566
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly	OMIM:300886
Cerebral Visual Impairment	Optic disc pallor, Optic nerve hypoplasia, Optic atrophy, Retinopathy of prematurity, Visual fiel...	ORPHA:447788
Attrv30M Amyloidosis	Cardiomyopathy, Cardiomegaly	ORPHA:85447
Optic Atrophy 11	Myopia, Optic nerve hypoplasia, Amblyopia, Optic atrophy, Hypermetropia, Facial diplegia, Cherry ...	OMIM:617302
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Neonatal asphyxia, Hyperkalemia, Increased ci...	ORPHA:90791
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Spastic Paraplegia 79B, Autosomal Recessive	Myopia, Visual loss, Optic atrophy, Opto-chiasmatic atrophy, Reduced visual acuity, Progressive v...	OMIM:615491
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ...	ORPHA:85167
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Fever, Acute colitis, Pneumonia, Dyspnea, Leukocytosis, Diarrhea,...	ORPHA:544482
Juvenile Polyposis Syndrome	Diarrhea, Hematochezia, Hypokalemia, Hypoalbuminemia, Failure to thrive, Anemia	OMIM:174900
Papillorenal Syndrome	Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio...	OMIM:120330
Usher Syndrome Type 2	Myopia, Scotoma, Visual loss, Nyctalopia, Hemianopia	ORPHA:231178
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion	Hypouricemia	OMIM:307830
Childhood-Onset Spasticity With Hyperglycinemia	Optic atrophy, Visual impairment	ORPHA:401866
Leukodystrophy, Hypomyelinating, 2	Decreased motor nerve conduction velocity, Myopia, Facial palsy, Optic atrophy, Sensory axonal ne...	OMIM:608804
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Abnorm...	ORPHA:485421
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Congenital Hydrocephalus	Optic atrophy, Macular hypoplasia	ORPHA:2185
Autosomal Dominant Optic Atrophy, Classic Form	Moderately reduced visual acuity, Morning glory anomaly, Central scotoma, Optic atrophy, Temporal...	ORPHA:98673
Momo Syndrome	Blindness, Retinal coloboma	OMIM:157980
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Increased serum prostaglandin E2, Hypokalemia, Vomiting, Increased circulating renin level, Abnor...	OMIM:241150
Combined Oxidative Phosphorylation Deficiency 7	Facial diplegia, Facial paralysis, Optic atrophy, Visual impairment	OMIM:613559
Friedreich Ataxia	Optic atrophy, Reduced visual acuity, Visual field defect, Decreased sensory nerve conduction vel...	OMIM:229300
Spinocerebellar Ataxia 13	Optic atrophy	OMIM:605259
Hypouricemia, Renal, 2	Hypouricemia	OMIM:612076
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Blindness, Optic atrophy, High myopia	OMIM:220500
Knobloch Syndrome	Retinal detachment, Myopia, Visual loss, Abnormal vitreous humor morphology, Macular degeneration...	ORPHA:1571
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Optic atrophy, Reduced visual acuity, Pigmentary retinopathy, Visual impairment	OMIM:617282
Developmental And Epileptic Encephalopathy 75	Optic disc pallor, Optic atrophy, Cerebral visual impairment	OMIM:618437
Wildervanck Syndrome	Pseudopapilledema, Facial palsy	ORPHA:3456
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Myopia, Retinal dystrophy, Chorioretinal...	ORPHA:2526
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia	OMIM:242050
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Large for gestational age, Hypouricemia, Hypophosphatemia	OMIM:616026
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Abnormality of visual evoked potentials	ORPHA:1389
Fanconi-Bickel Syndrome	Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent...	OMIM:227810
Peho Syndrome	Cerebellar atrophy, Neuronal loss in central nervous system, Optic atrophy, Undetectable visual e...	OMIM:260565
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Cerebellar atrophy, Corpus callosum atrophy, Optic atrophy, Cerebral atrophy, Brain atrophy, Abno...	OMIM:616875
Filippi Syndrome	Optic atrophy, Visual impairment	OMIM:272440
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Myopia, Nyctalopia, Rod-cone dystrophy, High myopia	OMIM:617763
Familial Atrial Myxoma	Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly	ORPHA:615
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors	ORPHA:101039
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Srd5A3-Cdg	Visual loss, Optic atrophy, Rod-cone dystrophy, Optic disc hypoplasia	ORPHA:324737
Autosomal Recessive Spastic Paraplegia Type 75	Temporal optic disc pallor, Hypermetropia	ORPHA:459056
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Retinal atrophy	ORPHA:412057
Hermansky-Pudlak Syndrome 6	Amblyopia, Ocular albinism, Reduced visual acuity, Absent foveal reflex, Photophobia, Macular hyp...	OMIM:614075
X-Linked Charcot-Marie-Tooth Disease Type 2	Decreased motor nerve conduction velocity, Optic disc pallor, Optic neuropathy, Slow decrease in ...	ORPHA:101076
Lamb-Shaffer Syndrome	Optic atrophy, Amblyopia, Cerebral visual impairment	ORPHA:530983
Beta-Propeller Protein-Associated Neurodegeneration	Optic atrophy, Abnormal autonomic nervous system physiology	ORPHA:329284
Developmental And Epileptic Encephalopathy 93	Optic atrophy, Hypermetropia	OMIM:618012
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Blindness, Decreased nerve conduction velocity, V...	ORPHA:206436
Cataract 17, Multiple Types	Reduced visual acuity, Amblyopia	OMIM:611544
Tbck-Related Intellectual Disability Syndrome	Hypothermia, Inability to walk, Asthma, Respiratory insufficiency, Abnormal circulating lipid con...	ORPHA:488632
Mitochondrial Complex I Deficiency, Nuclear Type 8	Optic disc pallor	OMIM:618230
Keratoconus 9	Reduced visual acuity	OMIM:617928
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Vomiting,...	ORPHA:411634
Apparent Mineralocorticoid Excess	Hypokalemia, Failure to thrive, Small for gestational age, Decreased circulating renin level	OMIM:218030
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Secretory diarrhea, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increased circu...	OMIM:214700
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy	OMIM:125310
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Optic atrophy, Cerebral visual impairment	ORPHA:79279
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Optic atrophy, Sensory axonal neuropathy, Motor axonal neuropathy	OMIM:609541
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Peripheral axonal neuropathy, Scotoma, Optic atrophy, Progressive visual loss, Visual impairment	OMIM:616505
