Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Blindness, Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Lar... |
ORPHA:59181 |
Bietti Crystalline Dystrophy |
|
Blindness, Retinal pigment epithelial atrophy, Retinal thinning, Large central visual field defec... |
ORPHA:41751 |
Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... |
ORPHA:75377 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Blindness, Cataract, Nyctalopia, Reduce... |
OMIM:613731 |
Retinitis Pigmentosa |
|
Keratoconus, Abnormality of retinal pigmentation, Blindness, Cataract, Abnormal retinal vascular ... |
ORPHA:791 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Optic disc pallor, Diabetes mellitus, Impaired glucose tolerance, Blind-spot enlargment, Optic at... |
OMIM:614296 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be... |
OMIM:614500 |
Retinitis Pigmentosa 27 |
|
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Blindness, Macular ... |
OMIM:613750 |
Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Large central visual... |
ORPHA:85128 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Optic disc pallor, Blindness, Cataract, Fundus atrophy, Nyctalopia, Absent foveal re... |
OMIM:204100 |
Short Stature Due To Ghsr Deficiency |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Abnormality of body weight, Vomiting,... |
ORPHA:314811 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Macular Dystrophy, Patterned, 1 |
|
Metamorphopsia, Choroidal neovascularization, Nyctalopia, Absent foveal reflex, Reduced visual ac... |
OMIM:169150 |
Choroideremia |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Chorioretinal d... |
OMIM:303100 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti... |
ORPHA:263479 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Co... |
OMIM:616544 |
Birdshot Chorioretinopathy |
|
Arcuate scotoma, Choroidal neovascularization, Blind-spot enlargment, Vitritis, Photophobia, Atte... |
ORPHA:179 |
Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Blindness, Keratoconus, Macular atrophy, Nyctalopia, ... |
OMIM:604393 |
Corneal Dystrophy, Avellino Type |
|
Lattice corneal dystrophy, Reduced visual acuity, Visual impairment |
OMIM:607541 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Photophobia, Retinal ... |
ORPHA:364055 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Blindness, Constriction of peripheral... |
OMIM:600138 |
Idiopathic Panuveitis |
|
Blindness, Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal m... |
ORPHA:280921 |
Retinitis Pigmentosa 2 |
|
Pericentral scotoma, Myopia, Constriction of peripheral visual field, Ring scotoma, Bull's eye ma... |
OMIM:312600 |
Retinitis Pigmentosa 42 |
|
Reduced visual acuity, Perifoveal ring of hyperautofluorescence, Peripapillary atrophy, Rod-cone ... |
OMIM:612943 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract, Retinal dystrophy, Nyctalopia, Reduced visual acuity, Truncal obesity, Childhood-onset ... |
OMIM:610156 |
Retinopathy Of Prematurity |
|
Tractional retinal detachment, Blindness, Small for gestational age, Retinal arteriolar tortuosit... |
ORPHA:90050 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Macular Dystrophy, Patterned, 3 |
|
Reduced visual acuity, Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy |
OMIM:617111 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:611040 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Cataract, Macul... |
OMIM:180104 |
Stargardt Disease 3 |
|
Macular flecks, Macular atrophy, Reduced visual acuity, Macular dystrophy, Visual impairment |
OMIM:600110 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Retinal dystrophy, Peripheral retinal atrophy, Nyctalopia, Absent foveal reflex, Reduced visual a... |
OMIM:615147 |
Wagner Vitreoretinopathy |
|
Myopia, Retinal pigment epithelial atrophy, Cataract, Visual loss, Optically empty vitreous, Opti... |
OMIM:143200 |
Cone-Rod Dystrophy 24 |
|
Cone/cone-rod dystrophy, Macular drusen, Myopia, Pericentral scotoma, Macular atrophy, Scotoma, N... |
OMIM:620342 |
X-Linked Retinoschisis |
|
Abnormality of vision, Retinoschisis, Cataract |
ORPHA:792 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Scotoma, Chorioretinal degeneration, Visual loss,... |
OMIM:605670 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Cataract, Scotoma, Optic atrophy, Reduced visual acuity |
OMIM:165300 |
Macular Dystrophy, Vitelliform, 5 |
|
Moderately reduced visual acuity, Central scotoma, Reduced visual acuity, Vitelliform-like macula... |
OMIM:616152 |
Leber Congenital Amaurosis 9 |
|
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... |
OMIM:608553 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Blindness, Nyctalopi... |
OMIM:180210 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Blindness, Cataract, Optic atrophy, Reduced visual acuity, Macular degeneration, Progressive visu... |
OMIM:204200 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Abnormality of vision, Cataract, Optic atrophy |
ORPHA:2253 |
Macular Dystrophy, Patterned, 2 |
|
Drusen, Pattern dystrophy of the retina, Reduced visual acuity, Foveal hyperpigmentation |
OMIM:608970 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Nyctalopia,... |
OMIM:618220 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Cataract, Nyctalopia, Rod-cone dystrophy, Attenuation of... |
OMIM:613801 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Blindness, Cataract, Fundus atrophy, Nyctalopia, Reduced visual acuity, Optic disc d... |
OMIM:204000 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Developmental glaucoma, Insulinoma, Multiple pancreatic beta-cell ade... |
OMIM:147630 |
Leber Congenital Amaurosis 16 |
|
Optic disc pallor, Cataract, Nyctalopia, Reduced visual acuity, Visual field defect, Photophobia,... |
OMIM:614186 |
Morm Syndrome |
|
Retinal atrophy, Retinal dystrophy, Cataract, Photophobia, Truncal obesity, Progressive night bli... |
ORPHA:75858 |
Mucous Membrane Pemphigoid |
|
Atypical scarring of skin, Blindness, Corneal opacity |
ORPHA:46486 |
Optic Atrophy 9 |
|
Optic disc pallor, Red-green dyschromatopsia, Optic atrophy, Reduced visual acuity, Paracentral s... |
OMIM:616289 |
Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Metamorphopsia, Choroidal neovascularization, Amblyopia, Retinal pigment... |
ORPHA:97341 |
Macular Dystrophy, Retinal, 2 |
|
Retinal pigment epithelial atrophy, Central scotoma, Granular macular appearance, Reduced visual ... |
OMIM:608051 |
Sorsby Fundus Dystrophy |
|
Macular dystrophy, Blindness, Chorioretinal atrophy |
OMIM:136900 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Myopia, Retinal pigment epithelial atrophy, Retinal dystrophy, Reduced visual... |
OMIM:616188 |
Late-Onset Retinal Degeneration |
|
Multifocal subretinal deposits, Choroidal neovascularization, Patchy atrophy of the retinal pigme... |
ORPHA:67042 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Retinal atrophy, Reduced visual acuity, Developmental cataract, Posterior synechiae of the anteri... |
OMIM:616722 |
Gyrate Atrophy Of Choroid And Retina |
|
Myopia, Blindness, Constriction of peripheral visual field, Cataract, Chorioretinal degeneration,... |
ORPHA:414 |
Retinal Cone Dystrophy 3B |
|
Cone/cone-rod dystrophy, Myopia, Scotoma, Macular atrophy, Nyctalopia, Reduced visual acuity, Pho... |
OMIM:610356 |
Intermediate Uveitis |
|
Anterior uveitis, Cataract, Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, ... |
ORPHA:279914 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Peripheral retinal atrophy, Drusen, Central scotoma, Reduced visual acuity, Abnormality of macula... |
OMIM:136550 |
Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Optic atrophy, Chorioretinal atrophy, Rod-co... |
OMIM:607921 |
Macular Dystrophy, Vitelliform, 2 |
|
Reduced visual acuity, Subretinal fluid, Cystoid macular degeneration, Macular dystrophy, Visual ... |
OMIM:153700 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Subcapsular cat... |
OMIM:600059 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Very low visual acuity, Corneal opacity, Chorioretinal degeneration,... |
ORPHA:98973 |
Macular Dystrophy, Vitelliform, 3 |
|
Metamorphopsia, Choroidal neovascularization, Macular atrophy, Drusen, Reduced visual acuity, Pho... |
OMIM:608161 |
Retinitis Pigmentosa 29 |
|
Blindness, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:612165 |
Cataract 11, Multiple Types |
|
Blindness, Cataract, Developmental cataract |
OMIM:610623 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Reduced visual acuity, Developmental catar... |
OMIM:604229 |
Mody |
|
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... |
ORPHA:552 |
Exudative Vitreoretinopathy 4 |
|
Blindness, Peripheral retinal avascularization, Reduced visual acuity, Posterior vitreous detachm... |
OMIM:601813 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Retinitis Pigmentosa 80 |
|
Bone spicule pigmentation of the retina, Blindness, Macular atrophy, Nyctalopia, Progressive visu... |
OMIM:617781 |
Gyrate Atrophy Of Choroid And Retina |
|
Myopia, Blindness, Nyctalopia, Foveoschisis, Chorioretinal atrophy, Posterior subcapsular catarac... |
OMIM:258870 |
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy |
|
Blindness, Dysphagia, Developmental cataract |
OMIM:607674 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Nyctalopia, Redu... |
OMIM:304020 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Nyctalopia, R... |
OMIM:614181 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Blindness, Peripheral retinal avascularization, Vitreous floaters, Reduced vi... |
OMIM:133780 |
Retinitis Pigmentosa Inversa With Deafness |
|
Blindness, Rod-cone dystrophy, Retinitis pigmentosa inversa |
OMIM:268010 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Macular dystrophy, Blindness, Reduced visual acuity |
OMIM:601553 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Rod-cone dystrophy, Cataract |
OMIM:300719 |
Retinal Capillary Malformation |
|
Myopia, Blindness, Subretinal exudate, Central fundal arteriolar microaneurysms, Photopsia, Vitre... |
ORPHA:71213 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Diarrhea, Hyperinsulinemia, Vomiting, Failure to thrive |
OMIM:606528 |
Macular Dystrophy, Retinal, 3 |
|
Macular drusen, Retinal pigment epithelial atrophy, Central scotoma, Reduced visual acuity, Color... |
OMIM:608850 |
Cone-Rod Dystrophy 2 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... |
OMIM:120970 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Myopia, Central scotoma, Absent f... |
OMIM:300476 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, C... |
OMIM:616108 |
Bardet-Biedl Syndrome 18 |
|
Rod-cone dystrophy, Retinal dystrophy, Obesity, Cataract |
OMIM:615995 |
Leber Congenital Amaurosis 12 |
|
Congenital blindness, Abnormality of macular pigmentation |
OMIM:610612 |
Bardet-Biedl Syndrome 21 |
|
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Myopia, Retinal atrophy, Retinal thinning, Blin... |
OMIM:617406 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Blindness, Nyctalopia, Retinal arteriolar occlusion, Pulverulent cataract, De... |
OMIM:193220 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Blindness, Visual loss, Optic atrophy, Pigmentary retinopathy, Retinopathy |
OMIM:610951 |
Retinitis Pigmentosa 35 |
|
Blindness, Rod-cone dystrophy, Reduced visual acuity, Nyctalopia |
OMIM:610282 |
Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal thinnin... |
OMIM:617123 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ph... |
OMIM:609913 |
Exudative Vitreoretinopathy 5 |
|
Reduced visual acuity, Exudative vitreoretinopathy, Shallow anterior chamber, Falciform retinal f... |
