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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
decreased defecation amount	Pde6b^Pde6b	HOM	Early adult	5.51×10^-05
abnormal whole-body plethysmography	Pde6b^Pde6b	HOM	Early adult	1.00×10^-05
decreased circulating amylase level	Pde6b^Pde6b	HOM	Early adult	2.14×10^-07
decreased circulating triglyceride level	Pde6b^Pde6b	HOM	Early adult	2.50×10^-08
hyperactivity	Pde6b^{tm1b(KOMP)Wtsi}	HOM	Early adult	9.72×10^-05
decreased body temperature	Pde6b^Pde6b	HOM	Early adult	1.32×10^-06
enlarged heart	Pde6b^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00
decreased locomotor activity	Pde6b^Pde6b	HOM	Early adult	9.17×10^-07
increased mean corpuscular hemoglobin concentration	Pde6b^Pde6b	HOM	Early adult	9.07×10^-05
increased blood uric acid level	Pde6b^Pde6b	HOM	Early adult	2.61×10^-09
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 body weight	Pde6b^Pde6b	HOM	Early adult	3.56×10^-06
increased mean corpuscular volume	Pde6b^Pde6b	HOM	Early adult	2.72×10^-07
increased cellular hemoglobin content	Pde6b^Pde6b	HOM	Early adult	5.73×10^-06

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 (1472 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, Reduced visual acuity, Abnormal fundus morphology, Moderat...	OMIM:163500
Retinitis Pigmentosa 40	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:613801
Congenital Stationary Night Blindness	Retinal thinning, Color vision defect, Hypermetropia, Congenital stationary night blindness with ...	ORPHA:215
Retinitis Pigmentosa	Optic atrophy, Bone spicule pigmentation of the retina, Photophobia, Progressive night blindness,...	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	Falciform retinal fold, Retinal dysplasia	OMIM:312550
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy, Visual impairment	OMIM:613827
Retinitis Pigmentosa 42	Cystoid macular edema, Peripapillary atrophy, Reduced visual acuity, Perifoveal ring of hyperauto...	OMIM:612943
Doyne Honeycomb Retinal Dystrophy	Visual impairment, Retinal dystrophy, Reticular pigmentary degeneration	OMIM:126600
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Retinal dystrophy, Drusen, Reticular pigmentary degeneration	OMIM:267800
Cone-Rod Dystrophy 7	Color vision defect, Bull's eye maculopathy, Cone/cone-rod dystrophy, Retinal flecks, Macular atr...	OMIM:603649
Macular Degeneration, Age-Related, 13	Drusen, Choroidal neovascularization, Macular degeneration, Macular scar, Progressive visual loss	OMIM:615439
Cone-Rod Dystrophy 9	Cone/cone-rod dystrophy, Visual impairment	OMIM:612775
Macular Dystrophy, Patterned, 3	Reduced visual acuity, Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization	OMIM:617111
Stargardt Disease 3	Macular dystrophy, Macular flecks, Reduced visual acuity, Macular atrophy, Visual impairment	OMIM:600110
Optic Atrophy 9	Optic atrophy, Red-green dyschromatopsia, Optic disc pallor, Paracentral scotoma, Reduced visual ...	OMIM:616289
Macular Degeneration, Early-Onset	Macular degeneration, Reduced visual acuity, Choroidal neovascularization	OMIM:616118
Macular Dystrophy, Retinal, 1, North Carolina Type	Macular dystrophy, Drusen, Central scotoma, Dyschromatopsia, Abnormality of macular pigmentation,...	OMIM:136550
Macular Dystrophy, Retinal, 2	Granular macular appearance, Macular dystrophy, Central scotoma, Dyschromatopsia, Reduced visual ...	OMIM:608051
Macular Degeneration, Atrophic, X-Linked	Macular degeneration, Reduced visual acuity	OMIM:300834
Best Vitelliform Macular Dystrophy	Cystoid macular degeneration, Color vision defect, Choroideremia, Visual field defect, Metamorpho...	ORPHA:1243
Stargardt Disease 4	Macular degeneration, Retinal flecks, Reduced visual acuity	OMIM:603786
Leber-Like Hereditary Optic Neuropathy, Autosomal Recessive 2	Optic atrophy, Red-green dyschromatopsia, Progressive visual loss, Centrocecal scotoma	OMIM:620569
Late-Onset Retinal Degeneration	Sub-RPE deposits, Adult-onset night blindness, Visual loss, Choroidal neovascularization, Scotoma...	OMIM:605670
Macular Dystrophy, Vitelliform, 2	Cystoid macular degeneration, Macular dystrophy, Reduced visual acuity, Subretinal fluid, Visual ...	OMIM:153700
Macular Dystrophy, Patterned, 2	Pattern dystrophy of the retina, Foveal hyperpigmentation, Drusen, Reduced visual acuity	OMIM:608970
Retinitis Pigmentosa 29	Attenuation of retinal blood vessels, Rod-cone dystrophy, Blindness	OMIM:612165
Leber Congenital Amaurosis 19	Visual impairment, Retinal degeneration, Attenuation of retinal blood vessels, Optic disc pallor	OMIM:618513
Macular Dystrophy, Vitelliform, 5	Macular dystrophy, Central scotoma, Reduced visual acuity, Vitelliform-like macular lesions, Mode...	OMIM:616152
Sorsby Pseudoinflammatory Fundus Dystrophy	Large central visual field defect, Macular dystrophy, Abnormal fundus autofluorescence imaging, V...	ORPHA:59181
Retinitis Pigmentosa 70	Constriction of peripheral visual field, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:615922
Retinitis Pigmentosa 11	Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Macular degener...	OMIM:600138
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Optic Atrophy 6	Optic atrophy, Photophobia, Red-green dyschromatopsia, Retinal degeneration, Visual impairment	OMIM:258500
Retinitis Pigmentosa 63	Rod-cone dystrophy, Nyctalopia, Optic disc pallor, Blurred vision	OMIM:614494
Leber Congenital Amaurosis 13	Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,...	OMIM:612712
Retinal Cone Dystrophy 1	Color vision defect, Photophobia, Bull's eye maculopathy, Cone/cone-rod dystrophy, Retinal degene...	OMIM:180020
Central Areolar Choroidal Dystrophy	Full-thickness macular hole, Drusen, Visual loss, Foveal photoreceptor outer segment loss on macu...	ORPHA:75377
Optic Atrophy 13 With Retinal And Foveal Abnormalities	Optic atrophy, Attenuation of retinal blood vessels, Reduced visual acuity	OMIM:165510
Peripheral Cone Dystrophy	Optic atrophy, Peripheral retinal degeneration, Pericentral scotoma, Cone/cone-rod dystrophy, Par...	OMIM:609021
Retinitis Pigmentosa 30	Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret...	OMIM:607921
Leber Congenital Amaurosis 12	Abnormality of macular pigmentation, Congenital blindness	OMIM:610612
Auditory Neuropathy And Optic Atrophy	Optic atrophy, Rod-cone dystrophy, Visual impairment	OMIM:617717
Retinitis Pigmentosa 31	Attenuation of retinal blood vessels, Rod-cone dystrophy, Visual field defect, Retinal pigment ep...	OMIM:609923
Retinitis Pigmentosa 33	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Visual impairment,...	OMIM:610359
Retinitis Pigmentosa 73	Constriction of peripheral visual field, Color vision defect, Bone spicule pigmentation of the re...	OMIM:616544
Night Blindness, Congenital Stationary, Autosomal Dominant 2	Congenital stationary night blindness, Reduced visual acuity, Abnormal fundus morphology, Moderat...	OMIM:163500
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Blindness, Retinopat...	OMIM:180210
Retinitis Pigmentosa 35	Rod-cone dystrophy, Reduced visual acuity, Blindness, Nyctalopia	OMIM:610282
Retinitis Pigmentosa 81	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Reduced visual acu...	OMIM:617871
Retinitis Pigmentosa 78	Cystoid macular edema, Photopsia, Visual field defect, Reduced visual acuity, Optic disc pallor, ...	OMIM:617433
Retinoschisis 1, X-Linked, Juvenile	Hypermetropia, Retinal detachment, Progressive visual loss, Retinal atrophy, Retinoschisis, Perip...	OMIM:312700
Retinitis Pigmentosa 32	Bone spicule pigmentation of the retina, Photophobia, Photoreceptor layer loss on macular OCT, Pi...	OMIM:609913
Retinitis Pigmentosa 68	Bone spicule pigmentation of the retina, Retinal atrophy, Visual field defect, Reduced visual acu...	OMIM:615725
Retinitis Pigmentosa 36	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:610599
Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome	Rod-cone dystrophy, Severely reduced visual acuity	ORPHA:3011
Retinitis Pigmentosa 62	Bone spicule pigmentation of the retina, Bull's eye maculopathy, Visual field defect, Attenuation...	OMIM:614181
Retinitis Pigmentosa 38	Constriction of peripheral visual field, Progressive visual loss, Peripheral retinal atrophy, Rod...	OMIM:613862
Retinitis Pigmentosa 27	Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Peripapillary c...	OMIM:613750
Sorsby Fundus Dystrophy	Macular dystrophy, Chorioretinal atrophy, Blindness	OMIM:136900
Macular Dystrophy, Vitelliform, 1	Macular dystrophy, Visual field defect, Reduced visual acuity, Vitelliform-like macular lesions, ...	OMIM:153840
Macular Dystrophy, Vitelliform, 4	Macular dystrophy, Drusen, Vitelliform-like macular lesions, Moderately reduced visual acuity	OMIM:616151
Retinitis Pigmentosa 76	Constriction of peripheral visual field, Retinal thinning, Bone spicule pigmentation of the retin...	OMIM:617123
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant	Optic atrophy, Visual impairment	OMIM:165199
Cone-Rod Dystrophy 5	Color vision defect, Photophobia, Central scotoma, Macular degeneration, Cone/cone-rod dystrophy,...	OMIM:600977
Leber Hereditary Optic Neuropathy, Modifier Of	Optic atrophy, Leber optic atrophy	OMIM:308905
Cone-Rod Dystrophy 13	Color vision defect, Photophobia, Macular degeneration, Cone/cone-rod dystrophy, Reduced visual a...	OMIM:608194
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Progressive visual loss, Attenuation of retinal blood ve...	OMIM:617781
Cone-Rod Dystrophy 22	Photophobia, Hyperautofluorescent macular lesion, Bull's eye maculopathy, Attenuation of retinal ...	OMIM:619531
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig...	OMIM:613830
Bothnia Retinal Dystrophy	Large central visual field defect, Color vision defect, Increased OCT-measured foveal thickness, ...	ORPHA:85128
Retinitis Pigmentosa 85	Progressive night blindness, Rod-cone dystrophy, Reduced visual acuity	OMIM:618345
Persistent Placoid Maculopathy	Choroidal neovascularization, Retinal pigment epithelial mottling, Reduced visual acuity, Hypopla...	ORPHA:97341
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities	Retinal dystrophy, Photophobia, Central scotoma, Reduced visual acuity, Optic disc pallor, Nyctal...	OMIM:616079
Newfoundland Rod-Cone Dystrophy	Color vision defect, Bone spicule pigmentation of the retina, Scotoma, Retinal dystrophy, Central...	OMIM:607476
Bietti Crystalline Dystrophy	Large central visual field defect, Retinal thinning, Constriction of peripheral visual field, Col...	ORPHA:41751
Retinitis Pigmentosa 71	Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of hyperautofluorescence...	OMIM:616394
Hyperleucine-Isoleucinemia	Retinal degeneration	OMIM:238340
Macular Dystrophy, Retinal, 4	Reduced OCT-measured foveal thickness, Reduced visual acuity, Choroidal neovascularization, Nycta...	OMIM:619977
Oguchi Disease 2	Congenital stationary night blindness, Mizuo phenomenon	OMIM:613411
Oguchi Disease 1	Congenital stationary night blindness, Mizuo phenomenon	OMIM:258100
Macular Dystrophy, Patterned, 1	Dark choroid, Macular dystrophy, Pattern dystrophy of the retina, Choroidal neovascularization, P...	OMIM:169150
Leber Congenital Amaurosis With Early-Onset Deafness	Photophobia, Peripapillary atrophy, Reduced visual acuity, Retinal degeneration, High hypermetrop...	OMIM:617879
Leber-Like Hereditary Optic Neuropathy, Autosomal Recessive 1	Central retinal vessel vascular tortuosity, Retinal telangiectasia, Central scotoma, Reduced visu...	OMIM:619382
Retinitis Pigmentosa 19	Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Attenuation of ...	OMIM:601718
Cone-Rod Dystrophy 24	Color vision defect, Scotoma, Photophobia, Macular degeneration, Macular drusen, Cone/cone-rod dy...	OMIM:620342
Cavitary Optic Disc Anomalies	Visual field defect, Peripapillary atrophy, Reduced visual acuity, Nyctalopia	OMIM:611543
Macular Dystrophy, Vitelliform, 3	Macular dystrophy, Color vision defect, Drusen, Choroidal neovascularization, Photophobia, Metamo...	OMIM:608161
Retinitis Pigmentosa 28	Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Rod-cone dystro...	OMIM:606068
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold	OMIM:617572
Retinitis Pigmentosa 47	Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Visual impairment, Nyctalopia	OMIM:613758
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Blindness, Attenuation of retinal blood...	OMIM:613731
Senior-Loken Syndrome 6	Rod-cone dystrophy, Reduced visual acuity, Visual impairment	OMIM:610189
Leber Congenital Amaurosis 4	Optic disc pallor, Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Reduced visual ...	OMIM:604393
Bothnia Retinal Dystrophy	Macular degeneration, Retinal dystrophy, Nyctalopia	OMIM:607475
Cone-Rod Dystrophy 21	Photophobia, Retinal dystrophy, Reduced visual acuity, Macular atrophy, Nyctalopia	OMIM:616502
Retinitis Pigmentosa 50	Retinal detachment, Attenuation of retinal blood vessels, Reduced visual acuity, Retinal flecks, ...	OMIM:613194
Cone-Rod Dystrophy 12	Color vision defect, Central scotoma, Bull's eye maculopathy, Cone/cone-rod dystrophy, Reduced vi...	OMIM:612657
Cone Dystrophy 3	Photophobia, Progressive visual loss, Cone/cone-rod dystrophy, Reduced visual acuity, Macular atr...	OMIM:602093
Optic Atrophy 12	Optic atrophy, Photophobia, Dyschromatopsia, Reduced visual acuity, Abnormal Ishihara plate test,...	OMIM:618977
Choroideremia	Granular macular appearance, Constriction of peripheral visual field, Bone spicule pigmentation o...	OMIM:303100
Glaucoma 1, Open Angle, P	Increased cup-to-disc ratio, Glaucomatous visual field defect	OMIM:177700
Retinitis Pigmentosa 18	Scotoma, Nyctalopia, Retinal arteriolar constriction, Rod-cone dystrophy, Progressive visual fiel...	OMIM:601414
Bestrophinopathy, Autosomal Recessive	Retinal flecks, Hypermetropia, Reduced visual acuity, Retinal pigment epithelial atrophy	OMIM:611809
Cone-Rod Dystrophy 11	Photophobia, Macular degeneration, Slow decrease in visual acuity, Bull's eye maculopathy, Cone/c...	OMIM:610381
Retinitis Pigmentosa 79	Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Photophobia, At...	OMIM:617460
Retinitis Pigmentosa 57	Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Cystoid macular...	OMIM:613582
Retinitis Pigmentosa 20	Attenuation of retinal blood vessels, Rod-cone dystrophy, Severely reduced visual acuity, Visual ...	OMIM:613794
Cone-Rod Dystrophy, X-Linked, 1	Color vision defect, Photophobia, Hypoautofluorescent macular lesion, Reduced visual acuity, Reti...	OMIM:304020
Cone-Rod Dystrophy 17	Photophobia, Central scotoma, Optic disc pallor, Cone/cone-rod dystrophy, Visual impairment	OMIM:615163
Cone-Rod Dystrophy 15	Constriction of peripheral visual field, Color vision defect, Photophobia, Attenuation of retinal...	OMIM:613660
Night Blindness, Congenital Stationary, Type 1G	Constriction of peripheral visual field, Congenital stationary night blindness, Visual impairment...	OMIM:616389
Retinitis Pigmentosa 54	Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retinal blood vessels, Ro...	OMIM:613428
Retinitis Pigmentosa 17	Color vision defect, Bone spicule pigmentation of the retina, Photophobia, Rod-cone dystrophy, Ny...	OMIM:600852
Ceroid Lipofuscinosis, Neuronal, 6A	Retinal degeneration	OMIM:601780
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Macular degeneration, Subretinal deposits, Choriocapillaris atrophy, Reduced visual acuity, Blind...	OMIM:601553
Wagner Vitreoretinopathy	Optic atrophy, Visual loss, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitr...	OMIM:143200
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy...	OMIM:614180
Retinitis Pigmentosa 1	Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Scotoma, Attenu...	OMIM:180100
Choroideremia	Abnormality of vision, Abnormality of retinal pigmentation, Myopia, Progressive visual loss, Visu...	ORPHA:180
Fleck Retina, Familial Benign	Retinal flecks, Visual impairment, Nyctalopia	OMIM:228980
Retinitis Pigmentosa 90	Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Cystoid macular...	OMIM:619007
Cone Rod Dystrophy	Color vision defect, Photophobia, Abnormality of retinal pigmentation, Visual impairment, Nyctalopia	ORPHA:1872
Macular Degeneration, Age-Related, 1	Geographic atrophy, Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, ...	OMIM:603075
Prolonged Electroretinal Response Suppression 2	Abnormal fundus morphology, Photophobia, Mildly reduced visual acuity, Difficulty adjusting to ch...	OMIM:620344
Retinitis Pigmentosa 95	Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Attenuation of ...	OMIM:620102
Retinitis Pigmentosa 88	Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation...	OMIM:618826
Cone-Rod Dystrophy 16	Bone spicule pigmentation of the retina, Photophobia, Progressive visual loss, Cone/cone-rod dyst...	OMIM:614500
Macular Dystrophy With Central Cone Involvement	Macular dystrophy, Central scotoma, High myopia, Red-green dyschromatopsia, Optic disc pallor, Bu...	OMIM:616170
Usher Syndrome, Type Iv	Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Hyperautofluore...	OMIM:618144
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Retinal degeneration, High hypermetropia	OMIM:251700
Retinitis Pigmentosa	Constriction of peripheral visual field, Abnormality of fundus pigmentation, Rod-cone dystrophy, ...	OMIM:268000
Fundus Albipunctatus	Fundus albipunctatus, Retinal flecks, Nyctalopia	OMIM:136880
Retinitis Pigmentosa 7	Constriction of peripheral visual field, Adult-onset night blindness, Chorioretinal atrophy, Atte...	OMIM:608133
Choroidal Dystrophy, Central Areolar, 1	Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy	OMIM:215500
Optic Atrophy 15	Optic atrophy, Photophobia, Dyschromatopsia, Central scotoma, Reduced visual acuity, Optic disc p...	OMIM:620583
Retinitis Pigmentosa 13	Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Asteroid hyalos...	OMIM:600059
Achromatopsia 7	Achromatopsia, Photophobia, Central scotoma, Hypoplasia of the fovea, Reduced visual acuity, Abse...	OMIM:616517
Retinitis Pigmentosa 69	Constriction of peripheral visual field, Perifoveal hypoautofluorescence, Reduced visual acuity, ...	OMIM:615780
Exudative Vitreoretinopathy 3	Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Reduced visual acuity, 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 92	Constriction of peripheral visual field, Paracentral scotoma, Visual impairment, Pigmentary retin...	OMIM:619614
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Cystoid macular degeneration, Constriction of peripheral visual field, Hypermetropia, Retinal deg...	OMIM:267760
Liberfarb Syndrome	Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottlin...	OMIM:618889
Retinal Dystrophy And Obesity	Retinal dystrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood vessels, Peripa...	OMIM:616188
Spastic Paraplegia 74, Autosomal Recessive	Optic atrophy, Peripheral axonal neuropathy, Visual field defect, Visual impairment	OMIM:616451
Basal Laminar Drusen	Drusen, Progressive visual loss	OMIM:126700
Retinitis Pigmentosa 26	Constriction of peripheral visual field, Attenuation of retinal blood vessels, Visual impairment,...	OMIM:608380
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Dyschromatopsia, Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage, My...	OMIM:264420
Retinitis Pigmentosa 9	Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Macular edema, ...	OMIM:180104
Retinopathy Of Prematurity	Vitreous hemorrhage, Tractional retinal detachment, Reduced visual acuity, Abnormal retinal vascu...	ORPHA:90050
Cone-Rod Dystrophy 2	Constriction of peripheral visual field, Color vision defect, Bone spicule pigmentation of the re...	OMIM:120970
Intellectual Developmental Disorder, X-Linked, Syndromic, Gustavson Type	Optic atrophy, Severely reduced visual acuity, Blindness	OMIM:309555
Tritanopia	Tritanomaly, Color vision test abnormality, Photophobia, Reduced visual acuity, Abnormal retinal ...	ORPHA:88629