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome	Myopia, Fundus atrophy, Optic atrophy	ORPHA:1970
Xfe Progeroid Syndrome	Blindness, Optic atrophy, Visual impairment, Attenuation of retinal blood vessels	OMIM:610965
Xq21 Microdeletion Syndrome	Abnormal chorioretinal morphology, Chorioretinal degeneration, Reticular pigmentary degeneration,...	ORPHA:1435
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Cockayne Syndrome	Ataxia, Cachexia, Splenomegaly, Inability to walk, Progressive gait ataxia, Gait disturbance, Hyp...	ORPHA:191
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity	Cherry red spot of the macula, Optic disc pallor	OMIM:615281
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Failure to thrive, Severe B lymphocytopenia, Decreased circulating cortisol level, ...	ORPHA:293978
Wilson Disease	Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Splenomegaly, ...	OMIM:277900
Pelizaeus-Merzbacher Disease	Abnormality of visual evoked potentials, Optic atrophy, Cerebral cortical atrophy	ORPHA:702
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Blindness	OMIM:618731
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1173
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Hypoventilation, Fever, Central hypoventilation, Hypothermia, Asthma, Hyperlipidemi...	ORPHA:293987
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Blindness	OMIM:236270
Hermansky-Pudlak Syndrome 8	Hypoplasia of the fovea, Optic disc pallor, Myopia, Moderate hypermetropia, Ocular albinism, Redu...	OMIM:614077
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies	Unilateral facial palsy, Rod-cone dystrophy, Optic atrophy, Cerebral visual impairment	OMIM:618547
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur...	ORPHA:320406
Aica-Ribosiduria	Congenital blindness	ORPHA:250977
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Blindness, Decreased nerve conduction velocity, V...	ORPHA:206443
Mannosidosis, Alpha B, Lysosomal	Retinal degeneration	OMIM:248500
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Visual loss, Macular degeneration, Abnormal autonomic nervous system physiology, Abnormal cranial...	ORPHA:247234
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia, Exertional dyspnea	OMIM:250800
Maternal Uniparental Disomy Of Chromosome 4	Nyctalopia, Optic atrophy, Visual field defect, Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:96180
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Myopia, Retinal atrophy, Blindness, Optic nerve hypoplasia, Optic atrophy, Re...	OMIM:236670
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Optic atrophy, Visual impairment	OMIM:616881
Congenital Bile Acid Synthesis Defect Type 1	Nyctalopia	ORPHA:79301
Pineoblastoma	Papilledema, Progressive visual field defects, Reduced visual acuity, Retinoblastoma, Amaurosis f...	ORPHA:251909
Sarcoidosis	Fever, Hemolytic anemia, Parotitis, Eosinophilia, Hypercalcemia, Hypothermia, Dyspnea, Increased ...	ORPHA:797
Osteootohepatoenteric Syndrome	Asthma, Secretory diarrhea, Weight loss, Hypokalemia, Increased serum bile acid concentration, Fa...	OMIM:619377
Corneal Dystrophy, Posterior Polymorphous, 4	Reduced visual acuity	OMIM:618031
Hermansky-Pudlak Syndrome 4	Hypoplasia of the fovea, Ocular albinism, Reduced visual acuity	OMIM:614073
Hereditary Renal Hypouricemia	Hypouricemia, Vomiting, Nausea, Increased blood urea nitrogen	ORPHA:94088
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, Weight loss, Respiratory...	ORPHA:79102
Vitamin K Antagonist Embryofetopathy	Optic atrophy, Visual impairment	ORPHA:1914
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Optic atrophy, Visual impairment	ORPHA:93262
Myopathy, Tubular Aggregate, 1	Nyctalopia	OMIM:160565
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Corpus callosum atrophy, Optic atrophy, Cerebral atrophy, Abnormality of visual evoked potentials...	ORPHA:480898
Peroxisome Biogenesis Disorder 4B	Retinal dystrophy, Decreased nerve conduction velocity, Optic atrophy, Rod-cone dystrophy, Visual...	OMIM:614863
Severe Oculo-Renal-Cerebellar Syndrome	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Visual ...	ORPHA:2715
Neuronal Intranuclear Inclusion Disease	Optic atrophy	ORPHA:2289
Sympathetic Ophthalmia	Retinal detachment, Papilledema, Vitreous floaters, Vitritis, Retinal hemorrhage, Reduced visual ...	ORPHA:79098
Cystinosis	Fever, Hypokalemia, Gait disturbance, Vomiting, Hypophosphatemia, Failure to thrive	ORPHA:213
Autosomal Recessive Spastic Paraplegia Type 11	Orthostatic hypotension, Atrophy of the spinal cord, Abnormality of pattern visual evoked potenti...	ORPHA:2822
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Thymoma	Fever, Aplastic anemia, Pure red cell aplasia, Dyspnea, Imbalanced hemoglobin synthesis, Ulcerati...	ORPHA:99867
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly	OMIM:600649
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Decreased nerve conduction velocity, Abnormality of visual evoked potentials	ORPHA:1933
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Respiratory distress, Pancytopenia, Neonatal respiratory distress, Small ...	OMIM:260400
Cholera	Hyponatremia, Fever, Diarrhea, Tachypnea, Abnormal blood ion concentration, Hypokalemia, Vomiting...	ORPHA:173
Oculocutaneous Albinism Type 1A	Hypoplasia of the fovea, Ocular albinism, Abnormal optic nerve morphology, Abnormality of visual ...	ORPHA:79431
Autosomal Recessive Spastic Paraplegia Type 55	Optic neuropathy, Optic atrophy, Reduced visual acuity, Decreased sensory nerve conduction veloci...	ORPHA:320375
Molybdenum Cofactor Deficiency, Complementation Group C	Hypocystinemia, Hypouricemia, Hypertaurinemia	OMIM:615501
Autosomal Dominant Optic Atrophy And Cataract	Blindness, Red-green dyschromatopsia, Central scotoma, Optic atrophy, Reduced visual acuity, Trit...	ORPHA:67036
Hyperaldosteronism, Familial, Type Ii	Hypokalemia, Hyperaldosteronism	OMIM:605635
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Myopia, Optic atrophy, Reduced visual acuity, Hypermetropia, Nonprogressive visual loss, Achromat...	OMIM:614800
Liddle Syndrome	Hypokalemia, Constipation	ORPHA:526
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Retinal degeneration	OMIM:618479
Pierson Syndrome	Retinal detachment, Blindness, Remnants of the hyaloid vascular system, Retinal hemorrhage, High ...	OMIM:609049
Papilloma Of Choroid Plexus	Papilledema	OMIM:260500