OMIM:613310 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Abnormality of retinal pigmentation, Myopia, Abnormal chorioretinal morphology, Hypoglycemia, Vis... |
ORPHA:5 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:610359 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:601718 |
Usher Syndrome Type 3 |
|
Cataract, Scotoma, Visual loss, Nyctalopia, Hemianopia, Astigmatism, High hypermetropia, Iris hyp... |
ORPHA:231183 |
Senior-Loken Syndrome 6 |
|
Rod-cone dystrophy, Reduced visual acuity, Visual impairment |
OMIM:610189 |
Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field... |
OMIM:617304 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Ma... |
OMIM:615922 |
Retinitis Pigmentosa 7 |
|
Constriction of peripheral visual field, Nyctalopia, Adult-onset night blindness, Chorioretinal a... |
OMIM:608133 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... |
ORPHA:171706 |
Retinitis Pigmentosa 47 |
|
Nyctalopia, Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Visual impairment |
OMIM:613758 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Reduced visual acuity, Microcornea, Buphthalmos, Anterio... |
OMIM:269400 |
Macular Dystrophy, Vitelliform, 1 |
|
Reduced visual acuity, Visual field defect, Vitelliform-like macular lesions, Macular dystrophy, ... |
OMIM:153840 |
Retinitis Pigmentosa 83 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Vitreous floate... |
OMIM:618173 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo... |
OMIM:256450 |
Cataract 42 |
|
Myopia, Cataract, Developmental cataract |
OMIM:115900 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Constriction of peripheral visual field, Macular atrophy, Nyctalopia, Hypermetropia, Shallow ante... |
OMIM:267760 |
Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization, Reduced visual acuity |
OMIM:616118 |
Phacoanaphylactic Uveitis |
|
Abnormal pupil morphology, Vitritis, Photophobia, Pseudophakia, Posterior uveitis, Corneal kerati... |
ORPHA:209959 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Neovascular Glaucoma |
|
Retinal detachment, Abnormal posterior eye segment morphology, Iris neovascularization, Retinal v... |
ORPHA:94058 |
Cone-Rod Dystrophy 12 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Central scotoma, Nyctalopia, Reduced visual acui... |
OMIM:612657 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Leber Hereditary Optic Neuropathy, Autosomal Recessive 1 |
|
Retinal telangiectasia, Retinal nerve fiber edema, Central scotoma, Central retinal vessel vascul... |
OMIM:619382 |
Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Constriction of peri... |
OMIM:619007 |
Retinitis Pigmentosa 68 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Nyctalopia, Reduced visual acuity, Visu... |
OMIM:615725 |
Chromosome Xq21 Deletion Syndrome |
|
Constriction of peripheral visual field, Chorioretinal degeneration, Nyctalopia, Chorioretinal at... |
OMIM:303110 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Redu... |
OMIM:309300 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestati... |
OMIM:601820 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Corneal dystrophy, Map-dot-fingerprint corneal dystrophy, Reduced visual acuity, Recurrent cornea... |
OMIM:121820 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Myopia, Constriction of peripheral vi... |
OMIM:180100 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:180105 |
Macular Dystrophy, Retinal, 4 |
|
Reduced OCT-measured foveal thickness, Nyctalopia, Choroidal neovascularization, Reduced visual a... |
OMIM:619977 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Diarr... |
OMIM:600955 |
Cone-Rod Dystrophy 15 |
|
Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Nyctalopia, Photopho... |
OMIM:613660 |
Retinitis Pigmentosa 66 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:615233 |
Maternally-Inherited Diabetes And Deafness |
|
Cataract, Abnormal chorioretinal morphology, Constipation, Type II diabetes mellitus, Macular dys... |
ORPHA:225 |
Achromatopsia |
|
Hypoplasia of the fovea, Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial m... |
ORPHA:49382 |
Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Ultra-low vision wi... |
OMIM:612109 |
Retinitis Pigmentosa 37 |
|
Constriction of peripheral visual field, Red-green dyschromatopsia, Nyctalopia, Posterior subcaps... |
OMIM:611131 |
Usher Syndrome Type 1 |
|
Cataract, Scotoma, Abnormal dental enamel morphology, Visual loss, Nyctalopia, Hemianopia, High h... |
ORPHA:231169 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:613983 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Reduced visual acuity, Microcornea, Posterior synechiae ... |
OMIM:610256 |
Retinitis Pigmentosa 78 |
|
Optic disc pallor, Photopsia, Nyctalopia, Reduced visual acuity, Visual field defect, Cystoid mac... |
OMIM:617433 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Leukocoria, Uveitis, Retinal ... |
OMIM:221900 |
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures |
|
Optic disc pallor, Blind-spot enlargment, Cerulean cataract, Central scotoma, Reduced visual acui... |
OMIM:616732 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Mildly reduced visual acuity, Cataract, Vitreous floaters, Lattice retinal de... |
OMIM:614292 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ... |
OMIM:617547 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Amblyopia, Developmental cataract, Microcornea, Iris coloboma, Vi... |
OMIM:604219 |
Newfoundland Rod-Cone Dystrophy |
|
Retinal dystrophy, Scotoma, Nyctalopia, Visual impairment, Color vision defect |
OMIM:607476 |
Mental Retardation With Optic Atrophy, Deafness, And Seizures |
|
Blindness, Optic atrophy, Severely reduced visual acuity |
OMIM:309555 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Constriction of peripheral visual field, Peripheral retinal atrophy, Macular a... |
OMIM:613862 |
Congenital Stationary Night Blindness |
|
Abnormality of retinal pigmentation, Myopia, Retinal thinning, Nyctalopia, Reduced visual acuity,... |
ORPHA:215 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:613581 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Retinal detachment, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Congenita... |
ORPHA:436182 |
Retinitis Pigmentosa 20 |
|
Nyctalopia, Severely reduced visual acuity, Rod-cone dystrophy, Visual impairment, Attenuation of... |
OMIM:613794 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:617871 |
Nanophthalmos 4 |
|
Microphthalmia, Optic disc drusen |
OMIM:615972 |
Corneal Dystrophy, Lattice Type Iiia |
|
Corneal erosion, Reduced visual acuity, Visual impairment, Lattice corneal dystrophy |
OMIM:608471 |
Cone-Rod Dystrophy 22 |
|
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... |
OMIM:619531 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Reduced visual acu... |
OMIM:612712 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Retinitis Pigmentosa 54 |
|
Bone spicule pigmentation of the retina, Fundus atrophy, Nyctalopia, Rod-cone dystrophy, Visual i... |
OMIM:613428 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Hypergonadotropic hypogonadism, Hyperinsulinemia, ... |
ORPHA:3085 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Chromosome 16Q12 Duplication Syndrome |
|
Cataract, Retinal pigment epithelial mottling, Nyctalopia, Reduced visual acuity, High myopia, Ph... |
OMIM:619649 |
Corneal Dystrophy, Gelatinous Drop-Like |
|
Corneal dystrophy, Reduced visual acuity, Photophobia, Visual impairment, Blurred vision |
OMIM:204870 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:616469 |
Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Central scotoma, Nyctalopi... |
ORPHA:52427 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:617460 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Blindness, Cataract, Abnormality of retinal pigmentation, Visual loss, Lens s... |
ORPHA:171844 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Optic disc pallor, Retinal dystrophy, Central scotoma, Nyctalopia, Reduced visual acuity, Photoph... |
OMIM:616079 |
Retinitis Pigmentosa 3 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Ring scotoma, N... |
OMIM:300029 |
Choroideremia |
|
Abnormality of retinal pigmentation, Myopia, Nyctalopia, Abnormality of vision, Progressive visua... |
ORPHA:180 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Optic disc pallor, Retinal thinning, Reduced visual acuity, Photophobia, Hyperglycemia |
OMIM:618970 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Retinitis Pigmentosa 18 |
|
Scotoma, Nyctalopia, Progressive visual field defects, Retinal arteriolar constriction, Rod-cone ... |
OMIM:601414 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Nyctalopia, Reduced visual acuity, Retinal flecks, Rod-con... |
OMIM:613194 |
Retinitis Pigmentosa 71 |
|
Optic disc pallor, Nyctalopia, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-c... |
OMIM:616394 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Hypoplasia of the fovea, Iris cyst, Optic atrophy |
OMIM:620086 |
Oculocutaneous Albinism Type 6 |
|
Abnormal iris pigmentation, Reduced visual acuity, Abnormal fundus morphology, Abnormal foveal mo... |
ORPHA:370097 |
Ã…land Islands Eye Disease |
|
Hypoplasia of the fovea, Myopia, Difficulty adjusting from light to dark, Reduced visual acuity, ... |
ORPHA:178333 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Large ... |
ORPHA:324575 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Obesity, High myopia,... |
OMIM:613464 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Blindness, Ring scotoma, Cataract, Flexion contracture o... |
OMIM:609033 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia, Optic atrophy |
ORPHA:1574 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Blindness, Flexion contracture, Optic atrophy, Macular degeneration, Progressive visual loss, Ret... |
OMIM:256730 |
Cone-Rod Dystrophy 21 |
|
Retinal dystrophy, Macular atrophy, Nyctalopia, Reduced visual acuity, Photophobia |
OMIM:616502 |
Chromosome Xp11.3 Deletion Syndrome |
|
Moderate myopia, Blindness, Constriction of peripheral visual field, Cataract, Nyctalopia, Poster... |
OMIM:300578 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Rod-cone dystrophy, Visual impairment, Atten... |
OMIM:614180 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:602772 |
Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks, Reduced visual acuity |
OMIM:603786 |
Usher Syndrome, Type Iv |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field... |
OMIM:618144 |
Retinitis Pigmentosa 69 |
|
Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Pigmentary retinopath... |
OMIM:615780 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinal pigment epithelial mottling, Blindness, Rod-cone dystrophy, Retinopathy |
OMIM:551500 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:600132 |
Leber Congenital Amaurosis 14 |
|
Optic disc pallor, Retinal dystrophy, Nyctalopia, Reduced visual acuity, Photophobia, Congenital ... |
OMIM:613341 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Cataract-Microcornea Syndrome |
|
Myopia, Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Absent testis |
OMIM:613094 |
Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Ectopia lentis, High myopia, Shallow anterior chamber, Posterior synechiae of the a... |
OMIM:613195 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset t... |
ORPHA:71529 |
Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Central scotoma, Reduced visual acu... |
OMIM:600977 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Photophobia, Rod-cone dystrophy, Color visio... |
OMIM:600852 |