Temporal Arteritis	Retinal arteritis, Blindness	OMIM:187360
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Exudative Vitreoretinopathy 5	Retinal exudate, Tractional retinal detachment, Reduced visual acuity, Exudative vitreoretinopath...	OMIM:613310
Optic Atrophy 16	Color vision defect, Visual loss, Central scotoma, Temporal optic disc pallor, Mildly reduced vis...	OMIM:620629
Retinitis Pigmentosa 96	Constriction of peripheral visual field, Retinal thinning, Bone spicule pigmentation of the retin...	OMIM:620228
Usher Syndrome, Type Iiia	Visual field defect, Rod-cone dystrophy, Reduced visual acuity, Nyctalopia	OMIM:276902
Optic Atrophy 14	Constriction of peripheral visual field, Reduced visual acuity, Optic disc pallor	OMIM:620550
Stargardt Disease	Retinal thinning, Color vision defect, Central scotoma, Abnormality of macular pigmentation, Macu...	ORPHA:827
Microphthalmia, Isolated 5	Bone spicule pigmentation of the retina, Photophobia, Foveoschisis, Cystoid macular edema, Optic ...	OMIM:611040
Usher Syndrome, Type Iid	Rod-cone dystrophy, Nyctalopia	OMIM:611383
Retinitis Pigmentosa 84	Macular coloboma, Bone spicule pigmentation of the retina, Visual acuity no light perception, Att...	OMIM:618220
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia, Vis...	ORPHA:1852
Optic Atrophy 3, Autosomal Dominant	Optic atrophy, Scotoma, Reduced visual acuity, Optic disc pallor	OMIM:165300
Retinitis Pigmentosa 40	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:613801
Retinitis Pigmentosa 3	Constriction of peripheral visual field, Color vision defect, Bone spicule pigmentation of the re...	OMIM:300029
Achromatopsia	Color vision defect, Color vision test abnormality, Inner retinal layer loss on macular OCT, Phot...	ORPHA:49382
Ceroid Lipofuscinosis, Neuronal, 7	Optic atrophy, Visual loss, Pigmentary retinopathy, Retinopathy, Blindness	OMIM:610951
Retinitis Pigmentosa 49	Bone spicule pigmentation of the retina, Peripheral visual field loss, Attenuation of retinal blo...	OMIM:613756
Foveal Hypoplasia-Presenile Cataract Syndrome	Optic atrophy, Abnormality of vision	ORPHA:2253
Leber Congenital Amaurosis 2	Photophobia, Blindness, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, ...	OMIM:204100
Cone Dystrophy 4	Photophobia, Dyschromatopsia, Cone/cone-rod dystrophy, Reduced visual acuity, Absent foveal refle...	OMIM:613093
Night Blindness, Congenital Stationary, Autosomal Dominant 3	Congenital stationary night blindness	OMIM:610444
Cone-Rod Dystrophy 20	Constriction of peripheral visual field, Tritanomaly, Bone spicule pigmentation of the retina, Ce...	OMIM:615973
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy	Optic atrophy, Color vision defect, Reduced visual acuity, Optic disc pallor	OMIM:618511
Retinitis Pigmentosa 58	Bone spicule pigmentation of the retina, Macular degeneration, Peripheral visual field loss, Atte...	OMIM:613617
Familial Drusen	Granular macular appearance, Macular dystrophy, Visual loss, Peripapillary chorioretinal atrophy,...	ORPHA:75376
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Myopia, Visual impairment	ORPHA:1574
Retinitis Pigmentosa 2	Constriction of peripheral visual field, Chorioretinal degeneration, Central scotoma, High myopia...	OMIM:312600
Macular Dystrophy, Retinal, 3	Color vision defect, Hyperautofluorescent macular lesion, Central scotoma, Macular drusen, Reduce...	OMIM:608850
Morm Syndrome	Visual impairment, Progressive night blindness, Retinal atrophy, Retinal dystrophy	ORPHA:75858
Leber Congenital Amaurosis 16	Photophobia, Optic disc pallor, Visual field defect, Reduced visual acuity, Visual impairment, Ny...	OMIM:614186
Chorioretinal Atrophy, Progressive Bifocal	Retinal detachment, Chorioretinal atrophy, Myopia, Visual impairment, Chorioretinal dystrophy	OMIM:600790
Cone-Rod Dystrophy 18	Foveal hyperpigmentation, Central scotoma, High myopia, Cone/cone-rod dystrophy, Foveal atrophy, ...	OMIM:615374
Irvan Syndrome	Optic atrophy, Retinal exudate, Photophobia, Retinal detachment, Vitreous floaters, Tractional re...	ORPHA:209943
Leber Congenital Amaurosis 9	Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin...	OMIM:608553
Retinitis Pigmentosa 77	Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Cystoid macular...	OMIM:617304
Leber Congenital Amaurosis 14	Photophobia, Retinal dystrophy, Congenital blindness, Reduced visual acuity, Rod-cone dystrophy, ...	OMIM:613341
Deafness, Autosomal Recessive 37	Congenital stationary night blindness, Rod-cone dystrophy	OMIM:607821
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Retinal dysplasia	OMIM:615041
Cone-Rod Dystrophy, X-Linked, 3	Color vision defect, Photophobia, Central scotoma, Retinal detachment, Abnormality of macular pig...	OMIM:300476
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Retinal thinning, Arcuate scotoma, Visual loss, Choroidal neov...	ORPHA:179
Retinal Cone Dystrophy 3B	Scotoma, Photophobia, Cone/cone-rod dystrophy, Reduced visual acuity, Myopia, Macular atrophy, Ny...	OMIM:610356
Retinitis Pigmentosa 12	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Reduced visual acu...	OMIM:600105
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Visual field defec...	OMIM:613809
Usher Syndrome, Type 1M	Drusen, Optic disc pallor, Nyctalopia	OMIM:618632
Progressive Bifocal Chorioretinal Atrophy	Pigmentary retinopathy, Myopia, Macular atrophy, Visual impairment, Chorioretinal dystrophy	ORPHA:75373
Blue Cone Monochromacy	Photophobia, Abnormality of macular pigmentation, Reduced visual acuity, Blue cone monochromacy, ...	OMIM:303700
Retinitis Pigmentosa 66	Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Central scotoma...	OMIM:615233
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation, Metamorphopsia	OMIM:233800
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri...	OMIM:205950
Retinitis Pigmentosa 86	Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund...	OMIM:618613
Retinitis Pigmentosa 10	Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Geographic atro...	OMIM:180105
Retinal Cone Dystrophy 4	Constriction of peripheral visual field, Photophobia, Cone/cone-rod dystrophy, Reduced visual acu...	OMIM:610478
Usher Syndrome, Type Iiib	Photophobia, Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood vessels, Vis...	OMIM:614504
Leber Congenital Amaurosis 11	Reduced visual acuity, Visual impairment	OMIM:613837
Retinitis Pigmentosa 41	Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary retinopathy, Peripheral...	OMIM:612095
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Chorioretinal dysplasia, Reduced visual acuity, Visual impairment	OMIM:616335
Retinitis Pigmentosa 93	Constriction of peripheral visual field, Retinal dots, Rod-cone dystrophy, Reduced visual acuity	OMIM:619845
Night Blindness, Congenital Stationary, Type 1F	Congenital stationary night blindness, High myopia, Reduced visual acuity, Retinal perforation, N...	OMIM:615058
Congenital Stationary Night Blindness	Retinal thinning, Color vision defect, Hypermetropia, Congenital stationary night blindness with ...	ORPHA:215
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
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinopathy, Rod-cone dystrophy, Retinal pigment epithelial mottling, Blindness	OMIM:551500
Retinitis Pigmentosa 60	Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Peripheral visu...	OMIM:613983
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina, Visual field defect	OMIM:610445
Ceroid Lipofuscinosis, Neuronal, 2	Retinal degeneration	OMIM:204500
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Retinitis Pigmentosa 6	Constriction of peripheral visual field, Chorioretinal degeneration, Rod-cone dystrophy, Pigmenta...	OMIM:312612
Nystagmus 6, Congenital, X-Linked	Hypopigmentation of the fundus, Amblyopia, Retinal pigment epithelial mottling, Reduced visual ac...	OMIM:300814
Ophthalmoplegia, External, And Myopia	Retinal degeneration, Chorioretinal degeneration	OMIM:311000
Central Retinal Vein Occlusion	Large central visual field defect, Visual loss, Retinal neovascularization, Macular degeneration,...	ORPHA:411527
Optic Atrophy 5	Constriction of peripheral visual field, Optic atrophy, Tritanomaly, Central scotoma, Slow decrea...	OMIM:610708
Optic Atrophy--Spastic Paraplegia Syndrome	Optic atrophy	OMIM:311100
Ceroid Lipofuscinosis, Neuronal, 9	Optic atrophy, Rod-cone dystrophy, Progressive visual loss	OMIM:609055
Retinal Capillary Malformation	Vitreous hemorrhage, Retinal exudate, Progressive visual loss, Photopsia, Vitreous floaters, Reti...	ORPHA:71213
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, High myopia, Peripheral vitreoretinal degeneration, Vitreous floaters, Mildly...	OMIM:614292
X-Linked Neurodegenerative Syndrome, Bertini Type	Macular degeneration	ORPHA:85334
Retinal Cone Dystrophy 3A	Photophobia, Dyschromatopsia, High myopia, Cone dystrophy, Reduced visual acuity, Nyctalopia	OMIM:610024
Corneal Dystrophy, Avellino Type	Reduced visual acuity, Visual impairment	OMIM:607541
Nanophthalmos 4	Optic disc drusen, Reduced visual acuity, Hypermetropia	OMIM:615972
Oguchi Disease	Congenital stationary night blindness, Macular degeneration, Mizuo phenomenon, Myopia, Rod-cone d...	ORPHA:75382
Wolfram-Like Syndrome, Autosomal Dominant	Optic atrophy, Blind-spot enlargment, Reduced visual acuity, Severely reduced visual acuity, Opti...	OMIM:614296
Cone-Rod Dystrophy 3	Color vision defect, Visual loss, Central scotoma, Pigmentary retinopathy, Bull's eye maculopathy...	OMIM:604116
Oculorenocerebellar Syndrome	Retinal degeneration	OMIM:257970
Cone-Rod Dystrophy 19	High myopia, Perifoveal ring of hyperautofluorescence, Reduced visual acuity, Cone/cone-rod dystr...	OMIM:615860
Ethanolaminosis	Cardiomegaly	OMIM:227150
Cataract 7	Mildly reduced visual acuity, Visual loss	OMIM:115660
Adult-Onset Foveomacular Vitelliform Dystrophy	Color vision defect, Abnormality of vision, Retinal nonattachment, Choroideremia, Visual field de...	ORPHA:99000
Retinitis Pigmentosa 45	Bone spicule pigmentation of the retina, Macular degeneration, Peripheral visual field loss, Rod-...	OMIM:613767
Multiple Mitochondrial Dysfunctions Syndrome 4	Optic atrophy, Visual impairment	OMIM:616370
Exudative Vitreoretinopathy 4	Posterior vitreous detachment, Retinal exudate, Tractional retinal detachment, Exudative vitreore...	OMIM:601813
Retinitis Pigmentosa 72	Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Photophobia, Hi...	OMIM:616469
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness	Optic atrophy	OMIM:136600
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Tritanomaly, Retinal dystrophy, Reduced visual acuity, Absent foveal reflex, Peripheral retinal a...	OMIM:615147
Optic Atrophy 2	Optic atrophy	OMIM:311050
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Retinal degeneration	OMIM:617173
Congenital Glaucoma	Retinal detachment, Visual loss	ORPHA:98976
Spastic Paraplegia, Optic Atrophy, And Dementia	Constriction of peripheral visual field, Optic atrophy, Optic disc pallor	OMIM:182830
Cone-Rod Dystrophy 8	Photophobia, Macular degeneration, Abnormal optic nerve morphology, Cone/cone-rod dystrophy, Peri...	OMIM:605549
Retinitis Pigmentosa 83	Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Asteroid hyalos...	OMIM:618173
Gyrate Atrophy Of Choroid And Retina	Chorioretinal atrophy, Macular thickening, Visual impairment, Foveoschisis, Myopia, Blindness, Ny...	OMIM:258870
Ceroid Lipofuscinosis, Neuronal, 3	Optic atrophy, Macular degeneration, Reduced visual acuity, Retinal degeneration, Rod-cone dystro...	OMIM:204200
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Optic atrophy, Abnormality of vision	ORPHA:2773
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Visual impairment	ORPHA:2246
Cleft Lip-Retinopathy Syndrome	Retinopathy, Abnormality of retinal pigmentation, Visual impairment	ORPHA:1995
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Macular exudate, Retinal neovascularization, Chorioretinal atrophy, Vitre...	ORPHA:891
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Color vision defect, Photophobia, Central scotoma, Blind-spot enlargment, Reduced visual acuity, ...	OMIM:616732
Intellectual Developmental Disorder And Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:618195
Retinitis Pigmentosa 25	Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Photophobia, Ch...	OMIM:602772
Nystagmus 3, Congenital, Autosomal Dominant	Reduced visual acuity	OMIM:608345
Retinitis Pigmentosa 97	Macular degeneration, Reduced visual acuity, Rod-cone dystrophy, Amblyopia, Nyctalopia	OMIM:620422
Retinitis Pigmentosa 23	Constriction of peripheral visual field, Color vision defect, Photophobia, Mild myopia, Attenuati...	OMIM:300424
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Retinal thinning, Photophobia, Reduced visual acuity, Optic disc pallor	OMIM:618970
Leber Congenital Amaurosis 1	Photophobia, Optic disc drusen, Blindness, Fundus atrophy, Attenuation of retinal blood vessels, ...	OMIM:204000
Retinitis Pigmentosa 14	Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Reduced visual ...	OMIM:600132
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Vitreoretinopathy, Abnormal optic disc morphology, Reduced visual acuity, Retinal vascular tortuo...	ORPHA:440727
Bietti Crystalline Corneoretinal Dystrophy	Constriction of peripheral visual field, High myopia, Progressive night blindness, Chorioretinal ...	OMIM:210370
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Lattice retinal degeneration, Rhegmatogenous retinal detachment	OMIM:619248
Spastic Paraplegia 57, Autosomal Recessive	Optic atrophy, Visual loss	OMIM:615658
Spinocerebellar Ataxia, Autosomal Recessive 12	Optic atrophy, Retinal degeneration	OMIM:614322
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Optic atrophy, Blindness	ORPHA:2787
Cone-Rod Dystrophy 10	Bone spicule pigmentation of the retina, Photophobia, Macular degeneration, Peripheral visual fie...	OMIM:610283
Retinitis Pigmentosa 51	Bone spicule pigmentation of the retina, Photophobia, High myopia, Macular degeneration, Attenuat...	OMIM:613464
Retinitis Pigmentosa 43	Bone spicule pigmentation of the retina, Optic disc pallor, Peripheral visual field loss, Attenua...	OMIM:613810
Jalili Syndrome	Bone spicule pigmentation of the retina, Scotoma, Photophobia, Monochromacy, Cone/cone-rod dystro...	OMIM:217080
Cone-Rod Dystrophy 6	Bone spicule pigmentation of the retina, Photophobia, Dyschromatopsia, Progressive night blindnes...	OMIM:601777
Nephronophthisis 15	Retinal degeneration, Blindness	OMIM:614845
Vitreoretinopathy, Neovascular Inflammatory	Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ...	OMIM:193235
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin	ORPHA:231249
Exudative Vitreoretinopathy 1	Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Blindness,...	OMIM:133780
Acute Zonal Occult Outer Retinopathy	Visual loss, Central scotoma, Marcus Gunn pupil, Visual field defect, Reduced visual acuity, Reti...	ORPHA:284454
Nystagmus 1, Congenital, X-Linked	Mildly reduced visual acuity, Reduced visual acuity	OMIM:310700
Bardet-Biedl Syndrome 21	Constriction of peripheral visual field, Retinal thinning, Hyperautofluorescent macular lesion, R...	OMIM:617406
Retinitis Pigmentosa 56	Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves...	OMIM:613581
Nephronophthisis 14	Retinal degeneration	OMIM:614844
Idiopathic Uveal Effusion Syndrome	Visual field defect, Reduced visual acuity, Exudative retinal detachment, Subretinal fluid, Blurr...	ORPHA:209956
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa	Abnormal fundus morphology, Absent retinal pigment epithelium, Abnormal optic nerve morphology, A...	ORPHA:436274
Retinitis Punctata Albescens	Yellow/white lesions of the retina, Photophobia, Central scotoma, Cystoid macular edema, Progress...	ORPHA:52427
Åland Islands Eye Disease	Color vision defect, Hypoplasia of the fovea, Reduced visual acuity, Difficulty adjusting from li...	ORPHA:178333
Progressive Cone Dystrophy	Visual impairment, Color vision defect, Abnormality of retinal pigmentation, Photophobia	ORPHA:1871
Intellectual Developmental Disorder, Autosomal Dominant 33	Amblyopia, Chorioretinal degeneration	OMIM:616311
Glaucoma 1, Open Angle, F	Increased cup-to-disc ratio, Glaucomatous visual field defect	OMIM:603383
Intrinsic Factor Deficiency	Reduced haptoglobin level, Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic...	OMIM:261000
Night Blindness, Congenital Stationary, Type1I	Tritanomaly, Nyctalopia	OMIM:618555
Late-Onset Retinal Degeneration	Tritanomaly, Drusen, Choroidal neovascularization, Visual loss, Patchy atrophy of the retinal pig...	ORPHA:67042
Macular Degeneration, Age-Related, 3	Macular degeneration, Drusen, Choroidal neovascularization	OMIM:608895
Schizophrenia 15	Hyperactivity	OMIM:613950
Optic Atrophy 7 With Or Without Auditory Neuropathy	Optic atrophy, Constriction of peripheral visual field, Dyschromatopsia, Central scotoma, Reduced...	OMIM:612989
Deafness, Autosomal Recessive 55	Reduced visual acuity	OMIM:609952
Deafness, Autosomal Recessive 47	Reduced visual acuity	OMIM:609946
Chromosome 16Q12 Duplication Syndrome	Tritanomaly, Central thinning of the outer nuclear layer of the retina, Photophobia, Temporal opt...	OMIM:619649
Cone-Rod Dystrophy And Hearing Loss 1	Photophobia, Dyschromatopsia, Macular degeneration, Retinal atrophy, Hemeralopia, Visual impairment	OMIM:617236
Retinitis Pigmentosa 37	Cystoid macular degeneration, Constriction of peripheral visual field, Tritanomaly, Photophobia, ...	OMIM:611131
Retinitis Pigmentosa 46	Constriction of peripheral visual field, Pigmentary retinopathy, Attenuation of retinal blood ves...	OMIM:612572
Intracranial Hypertension, Idiopathic	Papilledema	OMIM:243200
Retinitis Pigmentosa 44	Constriction of peripheral visual field, Attenuation of retinal blood vessels, Rod-cone dystrophy...	OMIM:613769
Stickler Syndrome, Type I, Nonsyndromic Ocular	Myopia, Optically empty vitreous, Rhegmatogenous retinal detachment	OMIM:609508
Leber Hereditary Optic Neuropathy	Optic atrophy, Retinal telangiectasia, Central scotoma, Slow decrease in visual acuity, Retinal v...	ORPHA:104
Chromosome Xq21 Deletion Syndrome	Constriction of peripheral visual field, Chorioretinal degeneration, Chorioretinal atrophy, Choro...	OMIM:303110
Spastic Paraplegia 82, Autosomal Recessive	Optic atrophy, Reduced visual acuity	OMIM:618770
Ceroid Lipofuscinosis, Neuronal, 1	Optic atrophy, Macular degeneration, Retinal degeneration, Progressive visual loss, Blindness	OMIM:256730
Bardet-Biedl Syndrome 4	Retinal degeneration, Rod-cone dystrophy	OMIM:615982
Leber Congenital Amaurosis 15	Constriction of peripheral visual field, Color vision defect, Photophobia, Hypermetropia, Hemeral...	OMIM:613843
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,...	OMIM:616108
Night Blindness, Congenital Stationary, Type 1E	Congenital stationary night blindness, High myopia, Reduced visual acuity, Visual impairment	OMIM:614565
Bornholm Eye Disease	Deuteranopia, Protanopia, High myopia, Optic nerve hypoplasia, Abnormality of retinal pigmentatio...	OMIM:300843
Oculocutaneous Albinism Type 6	Abnormal foveal morphology on macular OCT, Abnormal fundus morphology, Photophobia, Reduced visua...	ORPHA:370097
X-Linked Neurodegenerative Syndrome, Hamel Type	Blindness	ORPHA:85336
Oliver-Mcfarlane Syndrome	Retinal degeneration, Pigmentary retinopathy	OMIM:275400
Bardet-Biedl Syndrome 13	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615990
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia, Hyperuricemia	ORPHA:371
Spondylometaphyseal Dysplasia, Axial	Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy	OMIM:602271
Bardet-Biedl Syndrome 2	Retinal degeneration, Rod-cone dystrophy	OMIM:615981
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Reduced visual acuity, Retinal dystrophy, Nyctalopia	OMIM:610156