Colchicine Poisoning	Respiratory distress, Hyponatremia, Leukocytosis, Diarrhea, Abnormal blood ion concentration, Car...	ORPHA:31824
Ophthalmomandibulomelic Dysplasia	Blindness	ORPHA:2741
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Combined Oxidative Phosphorylation Defect Type 7	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Optic atrop...	ORPHA:254930
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Hypothermia, Overweight, Constipation, Lethargy, Abnormal circulating thyroglobulin level	ORPHA:226307
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Acquired Methemoglobinemia	Respiratory distress, Dyspnea, Hypoxemia, Vomiting, Methemoglobinemia	ORPHA:464453
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Optic atrophy, Abnormal autonomic nervous system physiology, Cerebral visual impairment	ORPHA:466934
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Photophobia, Optic disc pallor, Constriction of peripheral visual field, Reduced visual acuity	OMIM:618527
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-N-Acetylgalactosaminidase Deficiency	Blindness	ORPHA:3137
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Chromosome 19P13.13 Deletion Syndrome	Optic atrophy, Optic nerve hypoplasia	OMIM:613638
Coenzyme Q10 Deficiency, Primary, 2	Optic atrophy	OMIM:614651
Infantile Spasms-Broad Thumbs Syndrome	Optic disc pallor	ORPHA:3173
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypokalemia, Failure to thrive, Vomiting	OMIM:602722
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly	ORPHA:858
Achalasia-Addisonianism-Alacrima Syndrome	Abnormality of visual evoked potentials, Orthostatic hypotension, Optic atrophy, Abnormal autonom...	OMIM:231550
Ophthalmomandibulomelic Dysplasia	Blindness	OMIM:164900
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Optic atrophy, Hypoplastic optic chiasm, Cerebral visual impairment	OMIM:617669
Hermansky-Pudlak Syndrome 1	Photophobia, Severely reduced visual acuity, Ocular albinism, Blindness	OMIM:203300
Infantile Sialic Acid Storage Disease	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:269920
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Myopia, Peripheral axonal neuropathy, Optic atrophy, Optic nerve hypoplasia	ORPHA:496790
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ...	OMIM:300280
Kniest Dysplasia	Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, Vitreoretino...	ORPHA:485
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Acute colitis, Leukocytosis, Schistocytosis, Elevated circulating ...	ORPHA:90038
Neurooculocardiogenitourinary Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly	OMIM:618652
East Syndrome	Ataxia, Inability to walk, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Di...	ORPHA:199343
Hypouricemia, Renal, 1	Elevated circulating creatinine concentration, Hypouricemia	OMIM:220150
Hermansky-Pudlak Syndrome 7	Ocular albinism, Reduced visual acuity, Visual impairment	OMIM:614076
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Decreased nerve conduction velocity, Rod-cone dystrophy, Optic atrophy	OMIM:612674
Posterior Polymorphous Corneal Dystrophy	Very low visual acuity, Chorioretinal degeneration, Amblyopia, Reduced visual acuity, Photophobia...	ORPHA:98973
Familial Osteodysplasia, Anderson Type	Hyperuricemia	ORPHA:2769
Xq12-Q13.3 Duplication Syndrome	Abnormality of visual evoked potentials, Optic disc pallor	ORPHA:314389
Neurodevelopmental Disorder With Microcephaly, Hypotonia, Nystagmus, And Seizures	Optic atrophy, Cerebral visual impairment	OMIM:619876
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypoventilation, Broad-based gait, Apnea, Decreased serum iron, Breathing dysregulation, Hypother...	ORPHA:438213
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Cardiomegaly	OMIM:619064
Developmental And Speech Delay Due To Sox5 Deficiency	Myopia, Optic atrophy	ORPHA:313892
Isolated Complex I Deficiency	Optic disc pallor, Blindness, Optic neuropathy	ORPHA:2609
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Reduced visual acuity	OMIM:614195
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Visual impairment, Optic atrophy, Abnormality of peripheral ...	ORPHA:585
Mitochondrial Complex I Deficiency, Nuclear Type 18	Optic disc pallor	OMIM:618240
Woods Syndrome	Optic atrophy	OMIM:615236
Gm1 Gangliosidosis	Blindness, Abnormal retinal vascular morphology, Optic atrophy, Retinopathy of prematurity, Cherr...	ORPHA:354
Albinism, Oculocutaneous, Type Ia	Hypoplasia of the fovea, Myopia, Ocular albinism, Reduced visual acuity, Photophobia, Visual impa...	OMIM:203100
White-Sutton Syndrome	Myopia, Blindness, Optic atrophy, Hypermetropia, Rod-cone dystrophy, Visual impairment	ORPHA:468678
Lead Poisoning	Decreased HDL cholesterol concentration, Small for gestational age, Asthma, Imbalanced hemoglobin...	ORPHA:330015
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Abnormality of exocrine pancreas physiology, Hyperuricemia	ORPHA:93111
Mulibrey Nanism	Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly	OMIM:253250
Cln5 Disease	Cerebellar atrophy, Atrophy/Degeneration affecting the central nervous system, Corpus callosum at...	ORPHA:228360
Attrv122I Amyloidosis	Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R...	ORPHA:85451
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Optic disc pallor, Retinal dystrophy, Macular coloboma, Undetectable visual evoked potentials, Ap...	ORPHA:423479
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Abnormality of visual e...	OMIM:601455
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy	OMIM:212140
Pontocerebellar Hypoplasia, Type 2A	Optic atrophy, Visual impairment	OMIM:277470
Combined Oxidative Phosphorylation Deficiency 29	Retinopathy, Axonal degeneration, Optic atrophy, Optic neuropathy	OMIM:616811
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Hurler Syndrome	Retinal degeneration	OMIM:607014
Familial Hyperaldosteronism Type Ii	Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Dexamethasone-supp...	ORPHA:404
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614702
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Micro Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Retinal coloboma, Abnormality of visual evoke...	ORPHA:2510
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Abnormal retinal vascular morphology, Retinal neovascularization, Macul...	ORPHA:247691
Spastic Paraplegia Type 2	Optic atrophy	ORPHA:99015
Hereditary Xanthinuria	Hypouricemia, Hyperxanthinemia	ORPHA:3467