Retinitis Pigmentosa 63 |
|
Optic disc pallor, Nyctalopia, Rod-cone dystrophy, Blurred vision |
OMIM:614494 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Myopia, Cataract, Patchy atrophy of the retina... |
OMIM:616468 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... |
ORPHA:71526 |
Sandhoff Disease |
|
Cherry red spot of the macula, Blindness, Failure to thrive |
ORPHA:796 |
3-Methylglutaconic Aciduria Type 4 |
|
Failure to thrive, Cataract, Hypoglycemia, Iris hypopigmentation |
ORPHA:67048 |
Congenital Microcoria |
|
Blindness, Axial myopia, Iris hypopigmentation, Nyctalopia, Developmental cataract, Photophobia, ... |
ORPHA:566 |
Norrie Disease |
|
Retinal detachment, Blindness, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia o... |
OMIM:310600 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract, Photophobia, High hypermetropia, Severely reduced visual acuity, Attenuati... |
OMIM:613826 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Cataract, Small for gestational age, Increased serum serotonin |
ORPHA:85288 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation, Nyctalopia, Photophobia, Visual impairment, Color vision defect |
ORPHA:1872 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Reduced visual acuity, Astigmatism, Axenfeld anomaly, Foveal hyperpigmen... |
OMIM:609218 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Posterior subcapsular cat... |
OMIM:613810 |
Usher Syndrome, Type Iiia |
|
Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Visual field defect |
OMIM:276902 |
Temporal Arteritis |
|
Blindness, Retinal arteritis |
OMIM:187360 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Achromatopsia 3 |
|
Cataract, Moderately reduced visual acuity, Monochromacy, High myopia, Photophobia, Dyschromatops... |
OMIM:262300 |
Bardet-Biedl Syndrome 5 |
|
Reduced visual acuity, Obesity, Hypogonadism, Macular dystrophy, Rod-cone dystrophy |
OMIM:615983 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Reduced visual acuity, Nummular p... |
OMIM:613835 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Myopia, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retino... |
ORPHA:90654 |
Achromatopsia 7 |
|
Hypoplasia of the fovea, Macular atrophy, Central scotoma, Absent foveal reflex, Reduced visual a... |
OMIM:616517 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Posterior subcapsular cat... |
OMIM:618195 |
Cln3 Disease |
|
Blindness, Cataract, Bull's eye maculopathy, Amblyopia, Optic atrophy, Increased circulating andr... |
ORPHA:228346 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ma... |
OMIM:618826 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:613582 |
X-Linked Corneal Dermoid |
|
Visual loss, Abnormal pupil morphology, Corneal opacity, Visual impairment |
ORPHA:1661 |
Nephronophthisis 15 |
|
Blindness, Obesity, Retinal degeneration |
OMIM:614845 |
Methanol Poisoning |
|
Blindness, Diarrhea, Abnormal optic nerve morphology, Vomiting, Type II diabetes mellitus, Type I... |
ORPHA:31825 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... |
OMIM:606762 |
Cone-Rod Dystrophy 13 |
|
Cone/cone-rod dystrophy, Reduced visual acuity, Photophobia, Macular degeneration, Visual impairm... |
OMIM:608194 |
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation |
|
Keratitis, Absent retinal pigment epithelium, Reduced visual acuity, Failure to thrive, Visual im... |
OMIM:122430 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Retinitis Pigmentosa 85 |
|
Progressive night blindness, Rod-cone dystrophy, Reduced visual acuity |
OMIM:618345 |
Glaucoma, Primary Closed-Angle |
|
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio, Visual field defect |
OMIM:618880 |
Coats Disease |
|
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... |
ORPHA:190 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Optic Pathway Glioma |
|
Papilledema, Blindness, Precocious puberty, Visual loss, Optic atrophy, Reduced visual acuity, Vi... |
ORPHA:2086 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Herpes Simplex Virus Stromal Keratitis |
|
Blindness, Keratitis, Deep anterior chamber, Reduced visual acuity, Herpetiform corneal ulceratio... |
ORPHA:137599 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Blindness, Hyaloid vascular remnant and retrolental ma... |
ORPHA:91495 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy, Hypoglycemia |
OMIM:609016 |
Oculocutaneous Albinism, Type Viii |
|
Hypoplasia of the fovea, Reduced visual acuity, Photophobia, Iris transillumination defect, Chori... |
OMIM:619165 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:606068 |
Cone Dystrophy 4 |
|
Cone/cone-rod dystrophy, Reduced visual acuity, Absent foveal reflex, Photophobia, Dyschromatopsi... |
OMIM:613093 |
Bardet-Biedl Syndrome 4 |
|
Nyctalopia, Obesity, Hypogonadism, Rod-cone dystrophy, Retinal degeneration |
OMIM:615982 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Band keratopathy, Reduced visual acuity, Hypoplasia of the iris, Anterior syne... |
OMIM:614195 |
Retinitis Pigmentosa 92 |
|
Constriction of peripheral visual field, Nyctalopia, Paracentral scotoma, Pigmentary retinopathy,... |
OMIM:619614 |
Macular Dystrophy With Central Cone Involvement |
|
Optic disc pallor, Bull's eye maculopathy, Central scotoma, Red-green dyschromatopsia, Reduced vi... |
OMIM:616170 |
Cavitary Optic Disc Anomalies |
|
Nyctalopia, Peripapillary atrophy, Reduced visual acuity, Visual field defect |
OMIM:611543 |
Prolonged Electroretinal Response Suppression 2 |
|
Mildly reduced visual acuity, Difficulty adjusting to changes in luminance, Reduced visual acuity... |
OMIM:620344 |
Sympathetic Ophthalmia |
|
Retinal detachment, Papilledema, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Reduc... |
ORPHA:79098 |
Retinitis Pigmentosa 6 |
|
Constriction of peripheral visual field, Chorioretinal degeneration, Nyctalopia, Pigmentary retin... |
OMIM:312612 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Blindness, Diarrhea, Pigmentary retinopathy, Vomiting, Type I diabetes mellitus, Failure to thrive |
OMIM:560000 |
Sjogren-Larsson Syndrome |
|
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Opacification of the corn... |
OMIM:270200 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e... |
ORPHA:1473 |
Retinitis Pigmentosa |
|
Constriction of peripheral visual field, Rod-cone dystrophy, Abnormality of fundus pigmentation, ... |
OMIM:268000 |
Cataract 21, Multiple Types |
|
Retinal detachment, Corneal opacity, Cerulean cataract, High myopia, Microcornea, Cortical pulver... |
OMIM:610202 |
Retinitis Pigmentosa 59 |
|
Failure to thrive, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Ro... |
OMIM:613861 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
Osteoporosis-Pseudoglioma Syndrome |
|
Retinal detachment, Corneal opacity, Moderately reduced visual acuity, Isosexual precocious puber... |
ORPHA:2788 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Myopia, Constriction of peripheral visual field, Nyctalopia, Posterior subcaps... |
OMIM:613843 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Cataract, Diarrhea, Weight loss, Failure to thrive |
OMIM:620045 |
Cone Dystrophy 3 |
|
Cone/cone-rod dystrophy, Macular atrophy, Reduced visual acuity, Photophobia, Progressive visual ... |
OMIM:602093 |
X-Linked Neurodegenerative Syndrome, Hamel Type |
|
Blindness |
ORPHA:85336 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa |
|
Absent retinal pigment epithelium, Nyctalopia, Abnormal fundus morphology, Abnormal optic nerve m... |
ORPHA:436274 |
Solitary Fibrous Tumor |
|
Hypoglycemia, Diplopia, Weight loss, Recurrent hypoglycemia, Constipation, Hypoinsulinemia |
ORPHA:2126 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Excessive insulin response to glucagon test, Maternal diabetes, Large for gestational age, Hyperi... |
ORPHA:276580 |
Blue Cone Monochromacy |
|
Blue cone monochromacy, Myopia, Reduced visual acuity, Photophobia, Abnormality of macular pigmen... |
OMIM:303700 |
Acute Zonal Occult Outer Retinopathy |
|
Blind-spot enlargment, Vitritis, Myopia, Retinal pigment epithelial mottling, Hemianopia, Rod-con... |
ORPHA:284454 |
Juvenile Glaucoma |
|
Optic neuropathy, Central scotoma, Abnormality iris morphology, Peripheral visual field loss, Hig... |
ORPHA:98977 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Tritanopia |
|
Abnormal retinal morphology, Reduced visual acuity, Color vision test abnormality, Photophobia, T... |
ORPHA:88629 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Blindness, Large hyperpigmented retina... |
OMIM:193235 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Hypoglycemia, Anterior pituitary hypoplasia, Decreased circulating... |
ORPHA:453533 |
Fleck Retina, Familial Benign |
|
Nyctalopia, Retinal flecks, Visual impairment |
OMIM:228980 |
Bothnia Retinal Dystrophy |
|
Macular degeneration, Nyctalopia, Retinal dystrophy |
OMIM:607475 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Blindness, Myopia, Cataract, Optic nerve hypoplasia |
OMIM:615181 |
Behr Syndrome |
|
Blindness, Achilles tendon contracture, Optic atrophy, Hypoplastic optic chiasm, Adductor longus ... |
OMIM:210000 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Constriction of peripheral visual field, Chorioretinal atrophy, Reduced visual acuity, High myopi... |
OMIM:210370 |
Cerebral Sclerosis, Diffuse, Scholz Type |
|
Blindness |
OMIM:302700 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
2Q24 Microdeletion Syndrome |
|
Cataract, Small for gestational age, Camptodactyly of finger, Abnormality iris morphology, Failur... |
ORPHA:1617 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Fundus Albipunctatus |
|
Nyctalopia, Retinal flecks, Fundus albipunctatus |
OMIM:136880 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Hi... |
OMIM:600105 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... |
ORPHA:276608 |
Infantile Refsum Disease |
|
Failure to thrive, Constriction of peripheral visual field, Cataract, Nyctalopia, Optic atrophy, ... |
ORPHA:772 |
Biemond Syndrome Type 2 |
|
Hypogonadism, Microphthalmia, Hypospadias, Hypogonadotropic hypogonadism |
ORPHA:141333 |
Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Reduced visual acuity, Macular edema, Photo... |
ORPHA:209943 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Flynn-Aird Syndrome |
|
Myopia, Cataract, Cachexia, Abnormality of the thyroid gland, Primary adrenal insufficiency, Type... |
ORPHA:2047 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Cataract, Obesity, Truncal obesity, Astigmatism, Hypergl... |
OMIM:615986 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Reduced visual acuity, Retinal exudate, Exudative vitreoretinopathy, Retinal ... |
OMIM:605750 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Optic Atrophy 12 |
|
Optic disc pallor, Optic atrophy, Reduced visual acuity, Photophobia, Dyschromatopsia, Abnormal I... |
OMIM:618977 |
Wolfram Syndrome, Mitochondrial Form |
|
Blindness, Diabetes mellitus, Optic atrophy, Diabetes insipidus |
OMIM:598500 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H... |
ORPHA:280356 |
Aniridia 2 |
|
Cataract, Amblyopia, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Retinitis Pigmentosa 23 |
|
Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Mild myopia, Posteri... |
OMIM:300424 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Rod-cone dystrophy, Reduced visual acuity, Cataract |
OMIM:619082 |
Severe Canavan Disease |
|
Blindness, Oral-pharyngeal dysphagia, Optic atrophy, Gastroesophageal reflux, Vomiting |
ORPHA:314911 |
Galactokinase Deficiency |
|
Cataract, Small for gestational age, Hypoglycemia, Hypergonadotropic hypogonadism, Hyperinsulinem... |