Bardet-Biedl Syndrome 16	Retinal degeneration, Rod-cone dystrophy	OMIM:615993
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Severe Early-Childhood-Onset Retinal Dystrophy	Color vision defect, Bone spicule pigmentation of the retina, Optic disc drusen, Rhegmatogenous r...	ORPHA:364055
Spastic Ataxia 7, Autosomal Dominant	Optic atrophy	OMIM:108650
Diabetes And Deafness, Maternally Inherited	Retinal degeneration, Pigmentary retinopathy	OMIM:520000
Blue Cone Monochromatism	Blue cone monochromacy, Abnormality of retinal pigmentation, Photophobia, Visual impairment	ORPHA:16
Gyrate Atrophy Of Choroid And Retina	Constriction of peripheral visual field, Chorioretinal hyperpigmentation, Chorioretinal degenerat...	ORPHA:414
Early-Onset X-Linked Optic Atrophy	Optic atrophy, Color vision defect, Decreased nerve conduction velocity, Central scotoma, Reduced...	ORPHA:98890
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
Albinism, Oculocutaneous, Type Vi	Visual impairment, Hypoplasia of the fovea, Reduced visual acuity, Photophobia	OMIM:113750
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Vitritis, Vitreous floaters, Retinal pigment epithelial atroph...	OMIM:605808
Eales Disease	Retinal thinning, Peripheral retinal neovascularization, Cystoid macular edema, Photopsia, Vitreo...	ORPHA:40923
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ...	OMIM:305390
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Retinal arterial macroaneurysms, Exudative retinal detachment	OMIM:614224
Autosomal Recessive Spastic Paraplegia Type 45	Optic atrophy, Myopia	ORPHA:320396
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Retinal detachment, Congenital blindness	ORPHA:436182
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina, Hemeralopia, Myop...	OMIM:257270
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Optic atrophy, Visual loss	OMIM:611726
Optic Atrophy 1	Optic atrophy, Tritanomaly, Central scotoma, Red-green dyschromatopsia, Reduced visual acuity, Ce...	OMIM:165500
Retinitis Pigmentosa 75	Bone spicule pigmentation of the retina, Peripheral visual field loss, Attenuation of retinal blo...	OMIM:617023
Autosomal Recessive Spastic Paraplegia Type 74	Optic atrophy, Peripheral axonal neuropathy, Visual field defect, Visual impairment	ORPHA:468661
Aland Island Eye Disease	Protanopia, Hypoplasia of the fovea, Myopia, Hypopigmentation of the fundus, Severely reduced vis...	OMIM:300600
Spastic Paraplegia 81, Autosomal Recessive	Optic atrophy, Reduced visual acuity, Cerebral visual impairment, Retinal vascular tortuosity	OMIM:618768
Narp Syndrome	Constriction of peripheral visual field, Blindness, Retinal pigment epithelial mottling, Abnormal...	ORPHA:644
Leber Congenital Amaurosis 3	Constriction of peripheral visual field, Visual loss, Nyctalopia	OMIM:604232
Iris Pigment Layer, Cleavage Of	Peripheral retinal detachment	OMIM:147610
Lesch-Nyhan Syndrome	Anemia, Hyperuricemia	ORPHA:510
Achromatopsia 2	Retinal thinning, Achromatopsia, Photophobia, Hemeralopia, Peripapillary atrophy, Hypoplasia of t...	OMIM:216900
Cherubism	Optic atrophy, Progressive visual loss, Visual impairment	ORPHA:184
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu...	OMIM:616689
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Retinal degeneration, Pigmentary retinopathy	ORPHA:3363
Cerebral Sclerosis, Diffuse, Scholz Type	Blindness	OMIM:302700
8p23.1 deletion syndrome	Hyperactivity, Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology	DECIPHER:39
Corneal Dystrophy, Gelatinous Drop-Like	Visual impairment, Reduced visual acuity, Photophobia, Blurred vision	OMIM:204870
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration	OMIM:193230
Vitreoretinochoroidopathy	Color vision defect, Dyschromatopsia, Retinal detachment, Abnormality of chorioretinal pigmentati...	OMIM:193220
Congenital Dyserythropoietic Anemia Type Iii	Increased total iron binding capacity, Anemia, Melena, Increased mean corpuscular volume, Hyperbi...	ORPHA:98870
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Night Blindness, Congenital Stationary, Type 1H	Mild myopia, Nyctalopia, Photophobia, Hypermetropia	OMIM:617024
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula...	ORPHA:3202
Ceroid Lipofuscinosis, Neuronal, 5	Retinal degeneration	OMIM:256731
Morning Glory Disc Anomaly	Retinal detachment, Abnormality of retinal pigmentation, Amblyopia, Optic disc coloboma	ORPHA:35737
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Photoreceptor layer loss on macular OCT, Peripheral visual field loss, Attenuat...	OMIM:145350
Optic Pathway Glioma	Optic atrophy, Visual loss, Papilledema, Visual field defect, Reduced visual acuity, Neurofibroma...	ORPHA:2086
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
3-Methylglutaconic Aciduria, Type Iii	Optic atrophy, Reduced visual acuity, Visual impairment	OMIM:258501
Cone-Rod Synaptic Disorder, Congenital Nonprogressive	Congenital stationary night blindness, Color vision defect, Photophobia, Visual impairment	OMIM:610427
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Chromosome Xp11.3 Deletion Syndrome	Optic atrophy, Moderate myopia, Constriction of peripheral visual field, Blindness, Attenuation o...	OMIM:300578
Night Blindness, Congenital Stationary, Type 2A	Congenital stationary night blindness, Reduced visual acuity, Visual impairment	OMIM:300071
Dermochondrocorneal Dystrophy	Reduced visual acuity	ORPHA:79149
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal dystrophy, Retinal detachment, Abnormality of retinal pigmentation, Visual impairment, Ch...	OMIM:251270
Myopia 28, Autosomal Recessive	Retinal detachment, High myopia	OMIM:619781
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Optic atrophy, Onion bulb formation, Rod-cone dystrophy, Progressive visual loss, Segmental perip...	OMIM:311070
Spastic Ataxia-Corneal Dystrophy Syndrome	Optic atrophy, Myopia	ORPHA:2572
Familial Pseudohyperkalemia	Hyperkalemia, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stom...	ORPHA:90044
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Canavan Disease	Optic atrophy, Abnormality of retinal pigmentation, Blindness, Visual impairment	ORPHA:141
Retinitis Pigmentosa	Optic atrophy, Bone spicule pigmentation of the retina, Photophobia, Progressive night blindness,...	ORPHA:791
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia	OMIM:617056
Exudative Vitreoretinopathy 6	Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the retinal pigment epithelium,...	OMIM:616468
Enhanced S-Cone Syndrome	Vitreoretinopathy, Hemeralopia, Retinoschisis, Macular edema, Pigmentary retinopathy, Nyctalopia	OMIM:268100
Bardet-Biedl Syndrome 3	Visual impairment, Rod-cone dystrophy, Pigmentary retinopathy, Nyctalopia	OMIM:600151
Homocarnosinosis	Abnormality of retinal pigmentation	OMIM:236130
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Anemia, Pancytopenia, Hyperuricemia, Increased blood urea nitrogen, Hyponatremia, Failure to thri...	OMIM:613845
Abetalipoproteinemia	Retinopathy, Retinal degeneration	OMIM:200100
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hypercholesterolemia, Splenomegaly, Hyperuricemia	OMIM:306000
Leber Congenital Amaurosis 8	Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Choriocapillaris at...	OMIM:613835
Anemia, Hypochromic Microcytic, With Iron Overload 1	Anemia, Hypochromia, Elevated hepatic iron concentration, Increased circulating iron concentratio...	OMIM:206100
Olivopontocerebellar Atrophy-Deafness Syndrome	Optic atrophy, Chorioretinal coloboma	ORPHA:2732
Jalili Syndrome	Optic atrophy, Color vision defect, Photophobia, Abnormality of retinal pigmentation, Visual impa...	ORPHA:1873
Amaurosis-Hypertrichosis Syndrome	Optic atrophy, Photophobia, Retinal dystrophy, Cone/cone-rod dystrophy, High hypermetropia, Visua...	ORPHA:1021
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Visual loss, Blindness	ORPHA:171844
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia...	OMIM:619041
Developmental And Epileptic Encephalopathy 58	Optic atrophy, Visual impairment	OMIM:617830
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Optic Nerve Hypoplasia, Bilateral	Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Optic nerve aplasia, Reduced vis...	OMIM:165550
Migraine, Familial Hemiplegic, 3	Blindness, Photophobia	OMIM:609634
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity	Optic atrophy	OMIM:618572
Poretti-Boltshauser Syndrome	Retinal thinning, Retinal dystrophy, Retinal atrophy, Myopia, Amblyopia	OMIM:615960
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Severely reduced visual acuity, Chorioretinal coloboma, Moderately reduced visual acuity, Retinal...	ORPHA:2921
Nephronophthisis 9	Retinal degeneration	OMIM:613824
Spinocerebellar Ataxia 7	Optic atrophy, Macular degeneration, Pigmentary retinopathy	OMIM:164500
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy, Reduced visual acuity	OMIM:616722
Retinal Dystrophy With Or Without Macular Staphyloma	Bone spicule pigmentation of the retina, Retinal dystrophy, Photophobia, Central scotoma, Attenua...	OMIM:617547
Bardet-Biedl Syndrome 5	Macular dystrophy, Rod-cone dystrophy, Reduced visual acuity	OMIM:615983
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Anemia, Hyperuricemia	OMIM:613092
Glycogen Storage Disease Vii	Hyperuricemia, Elevated circulating creatine kinase concentration, Reticulocytosis, Increased tot...	OMIM:232800
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Spasticity, Childhood-Onset, With Hyperglycinemia	Optic atrophy, Visual impairment	OMIM:616859
Mucolipidosis Iv	Optic atrophy, Retinal degeneration, Photophobia, Visual impairment	OMIM:252650
Spastic Paraplegia 43, Autosomal Recessive	Optic atrophy	OMIM:615043
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Oculocutaneous Albinism, Type Viii	Chorioretinal hypopigmentation, Hypoplasia of the fovea, Reduced visual acuity, Photophobia	OMIM:619165
Night Blindness, Congenital Stationary, Type 1C	Congenital stationary night blindness, Myopia, Reduced visual acuity	OMIM:613216
Cataract 50 With Or Without Glaucoma	Retinal detachment	OMIM:620253
Opticocochleodentate Degeneration	Optic atrophy, Visual loss	OMIM:258700
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Optic Atrophy 8	Optic atrophy, Visual loss, Central scotoma, Abnormal auditory evoked potentials, Prolonged somat...	OMIM:616648
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Macrocytic anemia, Hyperuricemia, Diarrhea, Constipation, Hyponatremia, Failur...	ORPHA:199299
Seizures, Cortical Blindness, And Microcephaly Syndrome	Optic atrophy, Cerebral visual impairment	OMIM:616632
Glycogen Storage Disease Ixb	Diarrhea, Splenomegaly, Hyperuricemia	OMIM:261750
N-Acetylglutamate Synthase Deficiency	Hypothermia, Hyperglutamatemia, Hyperalaninemia, Vomiting, Hyperammonemia, Failure to thrive, Low...	OMIM:237310
Stickler Syndrome Type 2	Retinal detachment, Abnormal vitreous humor morphology, Myopia, Retinopathy	ORPHA:90654
Mucous Membrane Pemphigoid	Blindness	ORPHA:46486
Idiopathic Panuveitis	Choroidal neovascularization, Photophobia, Cystoid macular edema, Vitreous floaters, Abnormality ...	ORPHA:280921
Neovascular Glaucoma	Visual loss, Photophobia, Retinal detachment, Retinal vascular proliferation, Abnormal optic nerv...	ORPHA:94058
Retinitis Pigmentosa And Erythrocytic Microcytosis	Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Retinal atrophy...	OMIM:616959
Hsd10 Mitochondrial Disease	Optic atrophy, Retinal degeneration	OMIM:300438
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Optic atrophy, Hypoplasia of the fovea	OMIM:620086
Juvenile Glaucoma	Temporal optic disc pallor, Retinal arterial occlusion, Central scotoma, High myopia, Optic neuro...	ORPHA:98977
Diamond-Blackfan Anemia 3	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:300946
Sjogren-Larsson Syndrome	Macular dots, Retinal thinning, Color vision defect, Photophobia, Macular degeneration, Macular c...	OMIM:270200
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Hypoalbuminemi...	OMIM:617021
Hypotrichosis With Juvenile Macular Degeneration	Abnormality of macular pigmentation, Macular degeneration, Blindness	ORPHA:1573
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Hypothermia, Lethargy	OMIM:615026
Lesch-Nyhan Phenotype With Normal Hgprt	Choreoathetosis, Hyperuricemia	OMIM:308950
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Optic atrophy, Tritanomaly, Dyschromatopsia, Central scotoma, Red-green dyschromatopsia, Abnormal...	OMIM:125250
Corneal Dystrophy, Lattice Type Iiia	Reduced visual acuity, Visual impairment	OMIM:608471
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Optic atrophy, Facial palsy, Visual impairment	ORPHA:178377
Microphthalmia, Isolated 6	High hypermetropia, Amblyopia, Retinal fold	OMIM:613517
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Hyperhomocystinemia, Vomiting...	ORPHA:2169
Late-Onset Familial Hypoaldosteronism	Hyperkalemia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Increas...	ORPHA:556037
Burkitt Lymphoma	Intestinal obstruction, Gastrointestinal hemorrhage, Hyperuricemia, Decreased proportion of CD4-p...	ORPHA:543
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Reduced visual acuity, Central retinal vessel vascular tortuosity, Retinal pigment epithelial mot...	ORPHA:506353
Spastic Paraplegia 45, Autosomal Recessive	Optic atrophy, Myopia	OMIM:613162
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Decreased sensory nerve conduction velocity, Bone spicule pigmentation of the reti...	OMIM:609033
Retinitis Pigmentosa 59	Constriction of peripheral visual field, Cystoid macular edema, Reduced visual acuity, Rod-cone d...	OMIM:613861
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut...	OMIM:616216
Idiopathic Congenital Hypothyroidism	Constipation, Hypothermia, Lethargy, Neonatal hyperbilirubinemia	ORPHA:95717
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Optic nerve hypoplasia, Myopia, Blindness	OMIM:615181
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hypokalemia, Reticulocytosis, Failure to thrive, Hepatosplenomegaly, Decreased mean corpuscular v...	OMIM:611590
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hyperhomocystinemia, Increased mean corpuscular volume, Megaloblastic ane...	OMIM:277410
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Rod-cone dystrophy, Reduced visual acuity	OMIM:619082
Cherubism	Marcus Gunn pupil, Macular scar, Optic neuropathy	OMIM:118400
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)	Optic atrophy, Peripheral axonal neuropathy, Visual loss	OMIM:619425
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Reduced visual acuity, Rod-cone dystrophy, Macular atrophy, Optic disc pallor	OMIM:615434
Coats Disease	Retinal detachment, Abnormal macular morphology, Abnormal retinal vascular morphology	ORPHA:190
Atypical Pantothenate Kinase-Associated Neurodegeneration	Retinopathy, Optic atrophy, Blindness	ORPHA:216873
Retinitis Pigmentosa 89	Constriction of peripheral visual field, Retinal thinning, Hyperautofluorescent retinal lesion, R...	OMIM:618955
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
Bone Marrow Failure And Diabetes Mellitus Syndrome	Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia	OMIM:620044
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Optic atrophy, Retinal degeneration	OMIM:616896
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia	OMIM:612563
Sandhoff Disease	Cherry red spot of the macula, Blindness	ORPHA:796
Retinitis Pigmentosa 87 With Choroidal Involvement	Bone spicule pigmentation of the retina, Chorioretinal atrophy, Peripheral visual field loss, Num...	OMIM:618697
Retinal Dystrophy And Microvillus Inclusion Disease	Severely reduced visual acuity, Optic disc pallor	OMIM:619446
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome	Optic atrophy, Retrobulbar optic neuritis, Diplopia	ORPHA:3151
Nescav Syndrome	Optic atrophy, Peripheral axonal neuropathy, Cerebral visual impairment	OMIM:614255
Anemia, Hypochromic Microcytic, With Iron Overload 2	Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron concentration, S...	OMIM:615234
3-Hydroxy-3-Methylglutaric Aciduria	Hypothermia, Anemia, Episodic vomiting, Hyperuricemia, Diarrhea, Leukocytosis, Fever, Hyperammone...	ORPHA:20
Leber Congenital Amaurosis 6	Attenuation of retinal blood vessels, High hypermetropia, Severely reduced visual acuity, Photoph...	OMIM:613826
Congenital Disorder Of Glycosylation, Type Iaa	Attenuation of retinal blood vessels, Cerebral visual impairment, Optic disc pallor	OMIM:617082
Leg, Absence Deformity Of, With Congenital Cataract	Optic nerve dysplasia, Visual impairment	OMIM:246000
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anemia, Hypochromia, Elevated hepatic iron concentration, Anisocytosis, Hepatosplenomegaly, Splen...	OMIM:616860
Oculocutaneous Albinism Type 5	Abnormal fundus morphology, Photophobia, Hypoplasia of the fovea, Reduced visual acuity, Ocular a...	ORPHA:370091
Foveal Hypoplasia 2	Hypoplasia of the fovea, Optic nerve misrouting, Foveal hyperpigmentation, Reduced visual acuity	OMIM:609218
Smith-Magenis syndrome	Hyperactivity, Self-mutilation, Motor stereotypy	DECIPHER:8
Behr Syndrome	Optic atrophy, Sensory axonal neuropathy, Blindness, Hypoplastic optic chiasm, Progressive visual...	OMIM:210000
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Beta-Ketothiolase Deficiency	Hyperuricemia, Diarrhea, Leukocytosis, Vomiting, Hyperammonemia, Fever, Ataxia, Weight loss, Thro...	ORPHA:134
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Macular degeneration, Choroidal neovascularization	ORPHA:404451
Spastic Paraplegia 55, Autosomal Recessive	Optic atrophy, Central scotoma, Peripheral axonal neuropathy, Reduced visual acuity, Onion bulb f...	OMIM:615035
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:141000
Corticosterone Methyloxidase Type I Deficiency	Hyperkalemia, Vomiting, Hyponatremia, Recurrent fever, Increased circulating renin level, Failure...	OMIM:203400
Bardet-Biedl Syndrome 9	Attenuation of retinal blood vessels, Retinal degeneration, Bone spicule pigmentation of the reti...	OMIM:615986
Coloboma Of Macula	Macular coloboma	OMIM:120300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Retinal dysplasia	OMIM:614830
Majeed Syndrome	Anemia of inadequate production, Failure to thrive, Recurrent fever, Hepatosplenomegaly, Decrease...	OMIM:609628
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Severely reduced visual acuity, Abnormal optic disc morphology	ORPHA:65
Sarcosinemia	Optic atrophy, Congenital blindness	ORPHA:3129
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor, Decreased number of large periphe...	OMIM:617087
Stickler Syndrome, Type V	Retinal detachment, Vitreoretinopathy, High myopia	OMIM:614284
Infantile-Onset Spinocerebellar Ataxia	Optic atrophy, Abnormality of the autonomic nervous system	ORPHA:1186
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2	Optic atrophy, Optic disc pallor, Visual impairment	OMIM:617086
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Hyperuricemia	OMIM:609886
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Macrocytic anemia	OMIM:612561
Cataract 11, Multiple Types	Blindness	OMIM:610623
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Elevated circulating creatine kinase concentration, Fever, Hyperphosphatemia, Malig...	OMIM:154275
Leukoencephalopathy With Ataxia	Choroidal neovascularization, Chorioretinal atrophy, Retinoschisis, Optic neuropathy, Visual fiel...	OMIM:615651
Spastic Paraplegia 11, Autosomal Recessive	Macular degeneration, Retinal degeneration	OMIM:604360
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Retinal dystrophy, Hypermetropia, Retinal atrophy, Myopia, Amblyopia	ORPHA:370022
Cone-Rod Dystrophy And Hearing Loss 2	Reduced visual acuity, Photophobia	OMIM:618358
Retinitis Pigmentosa 74	Constriction of peripheral visual field, Optic disc pallor, Reduced visual acuity, Rod-cone dystr...	OMIM:616562