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Optic atrophy, Opto-chiasmatic atrophy, Visual impairment	OMIM:620089
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Atrial septal defect, Hyperactivity, Pulmonic stenosis	OMIM:619239
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor	OMIM:613730
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Pulmonic stenosis, Attention deficit hyperactivity disorder, Recurrent hand flappi...	OMIM:617600
Renal Cysts And Diabetes Syndrome	Elevated circulating creatinine concentration, Hyperuricemia, Exocrine pancreatic insufficiency	OMIM:137920
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:619051
Pyruvate Dehydrogenase E1-Alpha Deficiency	Blindness	ORPHA:79243
Stt3B-Cdg	Optic atrophy	ORPHA:370924
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F, Broad-based gait, Limb ataxia, Truncal ataxia	OMIM:617101
Hydranencephaly	Abnormality of vision, Blindness, Chorioretinal atrophy, Optic nerve hypoplasia	ORPHA:2177
Ectopic Aldosterone-Producing Tumor	Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Nausea, Decreased ...	ORPHA:231632
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Joubert Syndrome 5	Congenital blindness, Rod-cone dystrophy, Retinal coloboma, Reduced visual acuity	OMIM:610188
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Diplopia, Optic atrophy, Peripheral visual field loss, Visual impairment	OMIM:619259
Cryptococcosis	Blindness, Abnormal retinal morphology, Vitritis, Abnormality of vision, Abnormal optic nerve mor...	ORPHA:1546
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Failure to thrive, HbH hemoglobin, Microcytic anemia	ORPHA:98791
Stankiewicz-Isidor Syndrome	Abnormal optic disc morphology, Cerebral visual impairment	OMIM:617516
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Exudative retinopathy, Blindness, Optic atrophy, Retinal telangiectasia	OMIM:612199
Familial Hyperaldosteronism Type I	Hypokalemia, Dexamethasone-suppressible primary hyperaldosteronism, Epistaxis, Nausea	ORPHA:403
Rodrigues Blindness	Blindness	OMIM:268320
Sandhoff Disease	Cherry red spot of the macula, Orthostatic hypotension, Blindness	OMIM:268800
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Abnormality of visual evoked potentials, Brain atrophy	OMIM:614457
Hermansky-Pudlak Syndrome 11	Hypoplasia of the fovea, Photophobia, Ocular albinism, Reduced visual acuity	OMIM:619172
Fatty Acid Hydroxylase-Associated Neurodegeneration	Visual field defect, Optic atrophy, Color vision test abnormality, Slow decrease in visual acuity	ORPHA:329308
Aniridia 3	Reduced visual acuity	OMIM:617142
Congenital Disorder Of Glycosylation, Type Ix	Optic atrophy	OMIM:615597
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Optic atrophy, Increased cup-to-disc ratio, Cerebral visual impairment	ORPHA:500144
Gaucher Disease, Type I	Macular atrophy	OMIM:230800
Mucopolysaccharidosis Type 2	Papilledema, Abnormality of retinal pigmentation, Large central visual field defect, Abnormal fov...	ORPHA:580
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Retinal degeneration	OMIM:208500
Primary Fanconi Renotubular Syndrome	Hypouricemia, Bicarbonaturia, Hypophosphatemia, Weight loss, Hypokalemia, Decreased circulating c...	ORPHA:3337
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Ataxia, Elevated circulating uracil concentration, Hyperglutaminemia, Low plasma citrulline, Hype...	OMIM:311250
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Increased circulat...	ORPHA:231625
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Optic atrophy, Visual impairment	OMIM:300004
Abetalipoproteinemia	Abnormality of retinal pigmentation, Blindness, Scotoma, Nyctalopia, Progressive visual loss, Rod...	ORPHA:14
Beck-Fahrner Syndrome	Ventricular septal defect, Attention deficit hyperactivity disorder, Cardiomegaly	OMIM:618798
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Developmental Malformations-Deafness-Dystonia Syndrome	Blindness	ORPHA:79107
Dysosteosclerosis	Blindness, Facial paralysis, Optic atrophy	OMIM:224300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Retinal atrophy, Optic atrophy, Hypoplasia of the retina, Retinal dysplasia, Retinal degeneration	OMIM:253280
Neuraminidase Deficiency	Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly	OMIM:256550
Alport Syndrome	Renal glomerular foam cells, Macular degeneration, Retinal flecks, Abnormal aortic morphology, Ao...	ORPHA:63
Neurodegeneration With Brain Iron Accumulation 1	Pigmentary retinopathy, Optic atrophy, Retinal degeneration	OMIM:234200
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Abnormal circulating cholestero...	ORPHA:168558
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Overweight, Recurrent pneumonia, Gastroesophageal reflux	OMIM:619769
Mucopolysaccharidosis Type 3	Myopia, Blindness, Constriction of peripheral visual field, Nyctalopia, Optic atrophy, Pigmentary...	ORPHA:581
Metachromatic Leukodystrophy, Late Infantile Form	Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials	ORPHA:309256
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Reduced visual acuity, Photophobia,...	ORPHA:79432
Corneal Dystrophy, Reis-Bucklers Type	Photophobia, Reduced visual acuity	OMIM:608470
Adrenoleukodystrophy	Visual loss, Blindness	OMIM:300100
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Abnormal circulating cholestero...	ORPHA:289548
Tay-Sachs Disease	Cherry red spot of the macula, Blindness, Optic atrophy, Visual impairment	ORPHA:845
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Athetosis, Hypokalemia, Hyperaldosteronism, Dexamethasone-suppressible primary hyperal...	ORPHA:369929
Momo Syndrome	Blindness, Chorioretinal coloboma	ORPHA:2563
Mpdu1-Cdg	Undetectable visual evoked potentials, Optic atrophy	ORPHA:79323
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Respiratory paralysis, Mildly elevated creatine kinase	ORPHA:681
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy	OMIM:612291
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Macular hypoplasia, Reduced visual acuity	ORPHA:2334
Primary Unilateral Adrenal Hyperplasia	Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Nausea, Decreased ...	ORPHA:231580
Cerebrooculonasal Syndrome	Blindness	ORPHA:66625
Gelatinous Drop-Like Corneal Dystrophy	Photophobia, Reduced visual acuity, Blurred vision	ORPHA:98957
Cockayne Syndrome Type 3	Optic disc pallor, Retinal atrophy, Retinal dystrophy, Retinal hemorrhage, Aortic root aneurysm, ...	ORPHA:90324