ORPHA:79237 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Myopia, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane,... |
ORPHA:1067 |
Cone-Rod Dystrophy 6 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Nyctalopia, Ch... |
OMIM:601777 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Blindness, Optic atrophy |
ORPHA:2787 |
Retinal Cone Dystrophy 3A |
|
Cone dystrophy, Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Dyschromatopsia |
OMIM:610024 |
Alstrom Syndrome |
|
Cone/cone-rod dystrophy, Blindness, Constriction of peripheral visual field, Hypergonadotropic hy... |
OMIM:203800 |
Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Constriction... |
OMIM:615973 |
X-Linked Immunoneurologic Disorder |
|
Nyctalopia, Cataract |
ORPHA:2571 |
Narp Syndrome |
|
Optic disc pallor, Abnormal visual field test, Blindness, Constriction of peripheral visual field... |
ORPHA:644 |
Night Blindness, Congenital Stationary, Type 1F |
|
Retinal perforation, Nyctalopia, Reduced visual acuity, High myopia, Congenital stationary night ... |
OMIM:615058 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... |
ORPHA:293964 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormality of retinal pigmentation, Myopia, Abnormal retinal vascular morphology, Nyctalopia, He... |
ORPHA:1390 |
Usher Syndrome, Type Iid |
|
Nyctalopia, Rod-cone dystrophy |
OMIM:611383 |
Diarrhea 13 |
|
Recurrent hypoglycemia, Failure to thrive, Secretory diarrhea, Vomiting |
OMIM:620357 |
Cone-Rod Dystrophy 8 |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Blindness, Nyctalopia, Peripheral v... |
OMIM:605549 |
Achromatopsia 2 |
|
Hypoplasia of the fovea, Retinal thinning, Nyctalopia, Myopic astigmatism, Absent foveal reflex, ... |
OMIM:216900 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Retinopathy, Blindness, Optic atrophy, Dysphagia |
ORPHA:216873 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Reduced visual acuity, Photophobia, Peripapillary atrophy, H... |
OMIM:617879 |
Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment, Cataract |
OMIM:147610 |
Retinitis Pigmentosa 75 |
|
Myopia, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Rod-co... |
OMIM:617023 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Excessive insulin response to glucagon test, Large for gestational age, Hyperinsulinemia, Hypogly... |
ORPHA:276575 |
Cataract 47 |
|
Microcornea, Cataract, Glycosuria |
OMIM:612018 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, High myopia, Iris transillumination defect, Ectopia... |
OMIM:225200 |
Cataract 17, Multiple Types |
|
Amblyopia, Reduced visual acuity, Pulverulent cataract, Developmental cataract, Microcornea, Nucl... |
OMIM:611544 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Nyctalopia, Pigmentary retinopathy |
OMIM:179840 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia, Bicornuate uterus, Cryptorchidism |
OMIM:615524 |
Uveal Melanoma |
|
Retinal detachment, Metamorphopsia, Photopsia, Iris melanoma, Visual loss, Inferior lens subluxat... |
ORPHA:39044 |
Canavan Disease |
|
Abnormality of retinal pigmentation, Blindness, Flexion contracture, Optic atrophy, Gastroesophag... |
ORPHA:141 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Inguinal hernia, Cataract, Small for gestational age, Decreased body weight |
OMIM:618392 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:620102 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Moderate myopia, Cataract, Ectopia lentis, Reduced visual acuity, Spherophakia, Hig... |
OMIM:601552 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,... |
OMIM:262190 |
Myopathy, Tubular Aggregate, 1 |
|
Joint contracture, Nyctalopia, Flexion contracture, Abnormal pupil morphology |
OMIM:160565 |
Enhanced S-Cone Syndrome |
|
Cataract, Nyctalopia, Macular edema, Hemeralopia, Pigmentary retinopathy, Vitreoretinopathy, Reti... |
OMIM:268100 |
Retinitis Pigmentosa 96 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal thinnin... |
OMIM:620228 |
Leber Congenital Amaurosis 7 |
|
Photophobia, Keratoconus, Cataract, Visual impairment |
OMIM:613829 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Uraciluria, Optic atrophy |
OMIM:274270 |
Migraine, Familial Hemiplegic, 3 |
|
Photophobia, Blindness |
OMIM:609634 |
Peroxisome Biogenesis Disorder 9B |
|
Cataract, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Rod-cone dy... |
OMIM:614879 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Lipoatrophy, Insulin resistance, Diabetes mellitus, Hyperinsulinemia |
ORPHA:79084 |
Leukodystrophy, Hypomyelinating, 14 |
|
Blindness |
OMIM:617899 |
Optic Atrophy 1 |
|
Central scotoma, Red-green dyschromatopsia, Optic atrophy, Reduced visual acuity, Centrocecal sco... |
OMIM:165500 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Reduced visual ... |
ORPHA:2334 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen... |
OMIM:177650 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Bestrophinopathy, Autosomal Recessive |
|
Hypermetropia, Retinal pigment epithelial atrophy, Reduced visual acuity, Retinal flecks |
OMIM:611809 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Blindness, Cataract, Gastroesophageal reflux, Constipation |
ORPHA:3137 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... |
OMIM:612095 |
Mmep Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:3434 |
Stiff Skin Syndrome |
|
Myopia, Cataract, Lipodystrophy, Elbow flexion contracture, Knee flexion contracture, Gastroesoph... |
OMIM:184900 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Obesity, Increased resting energy expenditure |
ORPHA:369873 |
Retinal Cone Dystrophy 4 |
|
Cone/cone-rod dystrophy, Constriction of peripheral visual field, Retinal pigment epithelial mott... |
OMIM:610478 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia, Hypogonadism |
ORPHA:2528 |
Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Reduced visual acuity, Opacification of the corneal stroma |
OMIM:217400 |
Usher Syndrome Type 2 |
|
Myopia, Cataract, Scotoma, Abnormal dental enamel morphology, Visual loss, Nyctalopia, Hemianopia... |
ORPHA:231178 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Failure to thrive, Cataract |
ORPHA:2278 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:604367 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Obesity |
ORPHA:329249 |
Usher Syndrome, Type 1M |
|
Drusen, Optic disc pallor, Nyctalopia |
OMIM:618632 |
Fuchs Endothelial Corneal Dystrophy |
|
Corneal opacity, Visual loss, Nyctalopia, Abnormal Descemet membrane morphology, Abnormal corneal... |
ORPHA:98974 |
Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia, Deuteranopia, Amblyopia, High myopia... |
OMIM:300843 |
Cone-Rod Dystrophy 18 |
|
Cone/cone-rod dystrophy, Central scotoma, Reduced visual acuity, High myopia, Foveal hyperpigment... |
OMIM:615374 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Corneal Dystrophy, Meesmann, 1 |
|
Photophobia, Corneal dystrophy, Punctate opacification of the cornea, Reduced visual acuity |
OMIM:122100 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... |
OMIM:613617 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Flexion contracture, Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior syn... |
OMIM:613154 |
Bardet-Biedl Syndrome 1 |
|
Myopia, Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Diabetes mellitus, ... |
OMIM:209900 |
Hsd10 Disease, Infantile Type |
|
Blindness, Hypoglycemia, Visual loss, Optic atrophy, Dysphagia, Rod-cone dystrophy, Retinal degen... |
ORPHA:391428 |
Bardet-Biedl Syndrome 3 |
|
Nyctalopia, Obesity, Pigmentary retinopathy, Rod-cone dystrophy, Visual impairment |
OMIM:600151 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Progressive visual loss, Visual... |
ORPHA:3156 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Nyctalopia, Bitot spots of the conjunctiva |
OMIM:277350 |
Oculocutaneous Albinism Type 1 |
|
Hypoplasia of the fovea, Amblyopia, Blue irides, Reduced visual acuity, Depigmented fundus, Photo... |
ORPHA:352731 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Retinal detachment, Blindness, Corneal dystrophy, Abnormal retinal v... |
ORPHA:3205 |
Cataract 2, Multiple Types |
|
Amblyopia, Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Photophobia... |
OMIM:604307 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Myopia, Flat cornea, Macular atrophy, Optic disc coloboma, Reduced visual acuity, Microcornea, Sh... |
OMIM:602499 |
Usher Syndrome |
|
Abnormality of retinal pigmentation, Blindness, Myopia, Cataract, Abnormal dental enamel morpholo... |
ORPHA:886 |
Cach Syndrome |
|
Blindness, Cataract, Flexion contracture, Optic atrophy, Optic neuritis, Vomiting, Dysphagia, Art... |
ORPHA:135 |
Cataract 48 |
|
Cataract, Reduced visual acuity, Amblyopia |
OMIM:618415 |
Laurence-Moon Syndrome |
|
Type II diabetes mellitus, Cataract, Iris coloboma, Obesity |
ORPHA:2377 |
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
High hypermetropia, Inguinal hernia, Cataract, Umbilical hernia |
ORPHA:1373 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract, High myopia |
OMIM:619781 |
Martsolf Syndrome 2 |
|
Cataract, Hypogonadotropic hypogonadism, Camptodactyly of finger, Developmental cataract, Decreas... |
OMIM:619420 |
Non-Functioning Pituitary Adenoma |
|
Bitemporal hemianopia, Decreased response to growth hormone stimulation test, Reduced circulating... |
ORPHA:91349 |
Isolated Aniridia |
|
Cataract, Visual loss, Peters anomaly, Aniridia, Aplasia/Hypoplasia of the macula |
ORPHA:250923 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Optic disc pallor, Ectopic kidney, Cryptorchidism, Microphthalmia, Cystic renal dysplasia |
OMIM:613730 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Constriction of peripheral visual field, Cataract, Hypergonadotropic hypogonadism, Pigmentary ret... |
OMIM:614307 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Failure to thrive, Cataract, Hypoglycemia, Dysphagia |
OMIM:618958 |
Night Blindness, Congenital Stationary, Type 1H |
|
Hypermetropia, Photophobia, Nyctalopia, Mild myopia |
OMIM:617024 |
Idiopathic Uveal Effusion Syndrome |
|
Metamorphopsia, Abnormal anterior eye segment morphology, Reduced visual acuity, Subretinal fluid... |
ORPHA:209956 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Pe... |
OMIM:613756 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Amblyopia, Optic disc coloboma |
ORPHA:35737 |
Immunoneurologic Disorder, X-Linked |
|
Nyctalopia, Small for gestational age |
OMIM:300076 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Constriction of peripheral visual field, Cataract, Female... |
OMIM:240300 |
Stickler Syndrome, Type V |
|
Cataract, Retinal detachment, Vitreoretinopathy, High myopia |
OMIM:614284 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Cataract, Diabetes mellitus, Moderately reduced visual acuity, Morning glory anomaly, Central sco... |
ORPHA:98673 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Impaired glucose tolerance, Nyctalopia, Obesity, Glucose intolerance, Retinal degeneration |
OMIM:615630 |
X-Linked Recessive Ocular Albinism |
|
Hypoplasia of the fovea, Myopia, Abnormal pupil morphology, Ocular albinism, Photophobia, Astigma... |
ORPHA:54 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Delayed puberty, Hyperinsulinemic hy... |
OMIM:616033 |
Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal optic disc morphology, Sever... |
ORPHA:65 |
Erythrokeratodermia Variabilis |
|
Diabetes mellitus, Cataract, Corneal opacity, Weight loss |
ORPHA:317 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Blindness, Myopia, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormali... |