Overhydrated Hereditary Stomatocytosis	Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Stomatocyto...	OMIM:185000
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Retinal degeneration, Cone/cone-rod dystrophy	OMIM:249270
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia	OMIM:618849
Aceruloplasminemia	Retinal degeneration	OMIM:604290
Wolfram Syndrome, Mitochondrial Form	Optic atrophy, Abnormal autonomic nervous system physiology, Blindness	OMIM:598500
Sickle Cell Anemia	Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis...	ORPHA:232
Lactic Acidosis, Chronic Adult Form	Hyperuricemia	OMIM:150170
Intellectual Developmental Disorder, X-Linked 109	Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic...	OMIM:309548
Leber Optic Atrophy	Optic atrophy, Central retinal vessel vascular tortuosity, Visual loss, Optic neuropathy, Leber o...	OMIM:535000
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Abnormal chorioretinal morphology, Visual loss, Photophobia, Chorioretinal atrophy, Retinopathy, ...	ORPHA:5
Severe Canavan Disease	Optic atrophy, Blindness	ORPHA:314911
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Elevated circulating creatine kinase concentration, Fever, Hyperphosphatemia, Malig...	OMIM:154276
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Optic atrophy	ORPHA:1538
Phosphoribosylpyrophosphate Synthetase Superactivity	Ataxia, Hyperuricemia	ORPHA:3222
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Ataxia	OMIM:613839
Corticosterone Methyloxidase Type Ii Deficiency	Hyperkalemia, Increased circulating corticosterone level, Increased circulating renin level, Incr...	OMIM:610600
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Achromatopsia 3	Achromatopsia, Photophobia, Monochromacy, High myopia, Dyschromatopsia, Severely reduced visual a...	OMIM:262300
Fraxe Intellectual Disability	Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic...	ORPHA:100973
Spastic Paraplegia 15, Autosomal Recessive	Macular degeneration, Peripheral axonal neuropathy, Reduced visual acuity, Retinal degeneration, ...	OMIM:270700
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Macular coloboma, Geographic atrophy, High myopia, Abnormal auditory evoked potentials, Attenuati...	OMIM:619260
Sjögren-Larsson Syndrome	Retinopathy, Macular degeneration, Abnormality of retinal pigmentation	ORPHA:816
Spontaneous Periodic Hypothermia	Diarrhea, Hypothermia, Ataxia, Gait disturbance	ORPHA:29822
Osteoporosis-Pseudoglioma Syndrome	Abnormal vitreous humor morphology, Retinal detachment, Exudative retinopathy, Congenital blindne...	ORPHA:2788
Developmental And Epileptic Encephalopathy 16	Optic atrophy, Visual loss	OMIM:615338
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Motor stereotypy	OMIM:300271
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic atrophy, Retinopathy, Visual impairment, Macular atrophy, Optic disc pallor	OMIM:616171
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia, Hemolytic anemia	OMIM:609153
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Retinal detachment, Chorioretinal coloboma, Visual impairment	ORPHA:1473
Acute Adrenal Insufficiency	Hyperkalemia, Normocytic anemia, Hyperuricemia, Diarrhea, Increased circulating renin level, Hypo...	ORPHA:95409
Neuroleptic Malignant Syndrome	Hyperkalemia, Hypothermia, Hyperuricemia, Hypocalcemia, Leukocytosis, Elevated circulating creati...	ORPHA:94093
Autosomal Recessive Spastic Paraplegia Type 57	Optic atrophy, Abnormality of peripheral nerve conduction	ORPHA:431329
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyperkalemia, Diarrhea, Increased circulating renin level, Hyponatremia, Vomiting, Failure to thr...	OMIM:177735
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease	Papilledema, Retinal arteriolar constriction	OMIM:124950
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy	Blindness	OMIM:607674
Salt And Pepper Developmental Regression Syndrome	Optic atrophy, Cerebral visual impairment, Visual loss	OMIM:609056
Leukodystrophy, Hypomyelinating, 14	Blindness	OMIM:617899
Congenital Disorder Of Glycosylation With Defective Fucosylation 2	Optic atrophy, Cerebral visual impairment, Visual impairment	OMIM:618324
Spinocerebellar Ataxia, Autosomal Recessive 29	Peripheral axonal neuropathy, Retinal pigment epithelial mottling, Optic disc pallor	OMIM:619389
Albinism, Ocular, Type I	Photophobia, Depigmented fundus, Hypoplasia of the fovea, Reduced visual acuity, Ocular albinism	OMIM:300500
Alg6-Cdg	Retinal degeneration, Rod-cone dystrophy	ORPHA:79320
Refractory Anemia With Excess Blasts	Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ...	ORPHA:86839
Ceroid Lipofuscinosis, Neuronal, 10	Retinal atrophy, Rod-cone dystrophy	OMIM:610127
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio	OMIM:613978
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Optic atrophy, Myopia	OMIM:613151
Primary Erythromelalgia	Hypothermia, Leukemia	ORPHA:90026
Glaucoma, Primary Closed-Angle	Increased cup-to-disc ratio, Visual field defect	OMIM:618880
Distal 16P11.2 Microdeletion Syndrome	Obesity, Chronic constipation, Hyperuricemia	ORPHA:261222
Retinal Dystrophy With Or Without Extraocular Anomalies	Reduced visual acuity, Retinal dystrophy	OMIM:617175
Glycogen Storage Disease Due To Aldolase A Deficiency	Hyperkalemia, Fever, Elevated creatine kinase after exercise, Hemolytic anemia	ORPHA:57
Hyperchlorhidrosis, Isolated	Hyperkalemia, Hyponatremia, Failure to thrive	OMIM:143860
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Myopia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Nyctalopia	ORPHA:1390
Retinal Arteries, Tortuosity Of	Retinal hemorrhage, Visual loss, Retinal arteriolar tortuosity, Photophobia	OMIM:180000
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hypothermia, Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase concentration, V...	ORPHA:26793
Usher Syndrome Type 3	Visual loss, Scotoma, Hemianopia, High hypermetropia, Nyctalopia	ORPHA:231183
Glaucoma 3, Primary Congenital, E	Increased cup-to-disc ratio	OMIM:617272
Macrophthalmia, Colobomatous, With Microcornea	Reduced visual acuity, Chorioretinal coloboma, Optic disc coloboma, Myopia, Macular atrophy	OMIM:602499
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
Aniridia 2	Optic atrophy, Amblyopia	OMIM:617141
Corneal Dystrophy, Epithelial Basement Membrane	Reduced visual acuity	OMIM:121820
Madras Motor Neuron Disease	Optic atrophy, Facial palsy, Reduced visual acuity, Visual impairment	ORPHA:137867
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Anemia, Episodic vomiting, Decreased circulating carnitine concentration, Hyperuricemia, Diarrhea...	OMIM:246450
Juvenile Neuronal Ceroid Lipofuscinosis	Large central visual field defect, Visual loss, Pigmentary retinopathy, Optic disc pallor, Retina...	ORPHA:79264
Glycogen Storage Disease V	Elevated circulating creatine kinase concentration, Hyperuricemia	OMIM:232600
Congenital Enterovirus Infection	Hypothermia, Anemia, Abnormal macrophage morphology, Leukocytosis, Fever, Hyperammonemia, Leukope...	ORPHA:292
Morgagni-Stewart-Morel Syndrome	Obesity, Hypercholesterolemia, Hyperuricemia	ORPHA:77296
Gaisböck Syndrome	Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Increased mean ...	ORPHA:90041
Beta-Thalassemia, Dominant Inclusion Body Type	Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc...	OMIM:603902
Neuroectodermal Melanolysosomal Disease	Optic atrophy, Macular dystrophy, Abnormal optic nerve morphology, Myopia, Aplasia/Hypoplasia of ...	ORPHA:33445
Camos Syndrome	Optic atrophy	ORPHA:83472
Early-Onset Familial Hypoaldosteronism	Hyperkalemia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Increas...	ORPHA:556030
Myopia 22, Autosomal Dominant	High myopia, Reduced visual acuity	OMIM:615420
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Anemia, Abnormal hemoglobin	ORPHA:3319
Hypobetalipoproteinemia, Familial, 1	Retinal degeneration, Rod-cone dystrophy	OMIM:615558
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Hypothermia, Normochromic anemia, Elevated circulating creatine kinase concentration, Thrombocyto...	OMIM:618775
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyperkalemia, Diarrhea, Vomiting, Hyponatremia, Failure to thrive, Hyperaldosteronism	OMIM:264350
Familial Thyroid Dyshormonogenesis	Hypothermia, Abnormal circulating thyroglobulin concentration, Constipation, Neonatal hyperbiliru...	ORPHA:95716
Sepsis In Premature Infants	Hypothermia, Anemia, Elevated circulating C-reactive protein concentration, Diarrhea, Decreased b...	ORPHA:90051
Infantile Refsum Disease	Optic atrophy, Constriction of peripheral visual field, Facial palsy, Rod-cone dystrophy, Visual ...	ORPHA:772
Classic Pantothenate Kinase-Associated Neurodegeneration	Blindness, Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy	ORPHA:216866
Striatonigral Degeneration, Infantile	Optic atrophy	OMIM:271930
X-Linked Spinocerebellar Ataxia Type 3	Optic atrophy	ORPHA:85297
Bardet-Biedl Syndrome 17	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Retinal degeneration, Rod-cone ...	OMIM:615994
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Optic atrophy, Visual loss, Peripheral axonal neuropathy, Visual impairment, Progressive visual l...	OMIM:601338
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium	ORPHA:1433
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Myopia 23, Autosomal Recessive	High myopia, Reduced visual acuity, Visual impairment	OMIM:615431
Senior-Loken Syndrome 9	Macular degeneration, Rod-cone dystrophy, Retinal dystrophy	OMIM:616629
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Fever, Elevated circulating creatine kinase concentration	OMIM:268200
Refsum Disease, Classic	Retinal degeneration, Rod-cone dystrophy	OMIM:266500
Craniotelencephalic Dysplasia	Optic atrophy, Septo-optic dysplasia, Visual impairment	ORPHA:1528
Musk, Inability To Smell	Blindness	OMIM:254150
Leber Optic Atrophy And Dystonia	Optic atrophy, Visual loss, Leber optic atrophy	OMIM:500001
Fuchs Heterochromic Iridocyclitis	Photophobia, Vitreous floaters, Chorioretinal scar, Optic disc pallor, Best corrected visual acui...	ORPHA:263479
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypothermia, Lethargy	OMIM:610006
Leukoencephalopathy With Vanishing White Matter 1	Optic atrophy, Blindness	OMIM:603896
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Macular coloboma, Coarctation of aorta, Retinal coloboma	OMIM:107550
Lipodystrophy, Familial Partial, Type 3	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia	OMIM:604367
Idiopathic Intracranial Hypertension	Visual loss, Photophobia, Papilledema, Blurred vision, Scintillating scotoma, Diplopia	ORPHA:238624
Addison Disease	Hyperkalemia, Normocytic anemia, Hyperuricemia, Diarrhea, Increased circulating renin level, Hypo...	ORPHA:85138
Lesch-Nyhan Syndrome	Hyperuricemia, Megaloblastic anemia, Vomiting, Dysphagia, Choreoathetosis	OMIM:300322
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyperkalemia, Increased circulating renin level, Hyponatremia, Vomiting, Hyperaldosteronism	OMIM:620126
Merrf	Optic atrophy	ORPHA:551
Progressive Myoclonic Epilepsy With Dystonia	Optic atrophy, Poor visual behavior for age	ORPHA:352596
Peroxisome Biogenesis Disorder 9B	Constriction of peripheral visual field, Rod-cone dystrophy, Reduced visual acuity, Nyctalopia	OMIM:614879
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome	Optic atrophy, Peripheral axonal neuropathy	ORPHA:496756
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Hyperactivity, Self-injurious behavior, Aggressive behavior	OMIM:619031
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Anemia, Decreased transferrin saturation, Reticulocytopenia, Elevated hepati...	ORPHA:300298
Norrie Disease	Optic atrophy, Retinal dysplasia, Retinal detachment, Blindness, Retinal fold	OMIM:310600
Usher Syndrome Type 1	Visual loss, Scotoma, Hemianopia, High hypermetropia, Nyctalopia	ORPHA:231169
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Retinal degeneration	ORPHA:542306
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Hypertaurinemia, Failure to thrive, Hyperglycinemia, Hypothermia	OMIM:245400
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth	Optic atrophy	OMIM:619323
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Macular atrophy, Chorioretinal coloboma, Retinal dystrophy	OMIM:212550
Scheie Syndrome	Retinal degeneration	OMIM:607016
Cancer-Associated Retinopathy	Optic atrophy, Granular macular appearance, Constriction of peripheral visual field, Adult-onset ...	ORPHA:71505
Lamb-Shaffer Syndrome	Optic atrophy, Myopia	OMIM:616803
Autosomal Dominant Optic Atrophy Plus Syndrome	Optic atrophy, Constriction of peripheral visual field, Temporal optic disc pallor, Absent brains...	ORPHA:1215
Canavan Disease	Optic atrophy, Blindness, Visual impairment	OMIM:271900
Hereditary Fructose Intolerance	Hypermagnesemia, Hyperuricemia, Diarrhea, Vomiting, Nausea, Constipation, Hypophosphatemia, Lethargy	ORPHA:469
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Craniodiaphyseal Dysplasia, Autosomal Dominant	Optic atrophy, Papilledema, Facial diplegia, Progressive visual loss	OMIM:122860
Hyperkalemic Periodic Paralysis	Hyperkalemia, Hypokalemia, Elevated circulating creatine kinase concentration, Bowel incontinence...	ORPHA:682
Coenzyme Q10 Deficiency, Primary, 5	Hypothermia, Hyperalaninemia	OMIM:614654
Intellectual Developmental Disorder, X-Linked 101	Optic atrophy	OMIM:300928
Coloboma, Ocular, Autosomal Recessive	Reduced visual acuity, Optic disc coloboma, Retinal coloboma	OMIM:216820
Developmental And Epileptic Encephalopathy 78	Hypothermia, Inability to walk	OMIM:618557
Pontocerebellar Hypoplasia Type 10	Optic atrophy, Visual impairment	ORPHA:411493
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Familial Hypoaldosteronism	Hyperkalemia, Diarrhea, Increased circulating renin level, Hyponatremia, Recurrent fever, Failure...	ORPHA:427
Yoon-Bellen Neurodevelopmental Syndrome	Optic atrophy, Visual impairment	OMIM:619701
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, ...	OMIM:613179
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v...	ORPHA:3203
Anemia, Congenital Dyserythropoietic, Type Iv	Reduced hematocrit, Anemia, Reduced haptoglobin level, Hyperbilirubinemia, Anemia of inadequate p...	OMIM:613673
Leukoencephalopathy With Vanishing White Matter 2	Optic atrophy	OMIM:620312
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Hyperphosphatemia, Malignant hyperthermia, Elevated circulating creatine kinase con...	OMIM:145600
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome	Optic atrophy, Cerebral visual impairment, Visual field defect, Reduced visual acuity, Optic disc...	OMIM:615722
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Optic atrophy, Cerebral visual impairment	ORPHA:477814
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Optic atrophy, Decreased sensory nerve conduction velocity, Decreased number of peripheral myelin...	OMIM:609260
Senior-Loken Syndrome 4	Amblyopia, Rod-cone dystrophy, Severely reduced visual acuity	OMIM:606996
Meningococcal Meningitis	Hypothermia, Elevated circulating C-reactive protein concentration, Projectile vomiting, Fever, L...	ORPHA:33475
Krabbe Disease	Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity, Blindness	OMIM:245200
Renal Coloboma Syndrome	Optic nerve dysplasia, Retinal coloboma, Optic disc coloboma, Myopia, Visual impairment	ORPHA:1475
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity	OMIM:301008
Albinism, Oculocutaneous, Type Ii	Hypoplasia of the fovea, Reduced visual acuity, Myopia, Hypopigmentation of the fundus, Visual im...	OMIM:203200
Spinocerebellar Ataxia, Autosomal Recessive 3	Blindness	OMIM:271250
Joubert Syndrome 6	Retinal degeneration, Chorioretinal coloboma	OMIM:610688
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Macular degeneration	OMIM:619780
Osteopetrosis, Autosomal Recessive 9	Hyperkalemia, Elevated circulating creatinine concentration, Anemia	OMIM:620366
Mitochondrial Complex I Deficiency, Nuclear Type 34	Optic atrophy, Optic disc pallor	OMIM:618776
Leukoencephalopathy With Vanishing White Matter 4	Optic atrophy	OMIM:620314
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase	Hyperuricemia	OMIM:240000
Trichothiodystrophy 6, Nonphotosensitive	Broad-based gait, Small for gestational age, Increased HbA2 hemoglobin, Decreased mean corpuscula...	OMIM:616943
Dopamine Beta-Hydroxylase Deficiency	Hypothermia, Anemia, Diarrhea, Increased blood urea nitrogen, Vomiting, Elevated circulating crea...	ORPHA:230
Beta-Thalassemia	Abnormality of temperature regulation, Abnormality of iron homeostasis, Anemia, Thrombocytopenia,...	ORPHA:848
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Splenomegaly, Hyperuricemia	ORPHA:79083
Generalized Pseudohypoaldosteronism Type 1	Hyperkalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating renin ...	ORPHA:171876
Non-24-Hour Sleep-Wake Syndrome	Blindness	ORPHA:73267
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Blindness	OMIM:204850
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Hyperuricemia	OMIM:162000
Shwachman-Diamond Syndrome	Aplastic anemia, Normocytic anemia, Steatorrhea, Anemia, Acute myeloid leukemia, Macrocytic anemi...	ORPHA:811
Cataract 21, Multiple Types	Retinal detachment, High myopia, Macular hypoplasia	OMIM:610202
Juvenile Paget Disease	Hyperuricemia	ORPHA:2801
Pontocerebellar Hypoplasia, Type 1E	Optic atrophy	OMIM:619303
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome	Optic atrophy	ORPHA:1171
Non-Specific Early-Onset Epileptic Encephalopathy	Optic atrophy, Retinal degeneration	ORPHA:442835
Carnitine-Acylcarnitine Translocase Deficiency	Hypothermia, Decreased circulating carnitine concentration, Elevated creatine kinase after exerci...	ORPHA:159
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic atrophy, Bone spicule pigmentation of the retina, Peripheral visual field loss, Visual impa...	OMIM:268315
Microphthalmia/Coloboma 12	Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal coloboma, Optic disc ...	OMIM:120200
Developmental And Epileptic Encephalopathy 28	Optic atrophy, Retinal degeneration	OMIM:616211
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia	Optic atrophy, Peripheral axonal neuropathy	OMIM:620221
Hsd10 Disease, Infantile Type	Optic atrophy, Visual loss, Retinal degeneration, Rod-cone dystrophy, Blindness	ORPHA:391428
Schindler Disease, Type I	Optic atrophy, Cerebral visual impairment	OMIM:609241
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Constriction of peripheral visual field, Patchy atrophy of the retinal pigment epithelium, Progre...	ORPHA:436245
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyperkalemia, Hyponatremia, Increased circulating renin level, Hyperaldosteronism	OMIM:620125
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypothermia, Hyperbilirubinemia, Vomiting, Failure to thrive, Thrombocytopenia, Splenomegaly, Ele...	OMIM:251880
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Hyperlipidemia, Hyperuricemia	ORPHA:35909
Bone Marrow Failure Syndrome 3	Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,...	OMIM:617052
Cofs Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Visual impairment	ORPHA:1466
Dominant Beta-Thalassemia	Abnormality of iron homeostasis, Hypochromic microcytic anemia, Diarrhea, Decreased mean corpuscu...	ORPHA:231226
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy	Optic atrophy, Peripheral axonal neuropathy	OMIM:617207
Usher Syndrome	Abnormality of retinal pigmentation, Visual field defect, Visual impairment, Myopia, High hyperme...	ORPHA:886
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Retinal degeneration	OMIM:615630
Pyruvate Dehydrogenase E2 Deficiency	Retinal degeneration	ORPHA:79244
Glycosylphosphatidylinositol Biosynthesis Defect 15	Optic atrophy, Myopia, Visual impairment	OMIM:617810