Bartter Syndrome, Type 1, Antenatal	Fever, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestational a...	OMIM:601678
Aprosencephaly And Cerebellar Dysgenesis	Retinal dysplasia	OMIM:601374
Gitelman Syndrome	Ataxia, Hypokalemia, Increased circulating renin level, Vomiting, Constipation, Hypomagnesemia, F...	OMIM:263800
Metachromatic Leukodystrophy, Juvenile Form	Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials	ORPHA:309263
Apparent Mineralocorticoid Excess	Hypokalemia, Failure to thrive, Abnormality of circulating cortisol level, Decreased circulating ...	ORPHA:320
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Aganglionic megacolon, Myopia, Blindness, Optic atrophy	ORPHA:847
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Weight loss	OMIM:188580
Non-Functioning Pituitary Adenoma	Bitemporal hemianopia, Blindness, Diplopia, Hemianopia, Sudden loss of visual acuity, Heteronymou...	ORPHA:91349
Granular Corneal Dystrophy Type Ii	Reduced visual acuity, Visual impairment, Blurred vision	ORPHA:98963
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Cantu Syndrome	Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly	OMIM:239850
Familial Hyperaldosteronism Type Iii	Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Dexamethasone-supp...	ORPHA:251274
Hereditary Sensory And Autonomic Neuropathy Type 4	Hypothermia, Dysphagia, Difficulty walking, Unexplained fevers, Recurrent fever, Recurrent aspira...	ORPHA:642
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hypokalemia, Hyperamylasemia	OMIM:604278
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Prolactinoma	Bitemporal hemianopia, Blindness, Diplopia, Hemianopia, Sudden loss of visual acuity, Heteronymou...	ORPHA:2965
Osteoporosis-Pseudoglioma Syndrome	Blindness, Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Congenital blindness	OMIM:259770
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Sclerosteosis 1	Papilledema, Constriction of peripheral visual field, Facial palsy, Visual loss, Optic atrophy, B...	OMIM:269500
Senior-Loken Syndrome 3	Visual loss, Congenital blindness	OMIM:606995
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Visual loss, Optic atrophy, Yellow/white lesions of the retina, Cherry r...	ORPHA:93400
Mercury Poisoning	Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis, Hypokalemia, Episod...	ORPHA:330021
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Optic atrophy	ORPHA:504476
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Congenital stationary night blindness, Myopia, Abnormal optic disc morphology, Visual field defect	ORPHA:293967
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Athetosis, Hypokalemia, Primary hyperaldosteronism, Pulmonary arterial hypertension, Decreased ci...	OMIM:615474
Trichothiodystrophy	Macular degeneration, Retinal degeneration	ORPHA:33364
Hyper-Igd Syndrome	Optic disc pallor, Nyctalopia, Rod-cone dystrophy	OMIM:260920
Hemochromatosis, Type 1	Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly	OMIM:235200
Asparagine Synthetase Deficiency	Blindness, Optic nerve hypoplasia, Cerebral visual impairment	OMIM:615574
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Reduced visual acuity	OMIM:604229
Alpha-Mannosidosis, Adult Form	Optic disc pallor, Myopia	ORPHA:309288
Visual Impairment And Progressive Phthisis Bulbi	Reduced visual acuity, Hypermetropia	OMIM:618283
Ectodermal Dysplasia-Blindness Syndrome	Abnormality of vision, Blindness	ORPHA:1806
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Aggressive behavior, Mitral valve prolapse, Self-injurious behavior, Abnormal temp...	ORPHA:449291
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia, Weight loss	OMIM:613239
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Visual impairment, Optic atrophy, Macular hypoplasia, Chorioretinal coloboma	OMIM:615219
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome	Peripheral axonal neuropathy, Optic atrophy	ORPHA:496756
Farber Disease	Macular degeneration, Cherry red spot of the macula, CNS foam cells	ORPHA:333
Mitochondrial Complex I Deficiency, Nuclear Type 28	Optic disc pallor, Optic atrophy, Optic neuropathy	OMIM:618249
Hermansky-Pudlak Syndrome 5	Hypoplasia of the fovea, Ocular albinism, Reduced visual acuity	OMIM:614074
Adrenocortical Carcinoma	Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased body weight...	ORPHA:1501
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Hyponatremia, Neonatal respiratory distress, Apnea, Ataxia, Hypopnea, Hypok...	OMIM:618426
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Blindness	OMIM:603387
Edict Syndrome	Reduced visual acuity, Visual impairment	OMIM:614303
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom...	ORPHA:324410
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Optic disc pallor, Visual impairment	OMIM:619167
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Blindness, Optic nerve dysplasia, Retinal dysplasia	OMIM:615287
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,...	OMIM:231005
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Myopia, Optic atrophy, Hypermetropia, Retinal dysplasia	OMIM:253800
Arima Syndrome	Blindness, Optic atrophy, Retinal dystrophy, Chorioretinal coloboma	OMIM:243910
Cornea Plana 2, Autosomal Recessive	Reduced visual acuity, Hypermetropia	OMIM:217300
Cirrhotic Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Cardiomegaly, Addictive alcohol use, Left ventricular hype...	ORPHA:57777
Hyperaldosteronism, Familial, Type Iii	Hypokalemia, Hyperaldosteronism, Decreased circulating renin level	OMIM:613677
Mccune-Albright Syndrome	Blindness	OMIM:174800
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Myopia, Optic atrophy, Reduced visual acuity	OMIM:618727
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level	OMIM:618126
Friedreich Ataxia	Decreased motor nerve conduction velocity, Optic atrophy, Sensory axonal neuropathy, Reduced visu...	ORPHA:95
Craniopharyngioma	Papilledema, Bitemporal hemianopia, Abnormal visual field test, Progressive visual field defects,...	ORPHA:54595
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cardiomegaly	ORPHA:42
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:300971
Pearson Syndrome	Reticulocytosis, Pancytopenia, Ataxia, Small for gestational age, Splenomegaly, Hypomagnesemia, C...	ORPHA:699
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Blindness, Retinal dystrophy, Chorioretinal dysplasia, Ambly...	ORPHA:2556