ORPHA:370959 |
Albinism, Oculocutaneous, Type Ii |
|
Hypoplasia of the fovea, Myopia, Blue irides, Reduced visual acuity, Hypopigmentation of the fund... |
OMIM:203200 |
Krabbe Disease |
|
Blindness, Failure to thrive, Optic atrophy, Vomiting |
OMIM:245200 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Type I diabetes mellitus, Failure to thrive, Cataract, Gastroesophageal reflux |
ORPHA:251009 |
Hemochromatosis, Type 4 |
|
Diabetes mellitus, Cataract, Impaired glucose tolerance, Glucose intolerance |
OMIM:606069 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Constriction of peripheral visual field, Patchy atrophy of the retinal pigment epithelium, Progre... |
ORPHA:436245 |
Short Syndrome |
|
Posterior embryotoxon, Diabetes mellitus, Corneal opacity, Abnormal dental enamel morphology, Ing... |
ORPHA:3163 |
Autosomal Recessive Stickler Syndrome |
|
Retinal detachment, Myopia, Cataract, Amblyopia, Vitreoretinopathy, Astigmatism |
ORPHA:250984 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascularization, Nongran... |
ORPHA:91500 |
Night Blindness, Congenital Stationary, Type1I |
|
Tritanomaly, Nyctalopia |
OMIM:618555 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Cataract, Flexion contracture of finger, Bowel incontine... |
ORPHA:88628 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia |
ORPHA:35878 |
Cone-Rod Dystrophy 10 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Photophobia, M... |
OMIM:610283 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Peripheral v... |
OMIM:268315 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, T... |
ORPHA:290 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity |
OMIM:618406 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Microphthalmia |
OMIM:120433 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
Leber Congenital Amaurosis 3 |
|
Visual loss, Nyctalopia, Constriction of peripheral visual field |
OMIM:604232 |
Short Syndrome |
|
Myopia, Rieger anomaly, Cataract, Small for gestational age, Inguinal hernia, Lipodystrophy, Lipo... |
OMIM:269880 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cataract, Obesity, Hypogonadism, Retinal coloboma, Rod-cone dystrophy |
OMIM:601794 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Blindness, Opacification of the corneal stroma |
OMIM:204850 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Optic disc pallor, Constriction of peripheral visual field, Central scotoma, Optic atrophy, Reduc... |
OMIM:612989 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Blindness, Weight loss, Pigmentary retinopathy, Dysphagia, Rod-cone dystrophy |
ORPHA:216866 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Reduced visual acuity, Retinal coloboma, Lens subluxation, Iris co... |
OMIM:216820 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent hypoglycemia, ... |
ORPHA:276556 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, Obesity, Hypogonadism, Retinal coloboma, Rod-cone dystrophy |
ORPHA:363741 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Myopia, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lac... |
OMIM:152950 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Blindness, Visual loss, Optic atrophy, Progressive visual loss, Dysphagia, Visual impairment |
OMIM:601338 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulating hormone co... |
OMIM:617872 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... |
OMIM:619326 |
Retinitis Pigmentosa 93 |
|
Rod-cone dystrophy, Constriction of peripheral visual field, Retinal dots, Reduced visual acuity |
OMIM:619845 |
Tenorio Syndrome |
|
Hypoglycemia, Keratoconjunctivitis sicca, Gastroesophageal reflux, Recurrent aphthous stomatitis,... |
OMIM:616260 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia, Obesity |
OMIM:620195 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Large central visual field defect, Blindness, Visual loss, Pigmentary retinopa... |
ORPHA:79264 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Cataract, Decreased response to growth hormone stimulation test, Developmental cataract, Fasting ... |
ORPHA:436174 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Microcornea, Anterior synechiae of the anterior chamber, High hypermetropia, Iris coloboma, Iris ... |
ORPHA:3214 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Decreased circulating progesterone, Blindness, Primary gonadal insufficiency, Optic atrophy |
OMIM:603896 |
Cofs Syndrome |
|
Hypogonadism, Microphthalmia, Optic atrophy |
ORPHA:1466 |
Ophthalmomandibulomelic Dysplasia |
|
Blindness, Corneal opacity, Camptodactyly of finger, Megalocornea |
ORPHA:2741 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia, Optic atrophy, Optic disc pallor |
OMIM:616171 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation, Nyctalopia, Diabetes mellitus, Visual impairment |
ORPHA:96 |
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Hyperopic astigmatism, Reduced visual acuity, Visual impairment, Obesity |
OMIM:606772 |
Pierson Syndrome |
|
Retinal detachment, Blindness, Rieger anomaly, Remnants of the hyaloid vascular system, Cataract,... |
OMIM:609049 |
Cohen Syndrome |
|
Myopia, Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Small for gestational a... |
OMIM:216550 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Blindness, Reduced visual acuity, Abnormal optic disc morphology, Vitreoretinopathy, Retinal vasc... |
ORPHA:440727 |
X-Linked Intellectual Disability, Najm Type |
|
Myopia, Cataract, Optic nerve hypoplasia, Optic atrophy, Chorioretinal coloboma, Failure to thriv... |
ORPHA:163937 |
Isolated Atp Synthase Deficiency |
|
Blindness, Cataract, Optic atrophy, Hypogonadism, Rod-cone dystrophy, Hypothyroidism |
ORPHA:254913 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Optic atrophy |
ORPHA:1528 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... |
OMIM:612965 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... |
OMIM:602482 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Constriction of peripheral visual field, Reduced visual acuity, Obesity, Pigme... |
OMIM:616562 |
Retinitis Pigmentosa 89 |
|
Constriction of peripheral visual field, Retinal thinning, Nyctalopia, Hyperautofluorescent retin... |
OMIM:618955 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Moderately reduced visual acuity, Retinal coloboma, Chorioretinal coloboma, Severely reduced visu... |
ORPHA:2921 |
Amoebic Keratitis |
|
Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor... |
ORPHA:67043 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Diarrhea, Hyperinsulinemia, Increased body weight, Glycosuria, Vomitin... |
ORPHA:263455 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... |
OMIM:212550 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos, Horseshoe kidney |
OMIM:619318 |
Edict Syndrome |
|
Keratoconus, Reduced visual acuity, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior po... |
OMIM:614303 |
Wagr Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Obesity, Visual impairment |
ORPHA:893 |
Isolated Complex I Deficiency |
|
Optic disc pallor, Blindness, Diabetes mellitus, Hypoglycemia, Optic neuropathy, Vomiting, Failur... |
ORPHA:2609 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Nyctalopia, Diarrhea, Optic atrophy, Visual field defect, Pigmentary retinopathy, Decreased body ... |
ORPHA:96180 |
Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Blurred vision, Reduced vis... |
ORPHA:98963 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Blindness, Cataract, Dysphagia, Achalasia |
ORPHA:79107 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia, Abnormal external genitalia |
ORPHA:3469 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Blindness, Cataract, Central scotoma, Optic atrophy, Failure to thrive, Visual impairment |
ORPHA:543470 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Myopia, Cataract, Retinal thinning, Asteroid hyalosis |
OMIM:132450 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Visual loss, Blindness, Progressive visual field defects, Dysphagia |
ORPHA:79263 |
Isolated Succinate-Coq Reductase Deficiency |
|
Blindness, Reduced visual acuity, Knee flexion contracture, Weight loss, Pigmentary retinopathy |
ORPHA:3208 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Blindness, Failure to thrive |
OMIM:250940 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Nyctalopia, Failure to thrive |
ORPHA:79301 |
Xfe Progeroid Syndrome |
|
Blindness, Cachexia, Absence of subcutaneous fat, Optic atrophy, Corneal scarring, Enamel hypopla... |
OMIM:610965 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Retinal detachment, Macular coloboma, Sclerocornea, Reduced visual acuity, Microcornea, Ocular an... |
OMIM:615145 |
Blue Diaper Syndrome |
|
Diarrhea, Elevated circulating thyroid-stimulating hormone concentration, Increased body weight, ... |
ORPHA:94086 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Myopia, Ectopia lentis, Deep anterior chamber, Microspherophakia, Hypermetropia, Bu... |
OMIM:251750 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin |
OMIM:617885 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Microphtha... |
OMIM:617914 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Blindness, Cataract, Corneal dystrophy, Sclerocornea, Abnormality of vision, Microcornea, Keratoc... |
ORPHA:1806 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Inguinal hernia, Corneal dystrophy, Reduced visual acuity, Ectopia pupillae, Corneal... |
OMIM:609141 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Cataract, Hematochezia, Pigmentary retinopathy, Hypogonadism, Type II diabetes mellitus, Homonymo... |
ORPHA:79095 |
Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... |
ORPHA:96125 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Blindness, Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Anterior cortica... |
ORPHA:67036 |
Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
White-Sutton Syndrome |
|
Ventral hernia, Myopia, Blindness, Inguinal hernia, Congenital diaphragmatic hernia, Optic atroph... |
ORPHA:468678 |
Oculocutaneous Albinism Type 5 |
|
Hypoplasia of the fovea, Ocular albinism, Reduced visual acuity, Abnormal fundus morphology, Phot... |
ORPHA:370091 |
Ophthalmomandibulomelic Dysplasia |
|
Blindness, Opacification of the corneal stroma, Megalocornea |
OMIM:164900 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia |
OMIM:615297 |
Spinocerebellar Ataxia Type 7 |
|
Cone/cone-rod dystrophy, Blindness, Visual loss, Reduced visual acuity, Abnormal fundus morpholog... |
ORPHA:94147 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Stickler Syndrome Type 1 |
|
Retinal detachment, Myopia, Cataract, Visual loss, Abnormal vitreous humor morphology |
ORPHA:90653 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Cataract, Nyctalopia, Abnormality of vision, Progressive vis... |
ORPHA:773 |
Norrie Disease |
|
Retinal detachment, Blindness, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology,... |
ORPHA:649 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Blindness, Vomiting |
OMIM:618225 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Polycystic kidney dysplasia, Ambiguous genitalia, Microphthalmia, Enlarged kidney |
OMIM:613885 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal opacity, Corneal dystrophy, Corneal erosion, Reduced visual acuity, Photophobia, Opacific... |
OMIM:608470 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Stickler Syndrome, Type I |
|
Retinal detachment, Myopia, Blindness, Cataract, Vitreoretinopathy, Membranous vitreous appearanc... |
OMIM:108300 |
Warburg Micro Syndrome 1 |
|
Microphthalmia, Optic atrophy, External genital hypoplasia, Cryptorchidism |