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Optic atrophy	OMIM:619052
Combined Oxidative Phosphorylation Deficiency 59	Retinal degeneration	OMIM:620646
Nephronophthisis 11	Retinal degeneration	OMIM:613550
Oculocutaneous Albinism Type 4	Optic nerve misrouting, Photophobia, Abnormality of retinal pigmentation, Hypoplasia of the fovea...	ORPHA:79435
Spinocerebellar Ataxia Type 7	Abnormal fundus morphology, Visual loss, Photophobia, Macular degeneration, Hemeralopia, Cone/con...	ORPHA:94147
Night Blindness, Congenital Stationary, Type 1A	Congenital stationary night blindness, High myopia, Hemeralopia	OMIM:310500
Mesangial sclerosis, diffuse renal, with ocular abnormalities	Optic atrophy, Retinal arteriolar constriction	OMIM:249660
Purine Nucleoside Phosphorylase Deficiency	Abnormal T cell morphology, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T c...	ORPHA:760
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Macular degeneration	ORPHA:284289
Osteopetrosis, Autosomal Recessive 8	Optic atrophy, Facial palsy, Visual loss	OMIM:615085
Beta-Thalassemia Major	Anisopoikilocytosis, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Diarrhea, De...	ORPHA:231214
Isolated Thyroid-Stimulating Hormone Deficiency	Hypothermia, Abnormal circulating thyroglobulin concentration, Constipation, Failure to thrive, N...	ORPHA:90674
Genetic Transient Congenital Hypothyroidism	Increased circulating thyroglobulin concentration, Hypothermia, Lethargy, Constipation	ORPHA:226316
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Retinal degeneration	OMIM:615249
Xanthinuria, Type Ii	Hypouricemia, Hyperxanthinemia, Increased circulating hypoxanthine concentration	OMIM:603592
Lethal Ataxia With Deafness And Optic Atrophy	Optic atrophy, Visual impairment, Decreased motor nerve conduction velocity, Abnormality of somat...	ORPHA:1187
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects	Optic atrophy, Exudative vitreoretinopathy, Hypermetropia	OMIM:615075
Albers-Schönberg Osteopetrosis	Optic atrophy, Facial palsy, Blindness, Visual impairment	ORPHA:53
Congenital Muscular Dystrophy, Fukuyama Type	Optic atrophy, Myopia, Retinal dysplasia, Visual impairment	ORPHA:272
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Hyperactivity, Patent foramen ovale, Attention deficit hyperactivity disorder	OMIM:617182
Craniodiaphyseal Dysplasia	Optic atrophy	ORPHA:1513
Hypothyroidism Due To Tsh Receptor Mutations	Hypothermia, Increased circulating thyroglobulin concentration, Constipation, Neonatal hyperbilir...	ORPHA:90673
Immunoneurologic Disorder, X-Linked	Nyctalopia	OMIM:300076
Multiple Mitochondrial Dysfunctions Syndrome 6	Optic atrophy, Visual loss	OMIM:617954
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Xanthelasma, Anemia, Hyperuricemia, Diarrhea, Chronic neutropenia, Hyperlip...	ORPHA:79259
Cataract 48	Amblyopia, Reduced visual acuity	OMIM:618415
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Abnormality of temperature regulation, Hypothermia, Inability to walk, Constipation, Fever, Obesi...	OMIM:618493
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation, Visual impairment, Nyctalopia	ORPHA:96
Methanol Poisoning	Visual impairment, Blindness, Abnormal optic nerve morphology, Blurred vision	ORPHA:31825
Leukodystrophy, Hypomyelinating, 19, Transient Infantile	Optic atrophy, Myopia	OMIM:618688
Fructose-1,6-Bisphosphatase Deficiency	Hyperuricemia, Diarrhea, Hyperalaninemia, Vomiting, Neonatal hyperbilirubinemia	ORPHA:348
Coats Disease	Retinal telangiectasia, Exudative retinal detachment	OMIM:300216
Spinocerebellar Ataxia, Autosomal Recessive 28	Optic atrophy, Myopia	OMIM:618800
Pseudoxanthoma Elasticum	Retinal peau d'orange, Choroidal neovascularization, Angioid streaks of the fundus, Optic disc dr...	OMIM:264800
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Optic atrophy, Sensory axonal neuropathy, Nyctalopia	ORPHA:99947
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Anemia, Hyperuricemia	OMIM:174000
Paget Disease Of Bone 5, Juvenile-Onset	Failure to thrive, Hyperphosphatemia, Hydroxyprolinemia, Hyperuricemia	OMIM:239000
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Visual loss, Abnormal peripheral nerve morphology by ana...	ORPHA:88628
Riboflavin Transporter Deficiency	Color vision defect, Abnormal cranial nerve morphology, Abnormality of macular pigmentation, Faci...	ORPHA:97229
Sturge-Weber Syndrome	Optic atrophy, Retinal detachment, Abnormality of vision, Blindness, Hemianopia, Abnormal retinal...	ORPHA:3205
Renal Hypoplasia, Bilateral	Hyperkalemia, Anemia, Hyponatremia, Failure to thrive, Lethargy, Small for gestational age	ORPHA:97362
Corneal Dystrophy, Meesmann, 1	Reduced visual acuity, Photophobia	OMIM:122100
Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Blindness, Bull's eye maculopathy, Peripheral visual field loss, Retinal degenerat...	ORPHA:157850
Axial Spondylometaphyseal Dysplasia	Optic atrophy, Retinal dystrophy, Dyschromatopsia, Photophobia, Peripheral retinal degeneration, ...	ORPHA:168549
Diamond-Blackfan Anemia	Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt...	ORPHA:124
Pseudoxanthoma Elasticum, Forme Fruste	Premature occlusive vascular stenosis, Angioid streaks of the fundus, Arteriosclerosis, Macular d...	OMIM:177850
Primary Angiitis Of The Central Nervous System	Pseudopapilledema, Amaurosis fugax, Abnormal visual field test, Reduced visual acuity, Blurred vi...	ORPHA:140989
Spastic Paraplegia 75, Autosomal Recessive	Optic atrophy, Reduced visual acuity, Hypermetropia	OMIM:616680
X-Linked Intellectual Disability, Najm Type	Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma, Myopia, Visual impairment	ORPHA:163937
Cyanosis, Transient Neonatal	Anemia, Methemoglobinemia, Reticulocytosis	OMIM:613977
Senior-Loken Syndrome 8	Retinal dystrophy, Reduced visual acuity, Rod-cone dystrophy, Macular atrophy, Visual impairment	OMIM:616307
Persistent Hyperplastic Primary Vitreous	Blindness, Remnants of the hyaloid vascular system, Retinal fold, Tractional retinal detachment, ...	ORPHA:91495
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyperkalemia, Hyponatremia, Decreased circulating cortisol level, Failure to thrive	OMIM:614736
Arts Syndrome	Optic atrophy, Visual loss	OMIM:301835
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Mirage Syndrome	Hyperkalemia, Anemia, Gastroesophageal reflux, Chronic diarrhea, Decreased body weight, Hyponatre...	OMIM:617053
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypothermia, Hyperhomocystinemia, Stomatitis, Megaloblastic anemia, Eleva...	ORPHA:79282
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Blindness	OMIM:614514
Menkes Disease	Hypothermia, Decreased circulating ceruloplasmin concentration	OMIM:309400
Autosomal Recessive Progressive External Ophthalmoplegia	Optic atrophy, Dyschromatopsia, Optic neuritis, Sensory axonal neuropathy, Facial palsy, Abnormal...	ORPHA:254886
Corneal Dystrophy And Perceptive Deafness	Reduced visual acuity	OMIM:217400
Microcephaly, Amish Type	Optic atrophy, Cerebral visual impairment, Hypoplasia of the fovea	OMIM:607196
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome	Optic atrophy, Visual impairment	ORPHA:1154
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Visual loss, Retinal dystrophy	ORPHA:49827
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity	OMIM:617113
Diamond-Blackfan Anemia 7	Increased mean corpuscular volume, Esophagitis, Macrocytic anemia, Neutropenia	OMIM:612562
Werner Syndrome	Premature arteriosclerosis, Retinal degeneration	OMIM:277700
Osteopetrosis, Autosomal Recessive 4	Optic atrophy, Facial palsy, Optic disc pallor, Visual impairment	OMIM:611490
Cohen Syndrome	Optic atrophy, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Nyctalopia, Reduc...	OMIM:216550
Cednik Syndrome	Optic atrophy, Abnormality of vision, Abnormality of peripheral nerve conduction	ORPHA:66631
Intermediate Uveitis	Cystoid macular edema, Optic neuritis, Vitreous floaters, Vitreous snowballs, Vitreous haze, Epir...	ORPHA:279914
Beta-Thalassemia Intermedia	Abnormality of iron homeostasis, Anemia of inadequate production, Leukocytosis, Persistence of he...	ORPHA:231222
Uveal Melanoma	Visual loss, Abnormal fundus morphology, Retinal detachment, Photopsia, Vitreous hemorrhage, Meta...	ORPHA:39044
Alpers-Huttenlocher Syndrome	Abnormality of vision, Blindness	ORPHA:726
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic atrophy, Retinal detachment, Optic nerve hypoplasia, Myopia, Blindness	ORPHA:370959
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Thrombocytopenia, Splenomegaly	OMIM:620367
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Constipation, Large for gestational age, Hypothermia	ORPHA:226313
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Optic atrophy, Color vision defect, Central scotoma, Slow decrease in visual acuity, Decreased mo...	OMIM:601152
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Ataxia, Hyperuricemia	ORPHA:411543
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Increased mean corpuscular volume, Leukopenia, Thrombocytopenia, Ataxia,...	OMIM:127550
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Optic atrophy, Myopia	OMIM:248000
Hyperuricemia, Hprt-Related	Hyperuricemia	OMIM:300323
Antiphospholipid Syndrome, Familial	Visual loss, Retinal detachment, Retinal vasculitis, Central retinal artery occlusion, Vitritis, ...	OMIM:107320
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Mohr-Tranebjaerg Syndrome	Constriction of peripheral visual field, Photophobia, Cerebral visual impairment, Reduced visual ...	OMIM:304700
Leukodystrophy, Hypomyelinating, 22	Optic disc pallor, Hypermetropia	OMIM:619328
Timothy Syndrome	Hypocalcemia, Hypothermia	OMIM:601005
Marburg Hemorrhagic Fever	Hypothermia, Hypokalemia, Diarrhea, Neutrophilia in presence of infection, Abnormal lymphocyte mo...	ORPHA:99826
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hyperkalemia, Inability to walk, Ataxia, Splenomegaly, Conjugated hyperbilirubinemia, Stomatocyto...	OMIM:608885
Late Infantile Neuronal Ceroid Lipofuscinosis	Visual loss, Reduced visual acuity, Myopia, Retinal degeneration, Blindness	ORPHA:168491
Oculocutaneous Albinism Type 1	Optic nerve misrouting, Photophobia, Abnormal morphology of the choroidal vasculature, Depigmente...	ORPHA:352731
Isolated Succinate-Coq Reductase Deficiency	Blindness, Reduced visual acuity, Pigmentary retinopathy	ORPHA:3208
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Blindness, Retinal dystrophy	ORPHA:713
Glycogen Storage Disease Ib	Xanthelasma, Hyperuricemia, Hyperlipidemia, Inflammation of the large intestine, Splenomegaly, Ne...	OMIM:232220
Myoclonus, Intractable, Neonatal	Cerebral visual impairment, Optic disc pallor	OMIM:617235
Optic Atrophy-Intellectual Disability Syndrome	Optic atrophy, Optic disc hypoplasia, Hypermetropia, Optic nerve hypoplasia, Cerebral visual impa...	ORPHA:401777
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Optic atrophy, Cerebral visual impairment	OMIM:618737
Microphthalmia, Isolated 8	Retinal detachment, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal coloboma	OMIM:615113
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Blindness, Pigmentary retinopathy	OMIM:560000
Alpha-Thalassemia Myelodysplasia Syndrome	HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:300448
Alstrom Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia, Obesity, Elevated h...	OMIM:203800
Corticosteroid-Binding Globulin Deficiency	Reduced circulating cortisol-binding globulin concentration, Decreased circulating cortisol level...	OMIM:611489
Genetic Recurrent Myoglobinuria	Hyperkalemia, Difficulty walking, Hypocalcemia, Fever, Hyperphosphatemia, Highly elevated creatin...	ORPHA:99845
Leukodystrophy, Hypomyelinating, 15	Optic atrophy, Visual loss, Hypermetropia, Progressive visual loss, Amblyopia	OMIM:617951
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Optic atrophy, Hypermetropia, Retinal detachment, Chorioretinal lacunae, Reduced visual acuity, M...	OMIM:152950
Wildervanck Syndrome	Pseudopapilledema	OMIM:314600
Refsum Disease	Abnormality of vision, Retinopathy, Abnormality of retinal pigmentation, Progressive visual loss,...	ORPHA:773
X-Linked Immunoneurologic Disorder	Nyctalopia	ORPHA:2571
Fructose Intolerance, Hereditary	Bicarbonaturia, Gastrointestinal hemorrhage, Hyperuricemia, Hyperbilirubinemia, Vomiting, Nausea,...	OMIM:229600
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Osteopetrosis, Autosomal Recessive 2	Optic atrophy, Facial paralysis, Blindness, Cranial nerve compression	OMIM:259710
Cardiomyopathy, Familial Hypertrophic, 27	Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:618052
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Atrial septal defect, Perimembranous ventricular septal defect, Hypertrophic cardio...	OMIM:620135
Isolated Atp Synthase Deficiency	Optic atrophy, Rod-cone dystrophy, Blindness	ORPHA:254913
Null Syndrome	Optic atrophy, Decreased nerve conduction velocity, Abnormality of peripheral nerve conduction, P...	ORPHA:280234
Hypoadrenocorticism, Familial	Hyperkalemia, Hyponatremia, Vomiting	OMIM:240200
Zika Virus Disease	Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic disc morphology, Absent foveal refle...	ORPHA:448237
Neonatal Adrenoleukodystrophy	Optic atrophy, Abnormality of retinal pigmentation, Visual impairment	ORPHA:44
Cystinuria	Hyperuricemia	ORPHA:214
Immunodeficiency 96	Increased mean corpuscular volume, Increased proportion of gamma-delta T cells	OMIM:619774
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Optic atrophy, Blindness	ORPHA:95433
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Multiple Sulfatase Deficiency	Retinal degeneration	OMIM:272200
Stickler Syndrome, Type I	Retinal detachment, Membranous vitreous appearance, Vitreoretinopathy, Myopia, Retinal hole, Blin...	OMIM:108300
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Hypothermia, Gastroesophageal reflux	ORPHA:168593
Glycogen Storage Disease Ia	Xanthelasma, Hyperlipidemia, Intermittent diarrhea, Hyperuricemia	OMIM:232200
Bardet-Biedl Syndrome 20	Constriction of peripheral visual field, Hypermetropia, Hemeralopia, Papilledema, Rod-cone dystro...	OMIM:619471
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Elliptocytosis 3	Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume	OMIM:617948
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Hypothermia	OMIM:616501
Sclerosteosis	Optic atrophy, Facial palsy	ORPHA:3152
Microphthalmia/Coloboma 9	Retinal detachment, Macular coloboma, Reduced visual acuity, Visual impairment	OMIM:615145
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Hyperactivity, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Aggressiv...	OMIM:252920
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Retinal degeneration, Rod-cone dystrophy, Hypoautofluorescent retinal lesion	OMIM:250410
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Hyperuricemia	ORPHA:411536
Lowry-Wood Syndrome	Peripheral visual field loss, Pigmentary retinopathy, Nyctalopia	OMIM:226960
Joubert Syndrome 35	Rod-cone dystrophy, Progressive visual loss, Nyctalopia	OMIM:618161
Lysosomal Acid Lipase Deficiency	Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Anemia, Diarrhea, Vacuolated lympho...	ORPHA:275761
Birk-Landau-Perez Syndrome	Hyperkalemia, Limb ataxia, Difficulty walking, Failure to thrive in infancy, Increased circulatin...	OMIM:617595
Progressive Myoclonic Epilepsy Type 3	Optic atrophy, Abnormality of vision	ORPHA:263516
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Retinal degeneration, Rod-cone dystrophy	ORPHA:166035
Brown-Vialetto-Van Laere Syndrome 2	Optic atrophy, Facial palsy, Visual loss	OMIM:614707
Cach Syndrome	Optic atrophy, Optic neuritis, Blindness	ORPHA:135
Spastic Ataxia 4, Autosomal Recessive	Optic atrophy	OMIM:613672
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia, Dysphagia	ORPHA:261250
Infantile Neuronal Ceroid Lipofuscinosis	Visual loss, Blindness, Progressive visual field defects	ORPHA:79263
Triple A Syndrome	Optic atrophy, Motor axonal neuropathy, Visual impairment	ORPHA:869
Maternal Uniparental Disomy Of Chromosome 2	Retinal degeneration	ORPHA:96179
Intellectual Developmental Disorder, Autosomal Dominant 67	Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics	OMIM:619927
Aceruloplasminemia	Macular degeneration, Retinal degeneration, Abnormality of retinal pigmentation	ORPHA:48818
Hyperostosis Cranialis Interna	Optic atrophy, Facial palsy, Reduced visual acuity	OMIM:144755
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Hypothermia, Hyperalaninemia, Failure to thrive	OMIM:618329
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anemia, Hypokalemia, Hypocalcemia, Diarrhea, Cachexia, Vomiting, Hypomagnesemia, Hematochezia, Xe...	OMIM:175500
Mitochondrial Complex I Deficiency, Nuclear Type 19	Optic atrophy, Cerebral visual impairment	OMIM:618241
Mucolipidosis Iii Alpha/Beta	Retinopathy, Retinal degeneration	OMIM:252600
Infantile Neuroaxonal Dystrophy	Optic atrophy, Peripheral axonal neuropathy, Abnormal autonomic nervous system physiology, Diffus...	ORPHA:35069
Developmental And Epileptic Encephalopathy 47	Attenuation of retinal blood vessels, Cerebral visual impairment, Optic disc pallor	OMIM:617166
Glycogen Storage Disease Ic	Xanthelasma, Hyperuricemia, Stomatitis, Hyperlipidemia, Inflammation of the large intestine, Cycl...	OMIM:232240
Tay-Sachs Disease	Cherry red spot of the macula, Blindness	OMIM:272800
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Hypothermia	OMIM:614498
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Optic atrophy, Pigmentary retinopathy, Visual impairment	OMIM:252011
Aica-Ribosiduria Due To Atic Deficiency	Optic atrophy, Congenital blindness	OMIM:608688
Ectopia Lentis Et Pupillae	Retinal detachment, High myopia	OMIM:225200
Mitochondrial Complex I Deficiency, Nuclear Type 7	Optic atrophy	OMIM:618229
Pontocerebellar Hypoplasia Type 1	Optic atrophy, Peripheral axonal neuropathy, Degeneration of anterior horn cells, Progressive vis...	ORPHA:2254
Cinca Syndrome	Visual impairment, Retrobulbar optic neuritis, Blindness, Pseudopapilledema	ORPHA:1451
Familial Glucocorticoid Deficiency	Hyperkalemia, Diarrhea, Vomiting, Hyponatremia, Constipation, Decreased circulating cortisol leve...	ORPHA:361
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Spinocerebellar Ataxia With Epilepsy	Optic atrophy, Hemianopia, Sensory axonal neuropathy	ORPHA:254881
Osteopetrosis, Autosomal Recessive 1	Optic atrophy, Facial palsy, Facial paralysis, Visual impairment, Blindness	OMIM:259700
Prune1-Related Neurological Syndrome	Retinopathy, Optic atrophy, Cerebral visual impairment	ORPHA:544469
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia	OMIM:618528
Mitochondrial Complex I Deficiency, Nuclear Type 27	Optic atrophy	OMIM:618248
Phosphoribosylpyrophosphate Synthetase Superactivity	Ataxia, Small for gestational age, Hyperuricemia	OMIM:300661
Mitochondrial Dna-Associated Leigh Syndrome	Hypothermia, Episodic vomiting, Hyperalaninemia, Gait ataxia, Fever, Failure to thrive, Ataxia, D...	ORPHA:255210
Linear Skin Defects With Multiple Congenital Anomalies 2	Myopia, Optic disc pallor, Visual impairment	OMIM:300887
Spastic Paraplegia 2, X-Linked	Optic atrophy	OMIM:312920
Severe X-Linked Intellectual Disability, Gustavson Type	Optic atrophy, Blindness	ORPHA:3078
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Optic atrophy	ORPHA:352682
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Optic atrophy, Visual impairment, Blindness, Central scotoma	ORPHA:543470
Orthostatic Hypotension 1	Increased blood urea nitrogen, Intermittent hypothermia, Hypomagnesemia, Elevated circulating dih...	OMIM:223360
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Optic atrophy, Decreased nerve conduction velocity, Sensory axonal neuropathy, Abnormal periphera...	ORPHA:457205