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Pigmentary retinopathy, Optic atrophy, Retinal dysplasia	OMIM:613154
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Cardiomegaly	OMIM:255120
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Retinal detachment, Blindness, Myopia	OMIM:225400
Molybdenum Cofactor Deficiency, Complementation Group B	Hypouricemia	OMIM:252160
Liddle Syndrome 1	Hypokalemia, Decreased circulating renin level	OMIM:177200
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Failure to thrive	OMIM:613090
Fetal And Neonatal Alloimmune Thrombocytopenia	Blindness	ORPHA:853
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c...	OMIM:306955
X-Linked Cerebral Adrenoleukodystrophy	Reduced visual acuity, Peripheral axonal neuropathy, Blindness	ORPHA:139396
Molybdenum Cofactor Deficiency, Complementation Group A	Hypouricemia	OMIM:252150
Combined Oxidative Phosphorylation Deficiency 33	Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly	OMIM:617713
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Hypomagnesemia	ORPHA:564178
Crouzon Syndrome	Optic atrophy, Visual impairment	OMIM:123500
Von Hippel-Lindau Disease	Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic islet cell adenoma, Pancrea...	ORPHA:892
Meningioma	Papilledema, Bitemporal hemianopia, Blindness, Facial palsy, Neurofibroma, Slow decrease in visua...	ORPHA:2495
Menkes Disease	Gastrointestinal hemorrhage, Hypothermia	ORPHA:565
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Retinopathy, Diplopia, Optic atrophy	ORPHA:220295
Dermatoosteolysis, Kirghizian Type	Nyctalopia	ORPHA:1657
Gm1 Gangliosidosis Type 1	Cherry red spot of the macula, Blindness	ORPHA:79255
Congenital Hereditary Endothelial Dystrophy Type Ii	Reduced visual acuity, Blurred vision	ORPHA:293603
Granular Corneal Dystrophy Type I	Photophobia, Reduced visual acuity, Visual impairment	ORPHA:98962
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Nyctalopia, Optic atrophy, Retinal dystrophy, Optic nerve hypoplasia	OMIM:619321
Bartter Syndrome, Type 2, Antenatal	Fever, Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Diarrhea, H...	OMIM:241200
Kenny-Caffey Syndrome, Type 2	Retinal calcification, Papilledema, Hypermetropia	OMIM:127000
Classic Homocystinuria	Retinal detachment, Myopia, Abnormality of retinal pigmentation, Amblyopia, Optic atrophy	ORPHA:394
Axenfeld-Rieger Syndrome, Type 2	Blindness	OMIM:601499
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:201475
Occipital Horn Syndrome	Gastroparesis, Hypothermia, Gastroesophageal reflux, Esophagitis, Dysphagia	ORPHA:198
Vipoma	Hypercalcemia, Respiratory insufficiency due to muscle weakness, Secretory diarrhea, Weight loss,...	ORPHA:97282
Arterial Calcification, Generalized, Of Infancy, 2	Right atrial enlargement, Cardiomegaly	OMIM:614473
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Ataxia, Dysdiadochokinesis, Hypokalemia, Increased circulating renin level, Hyperaldosteronism, H...	OMIM:612780
Idiopathic Pulmonary Hemosiderosis	Hepatosplenomegaly, Hepatomegaly, Cardiomegaly	ORPHA:99931
Metachromatic Leukodystrophy, Adult Form	Decreased nerve conduction velocity, Optic atrophy, Orthostatic hypotension due to autonomic dysf...	ORPHA:309271
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly	OMIM:616897
Wolfram Syndrome 2	Optic atrophy, Optic neuropathy	OMIM:604928
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Optic atrophy, Progressive visual loss, Motor axonal neur...	OMIM:614298
Gm2-Gangliosidosis, Ab Variant	Blindness	OMIM:272750
Cockayne Syndrome A	Retinal atrophy, Abnormal peripheral myelination, Abnormal auditory evoked potentials, Decreased ...	OMIM:216400
Corneal Dystrophy, Fuchs Endothelial, 6	Reduced visual acuity	OMIM:613270
Bohring-Opitz Syndrome	Retinal atrophy, Optic atrophy	ORPHA:97297
Mitochondrial Complex I Deficiency, Nuclear Type 1	Optic disc pallor, Blindness, Optic neuropathy	OMIM:252010
Primary Hyperoxaluria	Optic disc pallor, Choroidal neovascularization, Optic atrophy, Reduced visual acuity, Retinopathy	ORPHA:416
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ...	ORPHA:3427
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypokalemia, Hypomagnesemia	OMIM:618314
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Weight loss, Hypochloremia, Vom...	ORPHA:90794
Say-Barber-Miller Syndrome	Macular degeneration, Rod-cone dystrophy, Optic atrophy	ORPHA:3132
Cataract 49	Reduced visual acuity	OMIM:619593
Bartter Syndrome Type 4	Hyponatremia, Small for gestational age, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increase...	ORPHA:89938
Cystinosis, Nephropathic	Blindness, Retinal pigment epithelial mottling, Reduced visual acuity, Photophobia, Pigmentary re...	OMIM:219800
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei...	OMIM:613095
Distal Renal Tubular Acidosis	Hemolytic anemia, Respiratory insufficiency due to muscle weakness, Diarrhea, Hypokalemia, Vomiti...	ORPHA:18
Combined Oxidative Phosphorylation Deficiency 15	Optic disc pallor, Optic atrophy, Reduced visual acuity	OMIM:614947
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ...	ORPHA:363705
Ruvalcaba Syndrome	Abnormality of visual evoked potentials	ORPHA:3121
Biotinidase Deficiency	Visual loss, Optic atrophy	OMIM:253260
Xeroderma Pigmentosum, Complementation Group B	Decreased nerve conduction velocity, Pigmentary retinopathy, Optic atrophy	OMIM:610651
Osteopetrosis With Renal Tubular Acidosis	Retinal atrophy, Optic atrophy, Abnormal retinal morphology	ORPHA:2785
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Biotinidase Deficiency	Optic atrophy, Scotoma, Optic neuropathy, Nonprogressive visual loss	ORPHA:79241
Corneal Dystrophy, Posterior Polymorphous, 3	Reduced visual acuity	OMIM:609141
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Nyctalopia, Optic a...	ORPHA:217085
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Splenomegaly, Inability to walk, Hypokalemia, Gastroesophageal reflux, ...	OMIM:617913
Hyperoxaluria, Primary, Type I	Choroidal neovascularization, Optic neuropathy, Retinal crystals, Optic atrophy, Retinopathy	OMIM:259900
Plasminogen Deficiency, Type I	Blindness	OMIM:217090
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Cogan Syndrome	Photophobia, Blindness, Reduced visual acuity	ORPHA:1467
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card...	OMIM:300257
Mogs-Cdg	Abnormality of visual evoked potentials, Absent brainstem auditory responses, Optic atrophy	ORPHA:79330