OMIM:600118 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Aniridia 3 |
|
Aniridia, Cataract, Reduced visual acuity |
OMIM:617142 |
Albinism, Oculocutaneous, Type Vii |
|
Photophobia, High hypermetropia, Iris transillumination defect, Reduced visual acuity |
OMIM:615179 |
Retinitis Pigmentosa 45 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Macular degene... |
OMIM:613767 |
Refsum Disease, Classic |
|
Nyctalopia, Rod-cone dystrophy, Retinal degeneration, Cataract |
OMIM:266500 |
Isolated Ectopia Lentis |
|
Cataract, Ectopia lentis, Amblyopia, Ectopia pupillae, Visual impairment |
ORPHA:1885 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Macular degeneration, Blindness, Abnormality of macular pigmentation |
ORPHA:1573 |
Prolactinoma |
|
Bitemporal hemianopia, Vomiting, Male hypogonadism, Hypogonadotropic hypogonadism, Hemianopia, De... |
ORPHA:2965 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Large for gestational age, Abnormal response t... |
ORPHA:79644 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Joubert Syndrome With Oculorenal Defect |
|
Blindness, Retinal dystrophy, Chorioretinal coloboma, Abnormality of the hypothalamus-pituitary a... |
ORPHA:2318 |
Cone-Rod Dystrophy 19 |
|
Cone/cone-rod dystrophy, Perifoveal ring of hyperautofluorescence, Reduced visual acuity, High my... |
OMIM:615860 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... |
OMIM:273250 |
Albinism, Ocular, Type I |
|
Hypoplasia of the fovea, Ocular albinism, Reduced visual acuity, Depigmented fundus, Photophobia |
OMIM:300500 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Myopia, Blindness, Visual loss, Reduced visual acuity, Astigmatism, Retinal degeneration |
ORPHA:168491 |
Microphthalmia-Brain Atrophy Syndrome |
|
Blindness, Vomiting |
ORPHA:77299 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Central opacification of the cornea, Abnormal corneal epithelium... |
ORPHA:98962 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Hypogonadotropic hypogonadism, Abnormality of peripheral nerve conduction |
ORPHA:48431 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Reduced visual acuity, Hypermetropia, Corneal arcus, ... |
OMIM:217300 |
X-Linked Endothelial Corneal Dystrophy |
|
Corneal opacity, Band keratopathy, Abnormal corneal endothelium morphology, Reduced visual acuity... |
ORPHA:293621 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... |
ORPHA:168563 |
Gm1 Gangliosidosis |
|
Blindness, Inguinal hernia, Corneal opacity, Camptodactyly of finger, Abnormal retinal vascular m... |
ORPHA:354 |
Congenital Tufting Enteropathy |
|
Cataract, Corneal erosion, Optic disc coloboma, Secretory diarrhea, Chronic diarrhea, Weight loss... |
ORPHA:92050 |
Night Blindness, Congenital Stationary, Type 1E |
|
Congenital stationary night blindness, Reduced visual acuity, Visual impairment, High myopia |
OMIM:614565 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Hypoplasia of penis, Hydroureter |
ORPHA:2547 |
Nance-Horan Syndrome |
|
Retinal detachment, Cataract, Visual loss, Microcornea, Visual impairment |
ORPHA:627 |
Pituitary Apoplexy |
|
Bitemporal hemianopia, Hypoglycemia, Mydriasis, Abnormal static automated perimetry test, Decreas... |
ORPHA:95613 |
Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Abnormal circulating leptin concentration, Insulin resistance, Fastin... |
ORPHA:2298 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Gastroesophageal reflux, Blindness, Flexion contracture, Small for gestational age |
ORPHA:79243 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Myopia, Corneal dystrophy, Nyctalopia, High myopia, Rod-cone dystrophy, Hypothyroidism |
OMIM:617763 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Reduced visual acuity, Corne... |
OMIM:613270 |
Pellagra-Like Syndrome |
|
Diplopia, Cataract |
OMIM:260650 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Blindness, Failure to thrive |
OMIM:236270 |
X-Linked Acrogigantism |
|
Abnormal optic chiasm morphology, Increased body mass index, Decreased thyroid-stimulating hormon... |
ORPHA:300373 |
Bardet-Biedl Syndrome 20 |
|
Papilledema, Constriction of peripheral visual field, Nyctalopia, Obesity, Hypermetropia, Hemeral... |
OMIM:619471 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose... |
ORPHA:2457 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Macular atrophy, Posterior subcapsular cataract, Reduced visual acuity, Rod-co... |
OMIM:615434 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Cataract, Band keratopathy, Visual loss, Reduced visual acuity, Uveitis, Failure to thrive, Anter... |
ORPHA:85410 |
Wolfram Syndrome 1 |
|
Diabetes mellitus, Cataract, Diabetes insipidus, Optic atrophy, Pigmentary retinopathy, Dysphagia... |
OMIM:222300 |
Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Ocular albinism, Reduced visual acu... |
ORPHA:79435 |
Propionic Acidemia |
|
Constipation, Hypoglycemia |
ORPHA:35 |
Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
Cat-Eye Syndrome |
|
Microphthalmia, Hydronephrosis |
ORPHA:195 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Redu... |
ORPHA:171673 |
Matthew-Wood Syndrome |
|
Anophthalmia, Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Abnormality of the uterus, Vesi... |
ORPHA:2470 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Blindness, Inguinal hernia, Microcornea, Opacification of the corneal stroma, Umbilical hernia, A... |
OMIM:601499 |
Abetalipoproteinemia |
|
Abnormality of retinal pigmentation, Blindness, Failure to thrive, Scotoma, Nyctalopia, Chronic d... |
ORPHA:14 |
Rodrigues Blindness |
|
Microcornea, Blindness, Sclerocornea |
OMIM:268320 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Cataract, Adrenal hyperplasia, Primary adrenal insufficiency, Photophobia, Ab... |
ORPHA:3453 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Insulin resistance, H... |
ORPHA:363400 |
Cystinosis, Nephropathic |
|
Blindness, Diabetes mellitus, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Retinal pi... |
OMIM:219800 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hyperinsulinemic hypoglycemia, Failure to thrive... |
ORPHA:79319 |
Bresek Syndrome |
|
Aganglionic megacolon, Optic nerve hypoplasia, Cryptorchidism, Renal hypoplasia, Vesicoureteral r... |
ORPHA:85284 |
Sarcosinemia |
|
Congenital blindness, Optic atrophy |
ORPHA:3129 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Myopia, Retinal dystrophy, Chorioretinal... |
ORPHA:2526 |
Aica-Ribosuria Due To Atic Deficiency |
|
Congenital blindness, Optic atrophy, Hypoglycemia |
OMIM:608688 |
Hermansky-Pudlak Syndrome 1 |
|
Blindness, Ocular albinism, Photophobia, Hematochezia, Inflammation of the large intestine, Colit... |
OMIM:203300 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia, Cryptorchidism |
OMIM:164180 |
Tsh-Secreting Pituitary Adenoma |
|
Bitemporal hemianopia, Abnormal visual field test, Elevated circulating thyroid-stimulating hormo... |
ORPHA:91347 |
Microphthalmia With Brain And Digit Anomalies |
|
Myopia, Cataract, Retinal dystrophy, Sclerocornea, Microcornea, Chorioretinal coloboma, Abnormali... |
ORPHA:139471 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Myopia, Retinal atrophy, Blindness, Optic nerve hypoplasia, Corneal opacity, ... |
OMIM:236670 |
Joubert Syndrome 9 |
|
Cataract, Retinal dystrophy, Astigmatism, Cerebral visual impairment |
OMIM:612285 |
Full Nf2-Related Schwannomatosis |
|
Blindness, Remnants of the hyaloid vascular system, Amblyopia, Retinal hamartoma, Epiretinal memb... |
ORPHA:637 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Increased circulating ACT... |
OMIM:614736 |
Pierpont Syndrome |
|
Microphthalmia, Micropenis, Cryptorchidism |
OMIM:602342 |
Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level |
OMIM:240950 |
Trisomy 13 |
|
Anophthalmia, Displacement of the urethral meatus, Cryptorchidism, Abnormality of the ureter, Opt... |
ORPHA:3378 |
Premature Aging Syndrome, Okamoto Type |
|
Diabetes mellitus, Cataract |
OMIM:601811 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Blindness, Cataract, Optic atrophy, High myopia |
OMIM:220500 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:151660 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Small for gestational age, Contractures of the large joints, Blindness, Optic atrophy |
ORPHA:3078 |
Alpers-Huttenlocher Syndrome |
|
Abnormality of vision, Blindness |
ORPHA:726 |
Mucoepithelial Dysplasia, Hereditary |
|
Blindness, Cataract, Chronic diarrhea, Keratoconjunctivitis, Photophobia, Melena, Opacification o... |
OMIM:158310 |
Seckel Syndrome 2 |
|
Microphthalmia, Hypospadias, Ectopic kidney |
OMIM:606744 |
Donohue Syndrome |
|
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fas... |
OMIM:246200 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia, Hypogonadotropic hypogonadism |
ORPHA:1135 |
Pierpont Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:487825 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Cataract, Small for gestational age, Multiple joint contractures, Lack of facial subcutaneous fat... |
ORPHA:2959 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
Woolly Hair |
|
Abnormal pupil morphology, Cataract, Abnormal retinal morphology |
ORPHA:170 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Atypical scarring of skin, Cataract, Visual impairment |
ORPHA:1366 |
Pituitary Stalk Interruption Syndrome |
|
Septo-optic dysplasia, Ectopic posterior pituitary, Hypoglycemia, Adrenal hypoplasia, Hypothyroid... |
ORPHA:95496 |
Congenital Generalized Lipodystrophy |
|
Diabetes mellitus, Lipodystrophy, Precocious puberty in females, Adipose tissue loss, Insulin res... |
ORPHA:528 |
Infantile Krabbe Disease |
|
Blindness, Cachexia, Visual loss, Optic atrophy, Photophobia, Vomiting, Gastroesophageal reflux, ... |
ORPHA:206436 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Nyctalopia, Flexion contracture, Optic atrophy |
ORPHA:99947 |
Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Central opacification of the cornea, Reduced visual acuity, Phot... |
ORPHA:98957 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Blindness, Keratitis, Elbow flexion contracture, Corneal scarring, Knee flexion contracture, Phot... |
OMIM:148210 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia, Cryptorchidism |
OMIM:601349 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Keratoconus 9 |
|
Keratoconus, Reduced visual acuity, Decreased corneal thickness |
OMIM:617928 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
Lissencephaly 8 |
|
Microphthalmia, Optic atrophy |
OMIM:617255 |
Hermansky-Pudlak Syndrome 8 |
|
Hypoplasia of the fovea, Optic disc pallor, Myopia, Myopic astigmatism, Moderate hypermetropia, O... |
OMIM:614077 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Diarrhea, Fasting hyperinsulinemia, Hypoglycemic seizures, Pigmentary retinopathy, Vomiting, Hype... |
ORPHA:71212 |
Proteus-Like Syndrome |
|
Retinal detachment, Myopia, Cataract, Thymus hyperplasia, Abnormal pupil morphology, Abnormality ... |
ORPHA:2969 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Blindness, Cataract, Inguinal hernia, Amblyopia, Visual loss, Hypogonadism, Iris coloboma |
ORPHA:2250 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia, Micropenis |
OMIM:308350 |
Progeroid Short Stature With Pigmented Nevi |
|
Cataract, Small for gestational age, Diabetes mellitus, Lack of facial subcutaneous fat, Visual l... |
OMIM:176690 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... |
OMIM:608612 |
Non-24-Hour Sleep-Wake Syndrome |
|
Blindness, Abnormal pineal melatonin secretion |
ORPHA:73267 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia, Facial palsy |