Mohr-Tranebjaerg Syndrome	Optic atrophy, Color vision defect, Visual loss, Photophobia, Central scotoma, Cerebral visual im...	ORPHA:52368
Infantile Cerebellar-Retinal Degeneration	Optic atrophy, Retinal dystrophy	OMIM:614559
Full Nf2-Related Schwannomatosis	Retinal hamartoma, Visual loss, Peripheral schwannoma, Facial palsy, Remnants of the hyaloid vasc...	ORPHA:637
Hyperuricemic Nephropathy, Familial Juvenile, 3	Hyperuricemia	OMIM:614227
Fuchs Endothelial Corneal Dystrophy	Visual loss, Reduced visual acuity, Nyctalopia	ORPHA:98974
Megalocornea	Retinal detachment, Reduced visual acuity	OMIM:309300
Diamond-Blackfan Anemia 1	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:105650
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Visual impairment	ORPHA:2518
Childhood-Onset Spasticity With Hyperglycinemia	Optic atrophy, Visual impairment	ORPHA:401866
Diencephalic Syndrome	Optic atrophy	ORPHA:1672
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Optic atrophy, Myopia, Visual impairment	ORPHA:529665
Medullary cystic kidney disease 2	Hyperuricemia	OMIM:603860
Developmental And Epileptic Encephalopathy 61	Optic atrophy	OMIM:617933
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Chronic hemolytic anemia, Diarrhea, Leukocytosis, Reticulocytosis, Poikilocytosis, Unconjugated h...	OMIM:618278
Muscle-Eye-Brain Disease	Optic atrophy, Myopia, Visual impairment	ORPHA:588
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Aganglionic megacolon, Retinal dystrophy, Hyperautofluor...	OMIM:209900
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyperkalemia, Fever, Hyponatremia, Vomiting, Decreased circulating cortisol level, Failure to thrive	ORPHA:90790
Ethylene Glycol Poisoning	Hyperkalemia, Hypothermia, Gastritis, Hypocalcemia, Vomiting, Nausea, Ataxia	ORPHA:31826
Leukodystrophy, Hypomyelinating, 6	Optic atrophy, Visual impairment	OMIM:612438
Pseudohypoaldosteronism, Type Iia	Hyperkalemia	OMIM:145260
Aromatic L-Amino Acid Decarboxylase Deficiency	Intermittent hypothermia, Gastroesophageal reflux, Diarrhea, Athetosis, Temperature instability, ...	OMIM:608643
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Retinal thinning, Progressive visual loss, Abnormality of macular pigmentation, Retinal atrophy, ...	OMIM:608940
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To	Nonarteritic anterior ischemic optic neuropathy	OMIM:258660
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Retinal thinning, Retinal atrophy, Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, ...	ORPHA:85167
Cranioectodermal Dysplasia 4	Nyctalopia, Rod-cone dystrophy, Visual impairment, Hypermetropia	OMIM:614378
Deafness, Autosomal Dominant 58	Reduced visual acuity	OMIM:615654
Mitochondrial Complex I Deficiency, Nuclear Type 4	Blindness	OMIM:618225
Albinism, Oculocutaneous, Type Vii	High hypermetropia, Reduced visual acuity, Photophobia	OMIM:615179
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Hypertrophic cardiomyopathy	OMIM:614096
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Nyctalopia	OMIM:277350
Hereditary Methemoglobinemia	Athetosis, Small for gestational age, Methemoglobinemia	ORPHA:621
Pontocerebellar Hypoplasia, Type 9	Optic atrophy, Peripheral axonal neuropathy, Cerebral visual impairment	OMIM:615809
Spinocerebellar Ataxia, Autosomal Recessive 8	Optic atrophy, Peripheral axonal neuropathy, Abnormal autonomic nervous system physiology	OMIM:610743
Microphthalmia-Brain Atrophy Syndrome	Blindness	ORPHA:77299
Deafness, Dystonia, And Cerebral Hypomyelination	Optic atrophy	OMIM:300475
Mitochondrial Complex I Deficiency, Nuclear Type 14	Optic atrophy	OMIM:618236
Pseudohypoaldosteronism Type 2	Hyperkalemia	ORPHA:757
Joubert Syndrome With Oculorenal Defect	Aganglionic megacolon, Retinal dystrophy, Blindness, Chorioretinal coloboma, Visual impairment	ORPHA:2318
Optic Atrophy 11	Optic atrophy, Decreased sensory nerve conduction velocity, Hypermetropia, Optic nerve hypoplasia...	OMIM:617302
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Optic atrophy	ORPHA:254343
Leukodystrophy, Hypomyelinating, 12	Optic atrophy, Cerebral visual impairment, Reduced visual acuity, Abnormal autonomic nervous syst...	OMIM:616683
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Frequent temper tantrums, Impulsivity, Pulmonic stenosis, Motor stereotypy, Attent...	OMIM:620141
Srd5A3-Cdg	Optic atrophy, Visual loss, Rod-cone dystrophy, Optic disc hypoplasia	ORPHA:324737
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Blindness	OMIM:617914
Fanconi-Bickel Syndrome	Increased serum bile acid concentration, Hypokalemia, Hypouricemia, Hyperbilirubinemia, Hypergala...	OMIM:227810
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly	OMIM:300886
Castleman Disease	Intestinal obstruction, Anemia, Elevated circulating C-reactive protein concentration, Thrombocyt...	ORPHA:160
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Abnormal magnesium concentration, Hypokalemia, Increased serum prostaglandin E2, Increased circul...	OMIM:241150
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy	ORPHA:85447
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion	Hypouricemia	OMIM:307830
Congenital Microcoria	Photophobia, Hemeralopia, Axial myopia, Blurred vision, Visual impairment, Blindness, Nyctalopia	ORPHA:566
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Abnormal auditory evoked potentials, Amblyopia, Optic disc pallor	OMIM:617523
X-Linked Charcot-Marie-Tooth Disease Type 5	Optic atrophy, Abnormal nerve conduction velocity	ORPHA:99014
Hypouricemia, Renal, 2	Hypouricemia	OMIM:612076
Usher Syndrome Type 2	Visual loss, Scotoma, Hemianopia, Myopia, Nyctalopia	ORPHA:231178
Cerebral Visual Impairment	Optic atrophy, Optic nerve hypoplasia, Increased cup-to-disc ratio, Visual field defect, Retinopa...	ORPHA:447788
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Spastic Paraplegia 85, Autosomal Recessive	Optic atrophy, Peripheral axonal neuropathy	OMIM:619686
Pseudohypoaldosteronism, Type Iic	Hyperkalemia, Decreased circulating renin level, Hyperchloremia	OMIM:614492
Friedreich Ataxia	Optic atrophy, Decreased sensory nerve conduction velocity, Decreased amplitude of sensory action...	OMIM:229300
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Combined Oxidative Phosphorylation Deficiency 7	Optic atrophy, Facial diplegia, Facial paralysis, Visual impairment	OMIM:613559
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Inappropriate behavior, Nail-biting, Hyperactivity, Attention deficit hyperactivity disorder, Sel...	OMIM:619827
Autosomal Dominant Optic Atrophy, Classic Form	Optic atrophy, Color vision defect, Central scotoma, Temporal optic disc pallor, Visual impairmen...	ORPHA:98673
Hypomagnesemia 3, Renal	Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentration, Hyperuric...	OMIM:248250
Juvenile Polyposis Syndrome	Anemia, Hypokalemia, Diarrhea, Failure to thrive, Hematochezia, Hypoalbuminemia	OMIM:174900
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Large for gestational age, Hypophosphatemia	OMIM:616026
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Optic atrophy, High myopia, Blindness	OMIM:220500
Developmental And Epileptic Encephalopathy 48	Rod-cone dystrophy, Optic disc pallor	OMIM:617276
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia	OMIM:242050
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Visual impairment, Progressive visual loss, Optic disc pallor	ORPHA:1947
Momo Syndrome	Blindness, Retinal coloboma	OMIM:157980
Congenital Hydrocephalus	Optic atrophy, Macular hypoplasia	ORPHA:2185
Leukodystrophy, Hypomyelinating, 2	Optic atrophy, Sensory axonal neuropathy, Facial palsy, Myopia, Decreased motor nerve conduction ...	OMIM:608804
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Retinal atrophy	ORPHA:412057
Adult-Onset Autosomal Dominant Leukodystrophy	Spastic gait, Hypothermia, Dysdiadochokinesis, Temperature instability, Gait disturbance, Gait at...	ORPHA:99027
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatosplenomegaly, Splenomegaly,...	ORPHA:846
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Developmental And Epileptic Encephalopathy 75	Optic atrophy, Cerebral visual impairment, Optic disc pallor	OMIM:618437
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Optic atrophy, Visual loss, Retinal dysplasia, Retinal dystrophy, Retinal detachment, Abnormality...	ORPHA:2526
Xq21 Microdeletion Syndrome	Abnormal chorioretinal morphology, Optic atrophy, Chorioretinal degeneration, Progressive night b...	ORPHA:1435
Hypothyroidism, Congenital, Nongoitrous, 2	Hypothermia, Increased circulating thyroglobulin concentration, Hyperbilirubinemia, Constipation,...	OMIM:218700
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic atrophy, Pigmentary retinopathy, Reduced visual acuity, Visual impairment, Optic disc pallor	OMIM:617282
Familial Atrial Myxoma	Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma	ORPHA:615
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Myopia, High myopia, Rod-cone dystrophy, Nyctalopia	OMIM:617763
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior	ORPHA:101039
Alexander Disease	Hypothermia, Bowel incontinence, Gait disturbance, Constipation, Failure to thrive, Ataxia, Dysph...	ORPHA:58
Papillorenal Syndrome	Retinal detachment, Macular degeneration, Chorioretinal atrophy, High myopia, Retinal coloboma, R...	OMIM:120330
Cataract 17, Multiple Types	Amblyopia, Reduced visual acuity	OMIM:611544
Knobloch Syndrome	Abnormal vitreous humor morphology, Visual loss, Retinal detachment, Macular degeneration, Vitreo...	ORPHA:1571
X-Linked Charcot-Marie-Tooth Disease Type 2	Decreased motor nerve conduction velocity, Slow decrease in visual acuity, Optic disc pallor, Opt...	ORPHA:101076
Herpes Simplex Virus Stromal Keratitis	Reduced visual acuity, Blindness, Blurred vision	ORPHA:137599
Joubert Syndrome 30	Reduced visual acuity, Retinal dystrophy	OMIM:617622
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Hypothermia, Gastroesophageal reflux	OMIM:608800
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon...	ORPHA:860
Beta-Propeller Protein-Associated Neurodegeneration	Optic atrophy, Abnormal autonomic nervous system physiology	ORPHA:329284
Spastic Paraplegia 79B, Autosomal Recessive	Optic atrophy, Visual loss, Reduced visual acuity, Opto-chiasmatic atrophy, Myopia, Progressive v...	OMIM:615491
Autosomal Recessive Spastic Paraplegia Type 75	Hypermetropia, Temporal optic disc pallor	ORPHA:459056
Developmental And Epileptic Encephalopathy 93	Optic atrophy, Hypermetropia	OMIM:618012
Infantile Krabbe Disease	Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc...	ORPHA:206436
Congenital Primary Aphakia	Retinal detachment, Abnormality of vision, Optic disc coloboma, Retinal dysplasia	ORPHA:83461
Keratoconus 9	Reduced visual acuity	OMIM:617928
Juvenile Nephropathic Cystinosis	Hypokalemia, Hypocalcemia, Hypouricemia, Vomiting, Hyponatremia, Failure to thrive, Hypophosphate...	ORPHA:411634
Lamb-Shaffer Syndrome	Optic atrophy, Cerebral visual impairment, Amblyopia	ORPHA:530983
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyperkalemia, Increased circulating renin level, Hyponatremia, Vomiting, Decreased circulating co...	ORPHA:90791
Malignant Hyperthermia Of Anesthesia	Hyperkalemia, Fever, Elevated creatine kinase after exercise, Hyperphosphatemia, Malignant hypert...	ORPHA:423
Nephronophthisis 2	Hyperkalemia, Elevated circulating creatinine concentration	OMIM:602088
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Hematemesis, Elevated circulating creatinine concentration, Anemia, Melena, Diarrhe...	ORPHA:340
Cockayne Syndrome	Difficulty walking, Inability to walk, Gastroesophageal reflux, Hyperuricemia, Cachexia, Gait dis...	ORPHA:191
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Hypothermia, Gastroesophageal reflux, Vomiting, Failure to thrive, Unstea...	ORPHA:17
Mitochondrial Complex I Deficiency, Nuclear Type 8	Optic disc pallor	OMIM:618230
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic atrophy, Sensory axonal neuropathy, Motor axonal neuropathy, Optic disc pallor	OMIM:609541
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Hypochromic microcytic anemia, Iro...	ORPHA:97214
Xfe Progeroid Syndrome	Optic atrophy, Attenuation of retinal blood vessels, Blindness, Visual impairment	OMIM:610965
Apparent Mineralocorticoid Excess	Failure to thrive, Decreased circulating renin level, Small for gestational age, Hypokalemia	OMIM:218030
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Optic atrophy, Scotoma, Peripheral axonal neuropathy, Progressive visual loss, Visual impairment	OMIM:616505
Hermansky-Pudlak Syndrome 4	Hypoplasia of the fovea, Reduced visual acuity, Ocular albinism	OMIM:614073
Exercise-Induced Malignant Hyperthermia	Hyperkalemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Vomiting, Nausea,...	ORPHA:466650
Pseudohypoaldosteronism, Type Iib	Hyperkalemia, Hyperchloremia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperkalemia, Hyperchloremia	OMIM:614495
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Optic atrophy, Cerebral visual impairment	ORPHA:79279
Diarrhea 1, Secretory Chloride, Congenital	Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia, Failure to thrive, S...	OMIM:214700
Cerebellar Ataxia-Hypogonadism Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1173
Mannosidosis, Alpha B, Lysosomal	Retinal degeneration	OMIM:248500
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Blindness	OMIM:618731
Xanthinuria, Type I	Hypouricemia, Hyperxanthinemia	OMIM:278300
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Blindness	OMIM:236270
Infection-Related Hemolytic Uremic Syndrome	Hyperkalemia, Hypocalcemia, Acute colitis, Diarrhea, Bloody diarrhea, Leukocytosis, Vomiting, Hyp...	ORPHA:544482
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome	Optic atrophy, Myopia, Fundus atrophy	ORPHA:1970
Hereditary Renal Hypouricemia	Hypouricemia, Nausea, Increased blood urea nitrogen, Vomiting	ORPHA:94088
Wildervanck Syndrome	Facial palsy, Pseudopapilledema	ORPHA:3456
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity	Cherry red spot of the macula, Optic disc pallor	OMIM:615281
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Optic atrophy, Cerebral visual impairment, Abnormal autonomic nervous system physiology	ORPHA:466934
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic atrophy, Peripheral axonal neuropathy, Decreased number of peripheral myelinated nerve fibe...	ORPHA:320406
Molybdenum Cofactor Deficiency, Complementation Group C	Hypertaurinemia, Hypocystinemia, Hypouricemia	OMIM:615501
Congenital Bile Acid Synthesis Defect Type 1	Nyctalopia	ORPHA:79301
Hermansky-Pudlak Syndrome 8	Hypermetropia, High myopia, Moderate hypermetropia, Reduced visual acuity, Hypoplasia of the fove...	OMIM:614077
Late-Infantile/Juvenile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ...	ORPHA:206443
Aica-Ribosiduria	Congenital blindness	ORPHA:250977
Leukodystrophy, Hypomyelinating, 13	Optic atrophy, Delayed brainstem auditory evoked response conduction time, Visual impairment	OMIM:616881
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies	Optic atrophy, Cerebral visual impairment, Unilateral facial palsy, Rod-cone dystrophy	OMIM:618547
Corneal Dystrophy, Posterior Polymorphous, 4	Reduced visual acuity	OMIM:618031
Thyrotoxic Periodic Paralysis	Hyperkalemia, Transient hypophosphatemia, Episodic hypokalemia, Constipation, Obesity, Hypomagnes...	ORPHA:79102
Peroxisome Biogenesis Disorder 4B	Optic atrophy, Decreased nerve conduction velocity, Retinal dystrophy, Rod-cone dystrophy, Visual...	OMIM:614863
Pineoblastoma	Retinoblastoma, Amaurosis fugax, Papilledema, Reduced visual acuity, Progressive visual field def...	ORPHA:251909
Maternal Uniparental Disomy Of Chromosome 4	Optic atrophy, Visual field defect, Rod-cone dystrophy, Pigmentary retinopathy, Nyctalopia	ORPHA:96180
Myopathy, Tubular Aggregate, 1	Nyctalopia	OMIM:160565
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly	OMIM:600649
Pseudohypoaldosteronism, Type Iie	Hyperkalemia, Hyperchloremia	OMIM:614496
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Retinal degeneration	OMIM:618479
Vitamin K Antagonist Embryofetopathy	Optic atrophy, Visual impairment	ORPHA:1914
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Optic atrophy, Visual impairment	ORPHA:93262
Cystinosis	Hypokalemia, Gait disturbance, Vomiting, Fever, Failure to thrive, Hypophosphatemia	ORPHA:213
Kniest Dysplasia	Retinal detachment, Vitreoretinopathy, Lattice retinal degeneration, Degenerative vitreoretinopat...	ORPHA:485
Autosomal Recessive Spastic Paraplegia Type 11	Retinal degeneration	ORPHA:2822
Severe Oculo-Renal-Cerebellar Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Visual ...	ORPHA:2715
Autosomal Recessive Spastic Paraplegia Type 55	Optic atrophy, Decreased sensory nerve conduction velocity, Optic neuropathy, Reduced visual acui...	ORPHA:320375
Peroxisomal Acyl-Coa Oxidase Deficiency	Optic atrophy, Myopia	ORPHA:2971
Sympathetic Ophthalmia	Photophobia, Retinal detachment, Vitreous floaters, Depigmented fundus, Retinal hemorrhage, Papil...	ORPHA:79098
Neuronal Intranuclear Inclusion Disease	Optic atrophy	ORPHA:2289
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic atrophy, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Retinal atrophy, My...	OMIM:236670
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Macular degeneration	ORPHA:247234
Autosomal Dominant Optic Atrophy And Cataract	Optic atrophy, Tritanomaly, Central scotoma, Red-green dyschromatopsia, Reduced visual acuity, Vi...	ORPHA:67036
Tbck-Related Intellectual Disability Syndrome	Abnormal circulating lipid concentration, Hypothermia, Inability to walk	ORPHA:488632
Hyperaldosteronism, Familial, Type Ii	Hypokalemia, Hyperaldosteronism	OMIM:605635
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Liddle Syndrome	Constipation, Hypokalemia	ORPHA:526
Combined Oxidative Phosphorylation Defect Type 7	Optic atrophy, Dyschromatopsia, Peripheral axonal neuropathy, Facial diplegia, Visual field defec...	ORPHA:254930
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Optic atrophy, Achromatopsia, Hypermetropia, Nonprogressive visual loss, Reduced visual acuity, M...	OMIM:614800
Hermansky-Pudlak Syndrome 1	Photophobia, Severely reduced visual acuity, Blindness, Ocular albinism	OMIM:203300
Pierson Syndrome	Retinal detachment, High myopia, Blindness, Remnants of the hyaloid vascular system, Retinal hemo...	OMIM:609049
Ophthalmomandibulomelic Dysplasia	Blindness	ORPHA:2741
Osteootohepatoenteric Syndrome	Anemia, Increased serum bile acid concentration, Hypokalemia, Episodic vomiting, Failure to thriv...	OMIM:619377
Alpha-N-Acetylgalactosaminidase Deficiency	Blindness	ORPHA:3137
Infantile Spasms-Broad Thumbs Syndrome	Optic disc pallor	ORPHA:3173
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Vomiting, Failure to thrive, Hypokalemia	OMIM:602722
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hypokalemia, Acute colitis, Diarrhea, Bloody diarrhea, Leukocytosis, Reticulocytosis, Unconjugate...	ORPHA:90038
Chromosome 19P13.13 Deletion Syndrome	Optic atrophy, Optic nerve hypoplasia	OMIM:613638
Coenzyme Q10 Deficiency, Primary, 2	Optic atrophy	OMIM:614651
Papilloma Of Choroid Plexus	Papilledema	OMIM:260500
Fixed Subaortic Stenosis	Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ...	ORPHA:3092
Hb Bart'S Hydrops Fetalis	Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Optic atrophy, Decreased nerve conduction velocity, Optic disc pallor, Visual impairment	ORPHA:485421
Hypouricemia, Renal, 1	Hypouricemia, Elevated circulating creatinine concentration	OMIM:220150
Neurooculocardiogenitourinary Syndrome	Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:618652
Infantile Sialic Acid Storage Disease	Cardiomegaly, Hepatomegaly, Splenomegaly	OMIM:269920