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Nyctalopia, Optic a...	ORPHA:217093
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
White-Sutton Syndrome	Abnormality of visual evoked potentials, Rod-cone dystrophy, Optic nerve hypoplasia, Cerebral atr...	OMIM:616364
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Nyctalopia, Constriction of peripheral visual field, Macular atrophy	OMIM:619418
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Photophobia, Blindness	OMIM:148210
Osteopetrosis, Autosomal Recessive 7	Optic nerve compression, Optic atrophy, Progressive visual loss	OMIM:612301
Igg4-Related Dacryoadenitis And Sialadenitis	Blindness, Optic nerve compression, Abnormal optic nerve morphology	ORPHA:79078
Knobloch Syndrome 1	Retinal detachment, Optic disc pallor, Chorioretinal atrophy, High myopia, Vitreoretinopathy, Mac...	OMIM:267750
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Visual loss, Blindness, Amblyopia	ORPHA:2250
Helix Syndrome	Xerostomia, Hypokalemia, Hypermagnesemia, Heat intolerance	OMIM:617671
Atypical Werner Syndrome	Abnormality of retinal pigmentation, Peripheral arterial stenosis, Premature arteriosclerosis, Ab...	ORPHA:79474
Hypomagnesemia 2, Renal	Hypokalemia, Hypomagnesemia	OMIM:154020
Corneodermatoosseous Syndrome	Photophobia, Nyctalopia, Hemeralopia	ORPHA:3194
Norrie Disease	Retinal detachment, Blindness, Abnormal chorioretinal morphology, Remnants of the hyaloid vascula...	ORPHA:649
Peroxisome Biogenesis Disorder 1B	Rod-cone dystrophy, Optic atrophy	OMIM:601539
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Right ventricular hypertrophy, Dysphagia	ORPHA:268
Tsh-Secreting Pituitary Adenoma	Bitemporal hemianopia, Blindness, Abnormal visual field test, Diplopia, Hemianopia, Sudden loss o...	ORPHA:91347
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Webb-Dattani Syndrome	Blindness	OMIM:615926
Pseudo-Torch Syndrome 3	Cardiomegaly	OMIM:618886
Infantile Nephropathic Cystinosis	Abnormal blood ion concentration, Hypokalemia, Constipation, Vomiting, Hypophosphatemia, Failure ...	ORPHA:411629
Mucoepithelial Dysplasia, Hereditary	Photophobia, Blindness	OMIM:158310
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Hyperkalemia	OMIM:201810
Symptomatic Form Of Hfe-Related Hemochromatosis	Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly	ORPHA:465508
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Dysphagia	OMIM:608013
Renal Tubular Acidosis Iii	Hypokalemia	OMIM:267200
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature	Optic atrophy	OMIM:609037
Phace Association	Increased retinal vascularity, Optic atrophy, Optic nerve hypoplasia, Horner syndrome	OMIM:606519
Stickler Syndrome	Retinal detachment, Blindness, Myopia, Abnormal vitreous humor morphology, Visual impairment	ORPHA:828
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Myopia, Retinal dystrophy, Visual loss, Subretinal deposits, Abnormal optic disc morphology	ORPHA:397715
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Dec...	ORPHA:909
Amoebiasis Due To Free-Living Amoebae	Blindness, Facial palsy, Visual loss, Diplopia, Photophobia	ORPHA:68
Behçet Disease	Blindness, Retrobulbar optic neuritis, Photophobia, Optic neuritis, Retinopathy	ORPHA:117
Temtamy Preaxial Brachydactyly Syndrome	Abnormal optic disc morphology, Optic atrophy	ORPHA:363417
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Cardiomegaly	OMIM:105210
Fucosidosis	Hepatomegaly, Cardiomegaly	ORPHA:349
Craniotubular Dysplasia, Ikegawa Type	Optic neuropathy, Cerebral visual impairment, Optic atrophy, Optic nerve compression, Visual impa...	OMIM:619727
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia	OMIM:134600
Gitelman Syndrome	Respiratory distress, Diarrhea, Hypermagnesemia, Iron deficiency anemia, Hypokalemia, Constipatio...	ORPHA:358
Weill-Marchesani Syndrome 1	Blindness, High myopia	OMIM:277600
Turcot Syndrome With Polyposis	Papilledema, Hyperpigmentation of the fundus, Epiretinal membrane, Visual acuity no light percept...	ORPHA:99818
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Cantú Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Inappropriate laughter, Cardiomegaly	OMIM:618143
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Gastroesophageal reflux, Const...	OMIM:301040
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Increased circulating corticosterone level, Hypokalemia, Fa...	ORPHA:90793
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Cardiomegaly	OMIM:617022
Bartter Syndrome, Type 3	Hyperchloriduria, Hypokalemia, Hyperaldosteronism, Increased circulating renin level	OMIM:607364
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Reduced visual acu...	ORPHA:790
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Myopia, Amblyopia, Retinal arteriolar tortuosity, Retinal hemorrhage, Hypermetropia, Reduced visu...	OMIM:175780
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Macular degeneration, Rod-cone dystrophy, Retinal dystrophy, Attenuation of retinal blood vessels	OMIM:266920
Dpagt1-Cdg	Diffuse optic disc pallor, Nyctalopia, Rod-cone dystrophy, Optic atrophy	ORPHA:86309
Autosomal Dominant Kenny-Caffey Syndrome	Retinal calcification, Papilledema, Hypermetropia	ORPHA:93325
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Dilated cardiomyopathy, Enlarged kidney, Cardiomegaly	OMIM:608836
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:308552
Romano-Ward Syndrome	Hypokalemia	ORPHA:101016
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Optic atrophy	OMIM:604121
Scorpion Envenomation	Fever, Increased circulating NT-proBNP concentration, Ataxia, Diarrhea, Tachypnea, Hypokalemia, V...	ORPHA:466677
Pituitary Adenoma 4, Acth-Secreting	Hypokalemia, Obesity, Abdominal obesity	OMIM:219090
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly	OMIM:614921
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Myopia, Optic nerve hypoplasia, Facial palsy, Amblyopia, Hypermetropia, Abnormal optic disc morph...	ORPHA:508498
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula...	OMIM:245600
Sickle Cell Disease	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:603903
Saul-Wilson Syndrome	Nyctalopia	OMIM:618150
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Impulsivity, Cardiomega...	OMIM:300967
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Cardiomegaly	OMIM:208000
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Cardiomegaly	ORPHA:158687