OMIM:613155 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... |
OMIM:120200 |
Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the fal... |
OMIM:158330 |
Microphthalmia, Syndromic 5 |
|
Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia, Micropenis |
OMIM:610125 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proteinuria, Septate vagina, Chronic kidney disease, Proximal renal tubular acidosis, Uterus dide... |
OMIM:146255 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Blindness, Bull's eye maculopathy, Nyctalopia, Optic atrophy, Peripheral visual field loss, Visua... |
ORPHA:157850 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... |
ORPHA:90797 |
Perlman Syndrome |
|
Femoral hernia, Hyperinsulinemia, Inguinal hernia |
ORPHA:2849 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy, Hypermetropia |
OMIM:612868 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia |
ORPHA:324416 |
Adrenoleukodystrophy |
|
Blindness, Bowel incontinence, Visual loss, Primary adrenal insufficiency, Hypogonadism |
OMIM:300100 |
Canavan Disease |
|
Blindness, Optic atrophy, Visual impairment |
OMIM:271900 |
Mucopolysaccharidosis Type 3 |
|
Myopia, Blindness, Constriction of peripheral visual field, Cataract, Corneal opacity, Inguinal h... |
ORPHA:581 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
Joubert Syndrome 22 |
|
Microphthalmia, Renal hypoplasia |
OMIM:615665 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Optic disc pallor |
OMIM:300887 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Blindness |
OMIM:614514 |
Lowry-Wood Syndrome |
|
Small for gestational age, Nyctalopia, Elbow flexion contracture, Peripheral visual field loss, P... |
OMIM:226960 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ambiguous genitalia, Microphthalmia |
ORPHA:93267 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Myopia, Retinal atrophy, Retinal pigment epithelial atrophy, Ring scotoma, Epi... |
OMIM:616959 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Blindness |
OMIM:618731 |
Renal And Mullerian Duct Hypoplasia |
|
Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele testis, Aplas... |
OMIM:266810 |
Cinca Syndrome |
|
Blindness, Retrobulbar optic neuritis, Uveitis, Pseudopapilledema, Visual impairment |
ORPHA:1451 |
Infantile Neuroaxonal Dystrophy |
|
Blindness, Flexion contracture, Optic atrophy, Constipation |
ORPHA:35069 |
Night Blindness, Congenital Stationary, Type 1B |
|
Myopia, Bone spicule pigmentation of the retina, Nyctalopia, Hemeralopia, Congenital stationary n... |
OMIM:257270 |
Weill-Marchesani Syndrome 2 |
|
Iridodonesis, Blindness, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Elbow flexio... |
OMIM:608328 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... |
OMIM:613986 |
Warburg Micro Syndrome 4 |
|
Decreased motor nerve conduction velocity, Small scrotum, Cryptorchidism, Optic atrophy, Micropht... |
OMIM:615663 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae, Reduced visual acuity |
OMIM:618031 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Vogt-Koyanagi-Harada Disease |
|
Retinal detachment, Cataract, Visual impairment |
ORPHA:3437 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Micropenis, Small scrotum |
OMIM:610756 |
Mccune-Albright Syndrome |
|
Hyperparathyroidism, Blindness, Hyperthyroidism, Elevated circulating growth hormone concentratio... |
OMIM:174800 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Albers-Schönberg Osteopetrosis |
|
Blindness, Optic atrophy, Visual impairment |
ORPHA:53 |
Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Cataract, Smal... |
OMIM:606721 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Diarrhea, Steatorrhea, Vomiting, Hyperinsulinemic hypoglycemia, Failure to thrive |
OMIM:602579 |
Xq21 Microdeletion Syndrome |
|
Abnormal chorioretinal morphology, Decreased response to growth hormone stimulation test, Chorior... |
ORPHA:1435 |
Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ... |
ORPHA:99429 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Constriction of peripheral visual field, Failure to thrive in infancy, Macular atrophy, Hypoglyce... |
OMIM:619418 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Osteopetrosis, Autosomal Recessive 8 |
|
Facial palsy, Optic atrophy, Unilateral microphthalmos |
OMIM:615085 |
Osteopetrosis, Autosomal Recessive 1 |
|
Blindness, Failure to thrive, Optic atrophy, Visual impairment |
OMIM:259700 |
Joubert Syndrome 37 |
|
Cryptorchidism, Hydronephrosis, Microphthalmia, Micropenis, Decreased testicular size |
OMIM:619185 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
Late-Infantile/Juvenile Krabbe Disease |
|
Visual loss, Blindness, Neuromuscular dysphagia, Visual impairment |
ORPHA:206443 |
Momo Syndrome |
|
Blindness, Large for gestational age, Abnormality of the thyroid gland, Obesity, Chorioretinal co... |
ORPHA:2563 |
Meningioma |
|
Bitemporal hemianopia, Decreased circulating cortisol level, Reduced circulating prolactin concen... |
ORPHA:2495 |
Albinism, Oculocutaneous, Type Ia |
|
Hypoplasia of the fovea, Myopia, Ocular albinism, Reduced visual acuity, Blue irides, Photophobia... |
OMIM:203100 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Blindness |
OMIM:271250 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... |
ORPHA:325124 |
Cancer-Associated Retinopathy |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Constriction of periphera... |
ORPHA:71505 |
Donnai-Barrow Syndrome |
|
Omphalocele, Retinal detachment, Cataract, Retinal dystrophy, Congenital diaphragmatic hernia, Hi... |
OMIM:222448 |
Webb-Dattani Syndrome |
|
Blindness, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, ... |
OMIM:615926 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Cataract, Hyperthyroidism, Band keratopathy, Primary adrenal insufficiency, Thymoma, Keratoconjun... |
OMIM:269200 |
Osteoporosis-Pseudoglioma Syndrome |
|
Iris atrophy, Blindness, Cataract, Retinal calcification, Exudative retinopathy, Vitreoretinopath... |
OMIM:259770 |
Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Blue irides, Reduced visual acuity,... |
ORPHA:79432 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
Joubert Syndrome 6 |
|
Blindness, Retinal degeneration, Chorioretinal coloboma |
OMIM:610688 |
Joubert Syndrome 35 |
|
Nyctalopia, Rod-cone dystrophy, Progressive visual loss |
OMIM:618161 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Momo Syndrome |
|
Blindness, Retinal coloboma, Obesity |
OMIM:157980 |
Hydrolethalus |
|
Cryptorchidism, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology |
ORPHA:2189 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Myopia, Cataract, Abnormal dental enamel morphology, Amblyopia, Ocul... |
ORPHA:79430 |
Estrogen Resistance Syndrome |
|
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... |
ORPHA:785 |
Congenital Toxoplasmosis |
|
Microphthalmia |
ORPHA:858 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
OMIM:614841 |
Musk, Inability To Smell |
|
Blindness |
OMIM:254150 |
Weill-Marchesani Syndrome 1 |
|
Blindness, Cataract, Ectopia lentis, Microspherophakia, High myopia, Shallow anterior chamber |
OMIM:277600 |
Moebius Syndrome |
|
Hypogonadotropic hypogonadism, Facial diplegia, Microphthalmia, Micropenis, Decreased testicular ... |
OMIM:157900 |
Congenital Fibrinogen Deficiency |
|
Microphthalmia, Micropenis, Hemorrhagic ovarian cyst, Decreased testicular size |
ORPHA:335 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Diarrhea, Hyperinsulinemia, Vomiting, Blurred vision |
ORPHA:230 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... |
OMIM:615962 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia |
OMIM:619694 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Lipodystrophy, Insulin resistance, Ileus, Hyperinsulinemia, Flexion contracture, Constipation, Dy... |
OMIM:613327 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Multicystic kidney dysplasia, Cryptorchidism, Optic atrophy, Microphthalmi... |
ORPHA:3301 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Anophthalmia, Hypospadias, Cryptorchidism, Microphthalmia |
ORPHA:77298 |
Warburg Micro Syndrome 2 |
|
Small scrotum, Cryptorchidism, Optic atrophy, Hypoplastic labia majora, Microphthalmia, Micropenis |
OMIM:614225 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Blindness, Failure to thrive, Retinal dystrophy, Chorioretin... |
ORPHA:2556 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Small scrotum, Proteinuria, Cryptorchidism, Multiple bladder diverticula, Microphthalmia |
ORPHA:2728 |
Familial Renal Glucosuria |
|
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... |
ORPHA:69076 |
Warburg Micro Syndrome 3 |
|
Small scrotum, Hypoplastic labia minora, Optic atrophy, Microphthalmia, Micropenis, Decreased tes... |
OMIM:614222 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia |
OMIM:602501 |
Temtamy Syndrome |
|
Microphthalmia |
ORPHA:1777 |
Hermansky-Pudlak Syndrome 6 |
|
Amblyopia, Ocular albinism, Reduced visual acuity, Absent foveal reflex, Photophobia, Macular hyp... |
OMIM:614075 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Myopia, Cataract, Scarring alopecia of scalp, Optic atrophy, Reduced visual acuity, Ectopia pupil... |
OMIM:618727 |
Congenital Fibrosis Of Extraocular Muscles |
|
Abnormal visual field test, Cataract, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Ambl... |
ORPHA:45358 |
Rere-Related Neurodevelopmental Syndrome |
|
Hypospadias, Cryptorchidism, Optic atrophy, Vesicoureteral reflux, Microphthalmia |
ORPHA:494344 |
Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, D... |
OMIM:131100 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Micro Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minora, Optic atrophy, Clitoral hypoplasia... |
ORPHA:2510 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Inguinal hernia, Abnormality of the endocrine system, Nyctalopia, Visual field defect, Rod-cone d... |
ORPHA:166035 |
Werner Syndrome |
|
Diabetes mellitus, Cataract, Hypogonadism, Retinal degeneration |
OMIM:277700 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin concentration, ... |
ORPHA:91355 |
Cranioectodermal Dysplasia 4 |
|
Nyctalopia, Rod-cone dystrophy, Hypermetropia, Visual impairment |
OMIM:614378 |
Stickler Syndrome |
|
Retinal detachment, Blindness, Myopia, Cataract, Abnormal dental enamel morphology, Cachexia, Ect... |
ORPHA:828 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Optic disc pallor, Blindness, Hypoglycemia, Optic neuropathy, Vomiting, Failure to thrive |
OMIM:252010 |
Oculodentodigital Dysplasia |
|
Myopia, Cataract, Hypoglycemia, Abnormal dental enamel morphology, Camptodactyly of finger, Optic... |
ORPHA:2710 |
Lumbar Syndrome |
|
Bifid scrotum, Ambiguous genitalia, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia ... |
ORPHA:83628 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Ovarian carcinoma, Ovarian neoplasm |
OMIM:617883 |
Hermansky-Pudlak Syndrome 11 |
|
Hypoplasia of the fovea, Ocular albinism, Reduced visual acuity, Photophobia, Iris transilluminat... |
OMIM:619172 |
Hartsfield Syndrome |
|
Microphthalmia |
ORPHA:2117 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia, Aganglionic megacolon |
ORPHA:1438 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Impaired gluco... |
OMIM:248370 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Blindness, Decreased circulating cortisol level, Primary adrenal insufficiency, Reduced visual ac... |
ORPHA:139396 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Blindness, Retinal dystrophy |
ORPHA:713 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Microphthalmia, Hydronephrosis |