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Constriction of peripheral visual field, Photophobia, Reduced visual acuity, Optic disc pallor	OMIM:618527
Congenital Toxoplasmosis	Cardiomegaly, Hepatomegaly	ORPHA:858
Alpha-Thalassemia	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Le...	OMIM:300280
Ophthalmomandibulomelic Dysplasia	Blindness	OMIM:164900
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Optic atrophy, Optic nerve hypoplasia, Peripheral axonal neuropathy, Myopia	ORPHA:496790
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Optic atrophy, Cerebral visual impairment, Hypoplastic optic chiasm	OMIM:617669
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Optic atrophy, Decreased nerve conduction velocity, Rod-cone dystrophy	OMIM:612674
East Syndrome	Difficulty walking, Inability to walk, Hypokalemia, Increased circulating renin level, Hypomagnes...	ORPHA:199343
Isolated Complex I Deficiency	Blindness, Optic disc pallor, Optic neuropathy	ORPHA:2609
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Reduced visual acuity, Optic disc pallor	OMIM:614195
Multiple Sulfatase Deficiency	Optic atrophy, Abnormality of retinal pigmentation, Abnormality of peripheral nerve conduction, V...	ORPHA:585
Neurodevelopmental Disorder With Microcephaly, Hypotonia, Nystagmus, And Seizures	Optic atrophy, Cerebral visual impairment	OMIM:619876
Hermansky-Pudlak Syndrome 7	Reduced visual acuity, Visual impairment, Ocular albinism	OMIM:614076
Developmental And Speech Delay Due To Sox5 Deficiency	Optic atrophy, Myopia	ORPHA:313892
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Hepatomegaly	OMIM:619064
Wilson Disease	Anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Hyperbilirubinemia, Vomi...	OMIM:277900
Familial Osteodysplasia, Anderson Type	Hyperuricemia	ORPHA:2769
Posterior Polymorphous Corneal Dystrophy	Photophobia, Chorioretinal degeneration, Very low visual acuity, Reduced visual acuity, Amblyopia...	ORPHA:98973
White-Sutton Syndrome	Optic atrophy, Hypermetropia, Visual impairment, Myopia, Rod-cone dystrophy, Blindness	ORPHA:468678
Hurler Syndrome	Retinal degeneration	OMIM:607014
Mepan Syndrome	Optic atrophy, Reduced visual acuity	ORPHA:508093
Mitochondrial Complex I Deficiency, Nuclear Type 18	Optic disc pallor	OMIM:618240
Woods Syndrome	Optic atrophy	OMIM:615236
Gm1 Gangliosidosis	Optic atrophy, Cherry red spot of the macula, Abnormal retinal vascular morphology, Retinopathy o...	ORPHA:354
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp...	OMIM:115197
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Abnormality of exocrine pancreas physiology, Hyperuricemia	ORPHA:93111
Albinism, Oculocutaneous, Type Ia	Photophobia, Hypoplasia of the fovea, Reduced visual acuity, Myopia, Visual impairment, Ocular al...	OMIM:203100
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Episodic ataxia, Vomiting, Hyperammonemia, Episodic ammonia intoxication, Failure to thrive, Atax...	OMIM:311250
Hereditary Xanthinuria	Hyperxanthinemia, Hypouricemia	ORPHA:3467
Attrv122I Amyloidosis	Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valve stenos...	ORPHA:85451
Combined Oxidative Phosphorylation Deficiency 29	Retinopathy, Optic atrophy, Optic neuropathy, Axonal degeneration	OMIM:616811
Mulibrey Nanism	Cardiomegaly, Hepatomegaly, Myocardial fibrosis, Pericardial constriction	OMIM:253250
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia	OMIM:601198
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy	OMIM:614702
Dihydropyrimidinase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating thymine concentration, F...	OMIM:222748
Neurodegeneration With Brain Iron Accumulation 2A	Optic atrophy, Decreased nerve conduction velocity, Visual loss	OMIM:256600
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Endocardial fibroelastosis	OMIM:212140
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Optic atrophy, Cerebral visual impairment, Myopia, Hypermetropia	OMIM:616875
Spastic Paraplegia Type 2	Optic atrophy	ORPHA:99015
Pontocerebellar Hypoplasia, Type 2A	Optic atrophy, Visual impairment	OMIM:277470
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy	OMIM:619051
Joubert Syndrome 5	Congenital blindness, Rod-cone dystrophy, Reduced visual acuity, Retinal coloboma	OMIM:610188
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Optic atrophy, Visual impairment, Opto-chiasmatic atrophy	OMIM:620089
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Macular edema, Retinal cotton wool spot, Abnormal retinal vascular morphology, Retinal neovascula...	ORPHA:247691
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Blindness	OMIM:250940
Alport Syndrome	Renal glomerular foam cells, Aortic aneurysm, Macular degeneration, Abnormal aortic morphology, R...	ORPHA:63
Gaucher Disease, Type I	Macular atrophy	OMIM:230800
Cryptococcosis	Abnormal cranial nerve morphology, Abnormality of vision, Blindness, Abnormal optic nerve morphol...	ORPHA:1546
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Limb ataxia, Truncal ataxia, Persistence of hemoglobin F, Broad-based gait	OMIM:617101
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor	OMIM:613730
Pyruvate Dehydrogenase E1-Alpha Deficiency	Blindness	ORPHA:79243
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Retinal degeneration	OMIM:208500
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia	OMIM:620152
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Optic atrophy, Peripheral visual field loss, Visual impairment, Diplopia	OMIM:619259
Aorta Coarctation	Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m...	ORPHA:1457
Stt3B-Cdg	Optic atrophy	ORPHA:370924
Mucopolysaccharidosis Type 2	Optic atrophy, Large central visual field defect, Decreased nerve conduction velocity, Retinopath...	ORPHA:580
Renal Cysts And Diabetes Syndrome	Elevated circulating creatinine concentration, Exocrine pancreatic insufficiency, Hyperuricemia	OMIM:137920
Stankiewicz-Isidor Syndrome	Cerebral visual impairment, Abnormal optic disc morphology	OMIM:617516
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Failure to thrive, Microcytic anemia	ORPHA:98791
Rodrigues Blindness	Blindness	OMIM:268320
Neurodegeneration With Brain Iron Accumulation 1	Optic atrophy, Retinal degeneration, Pigmentary retinopathy	OMIM:234200
Sandhoff Disease	Orthostatic hypotension, Cherry red spot of the macula, Blindness	OMIM:268800
Shwachman-Diamond Syndrome 1	Steatorrhea, Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Failure t...	OMIM:260400
Coronary Arterial Fistula	Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st...	ORPHA:2041
Aniridia 3	Reduced visual acuity	OMIM:617142
Hermansky-Pudlak Syndrome 11	Reduced visual acuity, Hypoplasia of the fovea, Photophobia, Ocular albinism	OMIM:619172
Cockayne Syndrome Type 3	Retinal dystrophy, Premature coronary artery atherosclerosis, Aortic root aneurysm, Retinal atrop...	ORPHA:90324
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Optic atrophy, Increased cup-to-disc ratio, Cerebral visual impairment	ORPHA:500144
Mucopolysaccharidosis Type 3	Optic atrophy, Constriction of peripheral visual field, Blindness, Myopia, Retinal degeneration, ...	ORPHA:581
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating renin level, ...	ORPHA:168558
Lead Poisoning	Abnormal T cell morphology, Decreased HDL cholesterol concentration, Anemia, Increased LDL choles...	ORPHA:330015
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Optic atrophy, Retinal dysplasia, Retinal atrophy, Hypoplasia of the retina, Retinal degeneration	OMIM:253280
Thymoma	Aplastic anemia, Fever, Pure red cell aplasia, Weight loss, Imbalanced hemoglobin synthesis, Ulce...	ORPHA:99867
Cholera	Hypokalemia, Diarrhea, Hypocalcemia, Vomiting, Hyponatremia, Fever, Abnormal blood ion concentrat...	ORPHA:173
Abetalipoproteinemia	Color vision defect, Scotoma, Abnormality of retinal pigmentation, Hypopigmentation of the fundus...	ORPHA:14
Colchicine Poisoning	Hypokalemia, Hypocalcemia, Diarrhea, Leukocytosis, Vomiting, Hyponatremia, Nausea, Hypomagnesemia...	ORPHA:31824
Sarcoidosis	Hypothermia, Anemia, Parotitis, Increased T cell count, Fever, Leukopenia, Thrombocytopenia, Hype...	ORPHA:797
Primary Fanconi Renotubular Syndrome	Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Decreased circulating carnitine concentrat...	ORPHA:3337
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Recurrent hand flapping, Pulmonic stenosis, Motor stereotypy, Attention deficit hy...	OMIM:617600
Congenital Disorder Of Glycosylation, Type Ix	Optic atrophy	OMIM:615597
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Optic atrophy, Exudative retinopathy, Retinal telangiectasia, Blindness	OMIM:612199
Developmental Malformations-Deafness-Dystonia Syndrome	Blindness	ORPHA:79107
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating renin level, ...	ORPHA:289548
Fatty Acid Hydroxylase-Associated Neurodegeneration	Optic atrophy, Visual field defect, Color vision test abnormality, Slow decrease in visual acuity	ORPHA:329308
Beck-Fahrner Syndrome	Cardiomegaly, Attention deficit hyperactivity disorder, Ventricular septal defect	OMIM:618798
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Optic atrophy, Visual impairment	OMIM:300004
Tay-Sachs Disease	Optic atrophy, Cherry red spot of the macula, Blindness, Visual impairment	ORPHA:845
Neuraminidase Deficiency	Cardiomegaly, Hepatomegaly, Cardiomyopathy, Splenomegaly	OMIM:256550
Adrenoleukodystrophy	Visual loss, Blindness	OMIM:300100
Apparent Mineralocorticoid Excess	Failure to thrive, Decreased circulating renin level, Hypokalemia, Abnormality of circulating cor...	ORPHA:320
Pelizaeus-Merzbacher Disease	Optic atrophy, Visual impairment	ORPHA:702
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypothermia, Anemia, Inability to walk, Gastroesophageal reflux, Broad-based gait, Constipation, ...	ORPHA:438213
Dysosteosclerosis	Optic atrophy, Facial paralysis, Blindness	OMIM:224300
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hypothermia, Hyperlipidemia, Fever, Hyponatremia, Obesity	ORPHA:293987
Momo Syndrome	Chorioretinal coloboma, Blindness	ORPHA:2563
Hydranencephaly	Optic nerve hypoplasia, Chorioretinal atrophy, Blindness	ORPHA:2177
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Constipation, Overweight, Hypothermia, Lethargy	ORPHA:226307
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Corneal Dystrophy, Reis-Bucklers Type	Reduced visual acuity, Photophobia	OMIM:608470
Oculocutaneous Albinism Type 2	Optic nerve misrouting, Macular hypopigmentation, Photophobia, Abnormality of retinal pigmentatio...	ORPHA:79432
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Hypokalemia, Diarrhea, Hypochloremia, Increased serum prostaglandin E2, Increas...	OMIM:601678
Autosomal Dominant Keratitis	Reduced visual acuity, Hypoplasia of the fovea, Macular hypoplasia	ORPHA:2334
Joubert Syndrome 8	Pigmentary retinopathy, Optic disc pallor	OMIM:612291
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,...	ORPHA:439
Cerebrooculonasal Syndrome	Blindness	ORPHA:66625
Renal Tubular Acidosis, Distal, 1	Hypocalcemia, Elevated circulating creatinine concentration, Hypokalemia	OMIM:179800
Trichothiodystrophy	Macular degeneration, Retinal degeneration	ORPHA:33364
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Optic atrophy, Aganglionic megacolon, Myopia, Blindness	ORPHA:847
Gitelman Syndrome	Hypokalemia, Increased circulating renin level, Vomiting, Constipation, Recurrent fever, Hypomagn...	OMIM:263800
Gelatinous Drop-Like Corneal Dystrophy	Reduced visual acuity, Photophobia, Blurred vision	ORPHA:98957
Aprosencephaly And Cerebellar Dysgenesis	Retinal dysplasia	OMIM:601374
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss, Hypokalemia	OMIM:188580
Ziegler-Huang Syndrome	Persistence of hemoglobin F, Macrocytic anemia, Neutropenia	OMIM:620501
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Optic atrophy, Cerebral visual impairment, Myopia	ORPHA:480898
Ectopic Aldosterone-Producing Tumor	Nausea, Decreased circulating renin level, Hypokalemia, Glucocortocoid-insensitive primary hypera...	ORPHA:231632
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle	OMIM:239850
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hyperamylasemia, Hypokalemia	OMIM:604278
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Senior-Loken Syndrome 3	Congenital blindness, Visual loss	OMIM:606995
Granular Corneal Dystrophy Type Ii	Reduced visual acuity, Visual impairment, Blurred vision	ORPHA:98963
Farber Disease	Macular degeneration, CNS foam cells, Cherry red spot of the macula	ORPHA:333
Asparagine Synthetase Deficiency	Optic nerve hypoplasia, Cerebral visual impairment, Blindness	OMIM:615574
Long-Olsen-Distelmaier Syndrome	Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect	OMIM:620609
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Optic atrophy, Chorioretinal coloboma, Macular hypoplasia, Visual impairment	OMIM:615219
Immunodeficiency 87 And Autoimmunity	Autoimmune hemolytic anemia, Hypertriglyceridemia, Hypokalemia, Elevated circulating C-reactive p...	OMIM:619573
Osteoporosis-Pseudoglioma Syndrome	Retinal calcification, Vitreoretinopathy, Exudative retinopathy, Congenital blindness, Blindness	OMIM:259770
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Congenital stationary night blindness, Visual field defect, Myopia, Abnormal optic disc morphology	ORPHA:293967
Sclerosteosis 1	Optic atrophy, Constriction of peripheral visual field, Visual loss, Facial palsy, Papilledema, B...	OMIM:269500
Fetal Cytomegalovirus Syndrome	Optic atrophy, Chorioretinitis, Retinal hemorrhage	ORPHA:294
Micro Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Cerebral visual impairment, Retinal coloboma	ORPHA:2510
Visual Impairment And Progressive Phthisis Bulbi	Reduced visual acuity, Hypermetropia	OMIM:618283
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Optic atrophy	ORPHA:504476
Non-Functioning Pituitary Adenoma	Progressive visual loss, Bitemporal hemianopia, Hemianopia, Heteronymous hemianopia, Sudden loss ...	ORPHA:91349
Hyper-Igd Syndrome	Rod-cone dystrophy, Optic disc pallor, Nyctalopia	OMIM:260920
Familial Hyperaldosteronism Type I	Nausea, Dexamethasone-suppressible primary hyperaldosteronism, Hypokalemia	ORPHA:403
Congenital Sialidosis Type 2	Optic atrophy, Visual loss, Yellow/white lesions of the retina, Hypoplasia of the fovea, Cherry r...	ORPHA:93400
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldostero...	ORPHA:231625
Familial Hyperaldosteronism Type Ii	Nausea, Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism	ORPHA:404
Hemochromatosis, Type 1	Cardiomegaly, Hepatomegaly, Cardiomyopathy, Splenomegaly	OMIM:235200
Mitochondrial Complex I Deficiency, Nuclear Type 28	Optic atrophy, Optic disc pallor, Optic neuropathy	OMIM:618249
Anterior Segment Dysgenesis 5	Reduced visual acuity, Hypoplasia of the fovea	OMIM:604229
Ectodermal Dysplasia-Blindness Syndrome	Abnormality of vision, Blindness	ORPHA:1806
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss, Hypokalemia	OMIM:613239
Hypokalemic Periodic Paralysis	Mildly elevated creatine kinase, Episodic hypokalemia	ORPHA:681
Wolfram Syndrome 2	Optic atrophy, Optic neuropathy	OMIM:604928
Alpha-Mannosidosis, Adult Form	Myopia, Optic disc pallor	ORPHA:309288
Cirrhotic Cardiomyopathy	Left atrial enlargement, Hepatomegaly, Right atrial enlargement, Addictive alcohol use, Left vent...	ORPHA:57777
Prolactinoma	Sudden loss of visual acuity, Bitemporal hemianopia, Hemianopia, Heteronymous hemianopia, Progres...	ORPHA:2965
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Abnormal temper tantrums, Hyperactivity, Recurrent hand flapping, Mitral valve prolapse, Motor st...	ORPHA:449291
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at...	OMIM:620642
Adrenocortical Carcinoma	Elevated serum 11-deoxycortisol, Hypokalemia, Increased body weight, Hyperaldosteronism, Weight l...	ORPHA:1501
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Polycythemia, Methemoglobinemia	OMIM:250800
Hermansky-Pudlak Syndrome 5	Reduced visual acuity, Hypoplasia of the fovea, Ocular albinism	OMIM:614074
Edict Syndrome	Reduced visual acuity, Visual impairment	OMIM:614303
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Gastroesophageal reflux, Overweight, Persistence of hemoglobin F	OMIM:619769
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Visual impairment, Optic disc pallor	OMIM:619167
Hereditary Sensory And Autonomic Neuropathy Type 4	Hypothermia, Anemia, Difficulty walking, Unexplained fevers, Recurrent fever, Dysphagia	ORPHA:642
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Blindness	OMIM:603387
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Abnormal atrioventricular valve morphology, Cardiomegaly, Mitral valve pro...	ORPHA:324410
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati...	OMIM:231005
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Optic atrophy, Retinal dysplasia, Hypermetropia, Retinal detachment, Myopia	OMIM:253800
Metachromatic Leukodystrophy, Late Infantile Form	Optic atrophy, Decreased nerve conduction velocity, Reduced visual acuity	ORPHA:309256
Primary Unilateral Adrenal Hyperplasia	Nausea, Decreased circulating renin level, Hypokalemia, Glucocortocoid-insensitive primary hypera...	ORPHA:231580
Arima Syndrome	Optic atrophy, Blindness, Chorioretinal coloboma, Retinal dystrophy	OMIM:243910
Acquired Methemoglobinemia	Vomiting, Methemoglobinemia	ORPHA:464453
Cornea Plana 2, Autosomal Recessive	Reduced visual acuity, Hypermetropia	OMIM:217300
Hyperaldosteronism, Familial, Type Iii	Hypokalemia, Decreased circulating renin level, Hyperaldosteronism	OMIM:613677
Microphthalmia With Linear Skin Defects Syndrome	Abnormal vitreous humor morphology, Visual loss, Retinal dysplasia, Retinal dystrophy, Blindness,...	ORPHA:2556
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Optic atrophy, Myopia, Reduced visual acuity	OMIM:618727
Mccune-Albright Syndrome	Blindness	OMIM:174800
Liddle Syndrome 2	Decreased circulating renin level, Hypokalemia	OMIM:618114
Liddle Syndrome 3	Decreased circulating renin level, Hypokalemia	OMIM:618126
Friedreich Ataxia	Optic atrophy, Sensory axonal neuropathy, Reduced visual acuity, Decreased motor nerve conduction...	ORPHA:95
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Cardiomegaly, Hepatomegaly	ORPHA:42
Molybdenum Cofactor Deficiency, Complementation Group B	Hypouricemia	OMIM:252160
Metachromatic Leukodystrophy, Juvenile Form	Optic atrophy, Decreased nerve conduction velocity, Reduced visual acuity	ORPHA:309263
Pearson Syndrome	Steatorrhea, Anemia, Hypokalemia, Pancytopenia, Hypocalcemia, Chronic diarrhea, Hyperalaninemia, ...	ORPHA:699
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Optic nerve dysplasia, Blindness, Retinal dysplasia	OMIM:615287
Craniopharyngioma	Optic atrophy, Bitemporal hemianopia, Slow decrease in visual acuity, Papilledema, Abnormal visua...	ORPHA:54595
Fetal And Neonatal Alloimmune Thrombocytopenia	Blindness	ORPHA:853
Bartter Syndrome, Type 5, Antenatal, Transient	Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia	OMIM:300971
Molybdenum Cofactor Deficiency, Complementation Group A	Hypouricemia	OMIM:252150
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr...	OMIM:306955
Kenny-Caffey Syndrome, Type 2	Retinal calcification, Papilledema, Hypermetropia	OMIM:127000
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Athetosis, Primary hyperaldosteronism, Decreased circulating renin level, Hypokalemia	OMIM:615474
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia, Failure to thrive, Hyperaldosteronism	OMIM:613090
Crouzon Syndrome	Optic atrophy, Visual impairment	OMIM:123500
Liddle Syndrome 1	Decreased circulating renin level, Hypokalemia	OMIM:177200
X-Linked Cerebral Adrenoleukodystrophy	Peripheral axonal neuropathy, Reduced visual acuity, Blindness	ORPHA:139396
Gm1 Gangliosidosis Type 1	Cherry red spot of the macula, Blindness	ORPHA:79255