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v...	OMIM:602782
Hermansky-Pudlak Syndrome	Abnormality of visual evoked potentials, Abnormal optic nerve morphology, Ocular albinism	ORPHA:79430
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Failure to thrive	OMIM:602522
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypoammonemia, Thrombocytopenia, Respiratory insufficiency, Hypokalemia, Hyperaldos...	ORPHA:534
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly	ORPHA:228308
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Decreased circulating cortisol level, Small for gestational age, Hyperkalemia, Elev...	OMIM:201750
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly	OMIM:620306
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Hypokalemia, Decreased circulating cortisol level, Decreased circulating renin level	ORPHA:90795
Absence Of The Pulmonary Artery	Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect...	ORPHA:980
Mucopolysaccharidosis, Type Iiid	Nyctalopia, Visual impairment	OMIM:252940
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo...	ORPHA:3384
Weill-Marchesani Syndrome 2	Blindness, High myopia	OMIM:608328
Histidinemia	Hyperactivity	ORPHA:2157
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
17Q11 Microdeletion Syndrome	Multiple mucosal neuromas, Blindness, Retinal vascular proliferation, Schwannoma, Glomus jugular ...	ORPHA:97685
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Abnormality of visual evoked potentials, Pontocerebellar atrophy, Facial palsy	ORPHA:258
Ramon Syndrome	Optic disc pallor, Pigmentary retinopathy	OMIM:266270
Leprosy	Blindness, Abnormality of the seventh cranial nerve, Enlarged peripheral nerve, Abnormal autonomi...	ORPHA:548
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial...	ORPHA:1677
Cockayne Syndrome B	Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Optic atrophy, Cerebral...	OMIM:133540
Glycogen Storage Disease Ii	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:232300
Fucosidosis	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:230000
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly	ORPHA:2463
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Macular edema, Re...	ORPHA:91500
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypokalemia, Elevated serum 11-deoxycortisol, Decreased circulating renin level	OMIM:202010
Metachromatic Leukodystrophy	Decreased nerve conduction velocity, Abnormality of visual evoked potentials	ORPHA:512
Autosomal Recessive Malignant Osteopetrosis	Abnormality of visual evoked potentials, Optic nerve compression	ORPHA:667
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Cerebral cortical neurodegeneration, Cerebral atrophy, Abnormality of visual ...	OMIM:203700
Ogden Syndrome	Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum...	OMIM:300855
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Enlarged kidney	OMIM:252500
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Cardiomegaly, Dysphagia, Left ventricular hypertrophy, Hypertrophic cardiomyopathy	ORPHA:365
Microphthalmia, Syndromic 6	Myopia, Blindness, Retinal dystrophy	OMIM:607932
Leprechaunism	Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Decreased body weight, Failur...	ORPHA:508
Andersen Cardiodysrhythmic Periodic Paralysis	Hypokalemia	OMIM:170390
Nelson Syndrome	Secondary hypercortisolism, Hypokalemia, Increased circulating cortisol level	ORPHA:199244
Proximal Renal Tubular Acidosis	Diarrhea, Bicarbonaturia, Hypokalemia, Vomiting, Failure to thrive	ORPHA:47159
Rabson-Mendenhall Syndrome	Hypokalemia, Increased C-peptide level	ORPHA:769
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Hepatoerythropoietic Porphyria	Blindness	ORPHA:95159
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly	ORPHA:96191
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Cardiomegaly	ORPHA:137675
Renpenning Syndrome 1	Blindness, Hypermetropia	OMIM:309500
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney	OMIM:130650
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega...	ORPHA:75565
7Q11.23 Microduplication Syndrome	Abnormal optic disc morphology	ORPHA:96121
Generalized Glucocorticoid Resistance Syndrome	Hypokalemia, Increased circulating cortisol level	ORPHA:786
Fraser Syndrome 1	Blindness	OMIM:219000
Congenital Erythropoietic Porphyria	Blindness	ORPHA:79277
Williams Syndrome	Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Ventricular septal defe...	ORPHA:904
Aicardi-Goutières Syndrome	Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:51
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Photophobia, Visual loss, Blindness	ORPHA:95455
Menke-Hennekam Syndrome 1	Blindness, Hypermetropia	OMIM:618332
Microphthalmia, Syndromic 1	Blindness, Optic disc coloboma, Aganglionic megacolon, Chorioretinal coloboma	OMIM:309800
Liver Disease, Severe Congenital	Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil...	OMIM:619991
Fraser Syndrome	Blindness	ORPHA:2052
Yunis-Varon Syndrome	Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Tetralogy of Fallot	ORPHA:3472
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Visceromegaly, Enlarged ki...	ORPHA:116
Alström Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Blindness, Retinal pigment epithelial atrophy, Retina...	ORPHA:64
Proteasome-Associated Autoinflammatory Syndrome 1	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:256040
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis...	OMIM:182250
Generalized Arterial Calcification Of Infancy	Pericardial effusion, Ventricular hypertrophy, Myocardial calcification, Cardiomegaly	ORPHA:51608
Vascular Ehlers-Danlos Syndrome	Hypokalemia, Pneumothorax, Respiratory insufficiency	ORPHA:286

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	Sex	Life Stage
Eye - MPATH pathological process term atrophy	Pde6b^{tm1b(KOMP)Wtsi}	HOM		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 Pde6b.

No publications found that use IMPC mice or data for Pde6b.

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MGI Allele	Allele Type	Produced
Pde6b^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Pde6b^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice, Tissue
Pde6b^{tm44764(L1L2_gt0)}	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: Pde6b MGI:97525

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Adult LacZ

X-ray

Human diseases caused by Pde6b mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data