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hypokalemia, Athetosis, Hyperaldosteronism, Nausea	ORPHA:369929
Combined Oxidative Phosphorylation Deficiency 33	Cardiomegaly, Hepatomegaly, Cardiomyopathy, Left ventricular hypertrophy	OMIM:617713
Idiopathic Pulmonary Hemosiderosis	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly	ORPHA:99931
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Hypomagnesemia	ORPHA:564178
Familial Hyperaldosteronism Type Iii	Nausea, Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism	ORPHA:251274
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Retinal detachment, Myopia, Blindness	OMIM:225400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Pigmentary retinopathy, Retinal dysplasia	OMIM:613154
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Hypokalemia, Diarrhea, Hypochloremia, Increased serum prostaglandin E2, Increas...	OMIM:241200
Meningioma	Bitemporal hemianopia, Slow decrease in visual acuity, Facial palsy, Visual acuity test abnormali...	ORPHA:2495
Bohring-Opitz Syndrome	Optic atrophy, Retinal atrophy	ORPHA:97297
Von Hippel-Lindau Disease	Visual loss, Pancreatic endocrine tumor, Retinal detachment, Adrenal pheochromocytoma, Retinal ca...	ORPHA:892
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Optic nerve hypoplasia, Retinal dystrophy, Nyctalopia	OMIM:619321
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Right atrial enlargement	OMIM:614473
Menkes Disease	Gastrointestinal hemorrhage, Hypothermia	ORPHA:565
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Cardiomegaly, Ventricular septal defect, Hypertrophic cardiomyopathy	OMIM:616897
Dermatoosteolysis, Kirghizian Type	Nyctalopia	ORPHA:1657
Axenfeld-Rieger Syndrome, Type 2	Blindness	OMIM:601499
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Retinopathy, Optic atrophy, Diplopia	ORPHA:220295
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypokalemia, Dysdiadochokinesis, Increased circulating renin level, Hypomagnesemia, Ataxia, Hyper...	OMIM:612780
Say-Barber-Miller Syndrome	Optic atrophy, Macular degeneration, Rod-cone dystrophy	ORPHA:3132
Congenital Hereditary Endothelial Dystrophy Type Ii	Reduced visual acuity, Blurred vision	ORPHA:293603
Granular Corneal Dystrophy Type I	Visual impairment, Reduced visual acuity, Photophobia	ORPHA:98962
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Optic atrophy, Retinal detachment, Abnormality of retinal pigmentation, Myopia, Amblyopia	ORPHA:394
Occipital Horn Syndrome	Hypothermia, Gastroesophageal reflux, Gastroparesis, Esophagitis, Dysphagia	ORPHA:198
Gm2-Gangliosidosis, Ab Variant	Blindness	OMIM:272750
Mitochondrial Complex I Deficiency, Nuclear Type 1	Blindness, Optic disc pallor, Optic neuropathy	OMIM:252010
Cockayne Syndrome A	Optic atrophy, Decreased nerve conduction velocity, Hypermetropia, Abnormal peripheral myelinatio...	OMIM:216400
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy	OMIM:201475
Bartter Syndrome Type 4	Severe failure to thrive, Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatr...	ORPHA:89938
Corneal Dystrophy, Fuchs Endothelial, 6	Reduced visual acuity	OMIM:613270
Neurodegeneration With Brain Iron Accumulation 4	Optic atrophy, Motor axonal neuropathy, Abnormal lower motor neuron morphology, Progressive visua...	OMIM:614298
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypomagnesemia, Hypokalemia	OMIM:618314
Primary Hyperoxaluria	Optic atrophy, Choroidal neovascularization, Retinopathy, Reduced visual acuity, Optic disc pallor	ORPHA:416
Double Outlet Left Ventricle	Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv...	ORPHA:3427
Mucopolysaccharidosis Type 2, Severe Form	Optic atrophy, Retinopathy, Abnormal foveal morphology, Papilledema, Abnormality of retinal pigme...	ORPHA:217085
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated circulating alpha-fetoprotein concentration, Elevated circulating creatinine concentrati...	OMIM:613095
Cataract 49	Reduced visual acuity	OMIM:619593
Cystinosis, Nephropathic	Photophobia, Pigmentary retinopathy, Retinopathy, Reduced visual acuity, Visual impairment, Retin...	OMIM:219800
Osteopetrosis With Renal Tubular Acidosis	Optic atrophy, Retinal atrophy, Abnormal retinal morphology	ORPHA:2785
Mucopolysaccharidosis Type 2, Attenuated Form	Optic atrophy, Retinopathy, Abnormal foveal morphology, Papilledema, Abnormality of retinal pigme...	ORPHA:217093
Biotinidase Deficiency	Optic atrophy, Nonprogressive visual loss, Scotoma, Optic neuropathy	ORPHA:79241
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Decreased nerve conduction velocity, Pigmentary retinopathy	OMIM:610651
Craniofaciofrontodigital Syndrome	Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus...	ORPHA:363705
Combined Oxidative Phosphorylation Deficiency 15	Optic atrophy, Reduced visual acuity, Optic disc pallor	OMIM:614947
Corneal Dystrophy, Posterior Polymorphous, 3	Reduced visual acuity	OMIM:609141
Plasminogen Deficiency, Type I	Blindness	OMIM:217090
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Biotinidase Deficiency	Optic atrophy, Visual loss	OMIM:253260
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Inability to walk, Hypokalemia, Gastroesophageal reflux, Hypocalcemia, Hyponatremia, ...	OMIM:617913
Vipoma	Hypokalemia, Normochromic anemia, Secretory diarrhea, Hypercalcemia, Weight loss, Increased circu...	ORPHA:97282
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyperkalemia, Hypochloremia, Vomiting, Hyponatremia, Failure to thrive, Decreased circulating cor...	ORPHA:90794
Complete Atrioventricular Septal Defect	Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul...	ORPHA:1329
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Photophobia, Blindness	OMIM:148210
Cogan Syndrome	Blindness, Reduced visual acuity, Photophobia	ORPHA:1467
Danon Disease	Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card...	OMIM:300257
Knobloch Syndrome 1	Retinal detachment, High myopia, Chorioretinal atrophy, Vitreoretinopathy, Optic disc pallor, Att...	OMIM:267750
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Atypical Werner Syndrome	Premature arteriosclerosis, Coronary artery atherosclerosis, Abnormality of retinal pigmentation,...	ORPHA:79474
Osteopetrosis, Autosomal Recessive 7	Optic atrophy, Optic nerve compression, Progressive visual loss	OMIM:612301
Achalasia-Addisonianism-Alacrima Syndrome	Optic atrophy, Orthostatic hypotension, Motor axonal neuropathy, Abnormal autonomic nervous syste...	OMIM:231550
Peroxisome Biogenesis Disorder 1B	Optic atrophy, Rod-cone dystrophy	OMIM:601539
Igg4-Related Dacryoadenitis And Sialadenitis	Blindness, Optic nerve compression, Abnormal optic nerve morphology	ORPHA:79078
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Visual loss, Amblyopia, Blindness	ORPHA:2250
Helix Syndrome	Heat intolerance, Hypermagnesemia, Xerostomia, Hypokalemia	OMIM:617671
Carnitine Palmitoyltransferase I Deficiency	Cardiomegaly, Hepatomegaly	OMIM:255120
Hypomagnesemia 2, Renal	Hypomagnesemia, Hypokalemia	OMIM:154020
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Constriction of peripheral visual field, Macular atrophy, Nyctalopia	OMIM:619418
Stickler Syndrome	Abnormal vitreous humor morphology, Retinal detachment, Lattice retinal degeneration, Visual impa...	ORPHA:828
Mucoepithelial Dysplasia, Hereditary	Photophobia, Blindness	OMIM:158310
Corneodermatoosseous Syndrome	Hemeralopia, Photophobia, Nyctalopia	ORPHA:3194
Naxos Disease	Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h...	OMIM:601214
Distal Renal Tubular Acidosis	Hypokalemia, Diarrhea, Vomiting, Constipation, Failure to thrive, Hemolytic anemia	ORPHA:18
Norrie Disease	Abnormal chorioretinal morphology, Optic atrophy, Abnormal vitreous humor morphology, Retinal det...	ORPHA:649
Webb-Dattani Syndrome	Blindness	OMIM:615926
Hyperoxaluria, Primary, Type I	Optic atrophy, Choroidal neovascularization, Optic neuropathy, Retinopathy, Retinal crystals	OMIM:259900
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Dysphagia, Right ventricular hypertrophy	ORPHA:268
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyperkalemia, Hyponatremia	OMIM:201810
Infantile Nephropathic Cystinosis	Hypokalemia, Vomiting, Constipation, Failure to thrive, Hypophosphatemia, Abnormal blood ion conc...	ORPHA:411629
Pseudo-Torch Syndrome 3	Cardiomegaly	OMIM:618886
Renal Tubular Acidosis Iii	Hypokalemia	OMIM:267200
Fucosidosis	Cardiomegaly, Hepatomegaly	ORPHA:349
Tsh-Secreting Pituitary Adenoma	Progressive visual loss, Bitemporal hemianopia, Hemianopia, Abnormal visual field test, Heteronym...	ORPHA:91347
Mercury Poisoning	Nausea, Episodic vomiting, Hypokalemia	ORPHA:330021
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Dysphagia, Cardiomegaly	OMIM:608013
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Visual loss, Retinal dystrophy, Abnormal optic disc morphology, Subretinal deposits, Myopia	ORPHA:397715
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomegaly, Hepatomegaly, Cardiomyopathy, Splenomegaly	ORPHA:465508
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature	Optic atrophy	OMIM:609037
Phace Association	Optic atrophy, Optic nerve hypoplasia, Increased retinal vascularity, Horner syndrome	OMIM:606519
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Cardiomyopathy	OMIM:105210
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Macular degeneration, Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal dystrophy	OMIM:266920
Mogs-Cdg	Hepatomegaly, Hepatosplenomegaly, Left ventricular hypertrophy, Cardiomegaly, Atrial septal defect	ORPHA:79330
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Gastroesophageal reflux, Hypokalemia, Vomiting, Hyponatremia, Failure to thrive, Ataxia	OMIM:618426
Behçet Disease	Photophobia, Optic neuritis, Retinopathy, Retrobulbar optic neuritis, Blindness	ORPHA:117
Temtamy Preaxial Brachydactyly Syndrome	Optic atrophy, Abnormal optic disc morphology	ORPHA:363417
Fanconi Renotubular Syndrome 1	Hypophosphatemia, Hypokalemia	OMIM:134600
Craniotubular Dysplasia, Ikegawa Type	Optic atrophy, Optic nerve compression, Cerebral visual impairment, Optic neuropathy, Visual impa...	OMIM:619727
Glycogen Storage Disease Of Heart, Lethal Congenital	Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly,...	OMIM:261740
Weill-Marchesani Syndrome 1	High myopia, Blindness	OMIM:277600
Amoebiasis Due To Free-Living Amoebae	Visual loss, Photophobia, Facial palsy, Blindness, Diplopia	ORPHA:68
Dpagt1-Cdg	Optic atrophy, Rod-cone dystrophy, Nyctalopia, Diffuse optic disc pallor	ORPHA:86309
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort...	OMIM:620066
Developmental And Epileptic Encephalopathy 95	Cardiomegaly, Inappropriate laughter, Hepatomegaly	OMIM:618143
Interatrial Communication	Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a...	ORPHA:1478
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Hypokalemia, Increased circulating corticosterone level, Decreased circulating renin level, Failu...	ORPHA:90793
Turcot Syndrome With Polyposis	Visual acuity no light perception, Hyperpigmentation of the fundus, Epiretinal membrane, Papilled...	ORPHA:99818
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy	ORPHA:1517
Romano-Ward Syndrome	Hypokalemia	ORPHA:101016
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Overriding aorta, Ventricular septal defect	OMIM:617022
Bartter Syndrome, Type 3	Increased circulating renin level, Hypokalemia, Hyperchloriduria, Hyperaldosteronism	OMIM:607364
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	HbH hemoglobin, Hypochromic microcytic anemia, Gastroesophageal reflux, Reduced alpha/beta synthe...	OMIM:301040
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypermetropia, Retinal hemorrhage, Visual field defect, Peripapillary atrophy, Reduced visual acu...	OMIM:175780
Retinoblastoma	Retinoblastoma, Retinal calcification, Subretinal pigment epithelium hemorrhage, Abnormality of r...	ORPHA:790
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Visual impairment, Optic nerve hypoplasia, Cerebral visual impairment, Blindness	OMIM:620455
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly, Enlarged kidney	OMIM:608836
Autosomal Dominant Kenny-Caffey Syndrome	Retinal calcification, Papilledema, Hypermetropia	ORPHA:93325
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Patent foramen ovale, Mitral valve prolapse, Left ventricular hypertrophy,...	OMIM:245600
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	ORPHA:308552
Sickle Cell Disease	Cardiomegaly, Hepatomegaly, Splenomegaly	OMIM:603903
Gitelman Syndrome	Hypermagnesemia, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Diarrhea, Constipation, Failu...	ORPHA:358
Pituitary Adenoma 4, Acth-Secreting	Abdominal obesity, Obesity, Hypokalemia	OMIM:219090
Congenital Disorder Of Glycosylation, Type It	Cardiomegaly, Dilated cardiomyopathy, Ventricular septal defect, Hepatomegaly	OMIM:614921
Bardet-Biedl Syndrome	Color vision defect, Aganglionic megacolon, Retinal dystrophy, Photophobia, Cone/cone-rod dystrop...	ORPHA:110
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Hypermetropia, Optic nerve hypoplasia, Facial palsy, Retinal coloboma, Abnormal optic disc morpho...	ORPHA:508498
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Patent foramen ovale, Ventricular septal defect, Impulsivity, Left ventricular noncompaction card...	OMIM:300967
Saul-Wilson Syndrome	Nyctalopia	OMIM:618150
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy	ORPHA:158687
Vici Syndrome	Hypopigmentation of the fundus, Macular atrophy, Macular hypoplasia, Ocular albinism	OMIM:242840
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy	OMIM:208000
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia, Failure to thrive, Hyperaldosteronism	OMIM:602522
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Pulmonic stenosis, Hepatosplenomegaly, Splenomegaly, Mitral valve prolapse, Cardiom...	OMIM:602782
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyperkalemia, Elevated serum 11-deoxycortisol, Decreased circulating renin level, Hyponatremia, D...	OMIM:201750
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cardiomegaly, Hepatomegaly, Cardiomyopathy, Abnormal myocardium morphology	ORPHA:228308
Oculocerebrorenal Syndrome Of Lowe	Anemia, Hypokalemia, Gastroesophageal reflux, Constipation, Hyponatremia, Failure to thrive, Thro...	ORPHA:534
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly	OMIM:620306
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio...	ORPHA:95430
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating renin level, Decreased circulating cortisol level, Hypokalemia	ORPHA:90795
Absence Of The Pulmonary Artery	Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom...	ORPHA:980
Scorpion Envenomation	Increased circulating NT-proBNP concentration, Hypokalemia, Diarrhea, Vomiting, Fever, Ataxia, In...	ORPHA:466677
Weill-Marchesani Syndrome 2	High myopia, Blindness	OMIM:608328
Truncus Arteriosus	Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Pulmoni...	ORPHA:3384
Mucopolysaccharidosis, Type Iiid	Visual impairment, Nyctalopia	OMIM:252940
Histidinemia	Hyperactivity	ORPHA:2157
Ramon Syndrome	Optic disc pallor, Pigmentary retinopathy	OMIM:266270
Leprosy	Abnormal seventh cranial physiology, Enlarged peripheral nerve, Abnormal autonomic nervous system...	ORPHA:548
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ...	ORPHA:1677
17Q11 Microdeletion Syndrome	Multiple mucosal neuromas, Retinal vascular proliferation, Pheochromocytoma, Plexiform neurofibro...	ORPHA:97685
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly	ORPHA:2463
Glycogen Storage Disease Ii	Cardiomegaly, Hepatomegaly, Splenomegaly	OMIM:232300
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Decreased circulating renin level, Elevated serum 11-deoxycortisol, Hypokalemia	OMIM:202010
Fucosidosis	Cardiomegaly, Hepatomegaly, Splenomegaly	OMIM:230000
Tubulointerstitial Nephritis And Uveitis Syndrome	Choroidal neovascularization, Photophobia, Cystoid macular edema, Chorioretinal scar, Retinal vas...	ORPHA:91500
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly	OMIM:252500
Ogden Syndrome	Left atrial enlargement, Perimembranous ventricular septal defect, Enlarged kidney, Cardiomegaly,...	OMIM:300855
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Dysphagia, Left ventricular hypertrophy, Cardiomegaly	ORPHA:365
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
Microphthalmia, Syndromic 6	Myopia, Blindness, Retinal dystrophy	OMIM:607932
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Leprechaunism	Hypokalemia, Decreased body weight, Increased circulating renin level, Failure to thrive, Hyperal...	ORPHA:508
Andersen Cardiodysrhythmic Periodic Paralysis	Hypokalemia	OMIM:170390
Nelson Syndrome	Secondary hypercortisolism, Hypokalemia, Increased circulating cortisol level	ORPHA:199244
Proximal Renal Tubular Acidosis	Bicarbonaturia, Hypokalemia, Diarrhea, Vomiting, Failure to thrive	ORPHA:47159
Rabson-Mendenhall Syndrome	Increased C-peptide level, Hypokalemia	ORPHA:769
Renpenning Syndrome 1	Blindness, Hypermetropia	OMIM:309500
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Paternal Uniparental Disomy Of Chromosome 6	Cardiomegaly, Ventricular septal defect, Hepatomegaly	ORPHA:96191
Hepatoerythropoietic Porphyria	Blindness	ORPHA:95159
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Cardiomegaly, Patent foramen ovale	OMIM:620371
Histiocytoid Cardiomyopathy	Cardiomegaly, Ventricular septal defect, Hepatomegaly	ORPHA:137675
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomyopathy, Pancreatic hyperplasia, Cardiomegaly	OMIM:130650
7Q11.23 Microduplication Syndrome	Abnormal optic disc morphology	ORPHA:96121
Generalized Glucocorticoid Resistance Syndrome	Hypokalemia, Increased circulating cortisol level	ORPHA:786
Tropical Endomyocardial Fibrosis	Left atrial enlargement, Endocardial fibrosis, Right ventricular cardiomyopathy, Hepatomegaly, Re...	ORPHA:75565
Congenital Erythropoietic Porphyria	Blindness	ORPHA:79277
Fraser Syndrome 1	Blindness	OMIM:219000
Williams Syndrome	Abnormal endocardium morphology, Cardiomegaly, Compulsive behaviors, Hypertrophic cardiomyopathy,...	ORPHA:904
Autoinflammatory Disease, Systemic, With Vasculitis	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Splenomegaly	OMIM:620376
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Photophobia, Visual loss, Blindness	ORPHA:95455
Aicardi-Goutières Syndrome	Cardiomegaly, Hepatosplenomegaly, Hypertrophic cardiomyopathy	ORPHA:51
Menke-Hennekam Syndrome 1	Blindness, Hypermetropia	OMIM:618332
Microphthalmia, Syndromic 1	Blindness, Aganglionic megacolon, Chorioretinal coloboma, Optic disc coloboma	OMIM:309800
Alkaptonuria	Hemolytic anemia, Methemoglobinemia	ORPHA:56
Liver Disease, Severe Congenital	Left atrial enlargement, Hepatomegaly, Patent foramen ovale, Dilatation of the ventricular cavity...	OMIM:619991
Yunis-Varon Syndrome	Cardiomyopathy, Tetralogy of Fallot, Cardiomegaly, Atrial septal defect, Ventricular septal defect	ORPHA:3472
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Visceromegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiome...	ORPHA:116
Fraser Syndrome	Blindness	ORPHA:2052
Alström Syndrome	Drusen, Visual loss, Retinal dystrophy, Photophobia, Blindness, Cone/cone-rod dystrophy, Visual f...	ORPHA:64
Proteasome-Associated Autoinflammatory Syndrome 1	Cardiomegaly, Hepatomegaly, Splenomegaly	OMIM:256040
Singleton-Merten Syndrome 1	Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv...	OMIM:182250
Generalized Arterial Calcification Of Infancy	Cardiomegaly, Pericardial effusion, Ventricular hypertrophy, Myocardial calcification	ORPHA:51608
Vascular Ehlers-Danlos Syndrome	Hypokalemia	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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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
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 21.0 Data