OMIM:618494 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Ketonuria, Renal hypoplasia |
OMIM:619053 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Methylmalonic aciduria, Elevated urinary aminoisobutyric ... |
OMIM:614105 |
Dermatoosteolysis, Kirghizian Type |
|
Keratitis, Nyctalopia |
ORPHA:1657 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia, Cryptorchidism |
OMIM:214150 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Horseshoe kidney, Aplasia of... |
ORPHA:3109 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia, Vaginal atresia |
OMIM:248450 |
Hec Syndrome |
|
Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract |
ORPHA:2119 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
Meckel Syndrome, Type 5 |
|
Microphthalmia, Renal cyst |
OMIM:611561 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia, Small scrotum, Hypogonadism, Cryptorchidism |
ORPHA:228390 |
Prader-Willi Syndrome |
|
Myopia, Failure to thrive in infancy, Hypogonadotropic hypogonadism, Decreased response to growth... |
OMIM:176270 |
Neurooculocardiogenitourinary Syndrome |
|
Bilateral cryptorchidism, Microphthalmia |
OMIM:618652 |
Amoebiasis Due To Free-Living Amoebae |
|
Blindness, Visual loss, Diplopia, Photophobia, Abnormality of the adrenal glands, Vomiting, Corne... |
ORPHA:68 |
Kapur-Toriello Syndrome |
|
Hypoplastic labia majora, Microphthalmia, Hypoplasia of penis |
ORPHA:2328 |
Papillorenal Syndrome |
|
Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary differentiation, Chr... |
OMIM:120330 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Keratoconus, Retinal detachment, Blindness, Myopia, Gastrointestinal hemorrhage, Inguinal hernia,... |
OMIM:225400 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Increased pineal volume, Impaired glucose tolerance, Precoci... |
ORPHA:769 |
Asparagine Synthetase Deficiency |
|
Blindness, Optic nerve hypoplasia, Cerebral visual impairment, Gastroesophageal reflux, Failure t... |
OMIM:615574 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia, Optic atrophy |
OMIM:614219 |
Knobloch Syndrome |
|
Retinal detachment, Myopia, Cataract, Ectopia lentis, Visual loss, Abnormal vitreous humor morpho... |
ORPHA:1571 |
Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Elevated circulating thyroid-stimulating hormone concent... |
OMIM:620185 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Inguinal hernia, Cataract |
ORPHA:1069 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia, Optic atrophy |
OMIM:612379 |
Hereditary Fructose Intolerance |
|
Cataract, Reactive hypoglycemia, Diarrhea, Constipation, Vomiting, Nausea |
ORPHA:469 |
Behçet Disease |
|
Gastrointestinal hemorrhage, Blindness, Cataract, Retrobulbar optic neuritis, Weight loss, Photop... |
ORPHA:117 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia |
OMIM:618805 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia |
OMIM:613153 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of... |
OMIM:264800 |
Sandhoff Disease |
|
Cherry red spot of the macula, Blindness, Chronic diarrhea |
OMIM:268800 |
Pituitary Carcinoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... |
ORPHA:300385 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Small scrotum, Hypospadias, Cryptorchidism, Abnormality of the scrotum, Microphthalmia |
ORPHA:2505 |
Corneodermatoosseous Syndrome |
|
Abnormal dental enamel morphology, Corneal dystrophy, Nyctalopia, Photophobia, Hemeralopia |
ORPHA:3194 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Microphthalmia |
OMIM:609053 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Blindness, Melena |
ORPHA:853 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Optic disc coloboma |
OMIM:169550 |
Frontonasal Dysplasia 1 |
|
Microphthalmia |
OMIM:136760 |
Baraitser-Winter Syndrome 1 |
|
Microphthalmia, Micropenis, Cryptorchidism |
OMIM:243310 |
Hermansky-Pudlak Syndrome 5 |
|
Hypoplasia of the fovea, Iris transillumination defect, Ocular albinism, Reduced visual acuity |
OMIM:614074 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Conjunctival telangiectasia, Blindness, Optic atrophy |
ORPHA:95433 |
Cogan Syndrome |
|
Blindness, Keratitis, Reduced visual acuity, Uveitis, Photophobia, Conjunctivitis |
ORPHA:1467 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Cataract, Dysphagia, Vomiting, Constipation, Anterior lenticonus, Failure to thrive, Lenticonus |
OMIM:308940 |
Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Optic nerve hypoplasia, Fle... |
OMIM:609069 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Blindness, Optic atrophy, Visual impairment |
ORPHA:1187 |
Mucopolysaccharidosis Type 2 |
|
Papilledema, Abnormality of retinal pigmentation, Large central visual field defect, Corneal opac... |
ORPHA:580 |
Tay-Sachs Disease |
|
Cherry red spot of the macula, Blindness |
OMIM:272800 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... |
ORPHA:226307 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Increased circulating AC... |
ORPHA:90790 |
Osteopetrosis, Autosomal Recessive 2 |
|
Blindness, Optic atrophy |
OMIM:259710 |
17Q12 Microduplication Syndrome |
|
Microphthalmia |
ORPHA:261272 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Abnormality of retinal pigmentation, Inguinal hernia, Corneal opacity, Camptodactyly... |
ORPHA:217085 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Myopia, Blindness, Flexion contracture, Optic atrophy, Constipation, Gastroesophageal reflux |
ORPHA:847 |
Gracile Bone Dysplasia |
|
Aniridia, Microphthalmia, Micropenis |
OMIM:602361 |
Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:85194 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Myopia, Corneal opacity, Amblyopia, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhage,... |
OMIM:175780 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Blindness, Knee flexion contracture |
OMIM:603387 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Papilledema, Abnormality of retinal pigmentation, Inguinal hernia, Corneal opacity, Camptodactyly... |
ORPHA:217093 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lens coloboma, Renal hypoplasia |
OMIM:618914 |
Tay-Sachs Disease |
|
Blindness, Precocious puberty, Optic atrophy, Dysphagia, Cherry red spot of the macula, Visual im... |
ORPHA:845 |
Walker-Warburg Syndrome |
|
Hypoplasia of penis, Anophthalmia, Cryptorchidism, Optic atrophy, Microphthalmia |
ORPHA:899 |
Cerebrooculonasal Syndrome |
|
Blindness |
ORPHA:66625 |
1Q41Q42 Microdeletion Syndrome |
|
Hypergonadotropic hypogonadism, Abnormality iris morphology, Congenital diaphragmatic hernia |
ORPHA:250999 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Cryptorchidism, Horseshoe kidney, Multiple renal cysts, Abnormality of the u... |
ORPHA:99776 |
Atypical Werner Syndrome |
|
Abnormality of retinal pigmentation, Diabetes mellitus, Lipoatrophy, Abnormal circulating leptin ... |
ORPHA:79474 |
Marden-Walker Syndrome |
|
Hypospadias, Cryptorchidism, Renal hypoplasia, Microphthalmia, Micropenis |
OMIM:248700 |
Acquired Generalized Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, Generalized lipodystro... |
ORPHA:79086 |
Cryptococcosis |
|
Blindness, Abnormal retinal morphology, Peritonitis, Vitritis, Abnormality of vision, Abnormal op... |
ORPHA:1546 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
Xeroderma Pigmentosum, Complementation Group B |
|
Decreased nerve conduction velocity, Microphthalmia, Hypogonadism, Optic atrophy |
OMIM:610651 |
Coats Disease |
|
Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
Curry-Jones Syndrome |
|
Microphthalmia, Optic disc coloboma |
ORPHA:1553 |
Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia |
OMIM:617466 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia, Oligosacchariduria |
ORPHA:163649 |
Dpagt1-Cdg |
|
Failure to thrive, Lipodystrophy, Nyctalopia, Flexion contracture, Optic atrophy, Developmental c... |
ORPHA:86309 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia |
ORPHA:3191 |
Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Cryptorchidism, Optic disc coloboma, Microphthalmia, Hydronephrosis |
ORPHA:568 |
Aica-Ribosiduria |
|
Congenital blindness |
ORPHA:250977 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Cryptorchidism, Bicornuate uter... |
ORPHA:2059 |
Familial Dysautonomia |
|
Myopia, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Optic atrophy, Gastroesophag... |
ORPHA:1764 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia, Hypospadias, Hydronephrosis, Clitoral hypertrophy |
OMIM:616449 |
Saul-Wilson Syndrome |
|
Nyctalopia, Cataract |
OMIM:618150 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Nyctalopia, Peripheral visual field loss, Hypoautofluorescent retinal lesion, Rod-cone dystrophy,... |
OMIM:250410 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Blindness, Xerostomia, Thyroiditis, Weight loss, Keratoconjunctivitis sicca, Abnormal optic nerve... |
ORPHA:79078 |
Meckel Syndrome, Type 2 |
|
Microphthalmia, Renal cyst |
OMIM:603194 |
Kapur-Toriello Syndrome |
|
Hypoplastic labia majora, Microphthalmia, Micropenis, Cryptorchidism |
OMIM:244300 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Blindness, Retinal telangiectasia, Optic atrophy, Exudative retinopathy, Intestinal bleeding |
OMIM:612199 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Abnormally large globe |
OMIM:615249 |
Encephalocraniocutaneous Lipomatosis |
|
Cryptorchidism, Hypoplasia of the iris, Microphthalmia, Pelvic kidney, Hydronephrosis |
OMIM:613001 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia |
OMIM:167730 |
Visual Impairment And Progressive Phthisis Bulbi |
|
Flat cornea, Reduced visual acuity, Hypermetropia |
OMIM:618283 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Female exter... |
ORPHA:90793 |
Joubert Syndrome 14 |
|
Microphthalmia, Optic atrophy, Renal cyst |
OMIM:614424 |
Monosomy 18P |
|
Microphthalmia |
ORPHA:1598 |
Retinoblastoma |
|
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Reduced visual acu... |
ORPHA:790 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia, Pelvic kidney |
OMIM:617244 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Septate vagina, Uterus didelphys, Vaginal atresia... |
ORPHA:2237 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
Temtamy Syndrome |
|
Microphthalmia |
OMIM:218340 |
Meckel Syndrome 14 |
|
Ambiguous genitalia, Microphthalmia, Aplasia of the uterus, Polycystic kidney dysplasia |
OMIM:619879 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
Pseudotrisomy 13 Syndrome |
|
Cryptorchidism, Renal hypoplasia, Bicornuate uterus, Microphthalmia, Micropenis |
OMIM:264480 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia, Micropenis, Cryptorchidism |
OMIM:241410 |
Joubert Syndrome 2 |
|
Renal insufficiency, Optic disc coloboma, Renal cyst, Nephronophthisis, Hypoplastic male external... |
OMIM:608091 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Insulin resistance, Hyperinsulinemia, Central hypothyroidism... |
ORPHA:508 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia, Cryptorchidism |
ORPHA:404440 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Clitoral hypertrophy, Renal salt wasting, Female external genitalia in individual with 46,XY kary... |
ORPHA:168558 |
Trichothiodystrophy 3, Photosensitive |
|
Bilateral cryptorchidism, Microphthalmia |
OMIM:616395 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Renal hypoplasia, Horseshoe kidney, Hypop... |
OMIM:601186 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia, Unilateral cryptorchidism |
OMIM:206920 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia |
OMIM:618804 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Reduced intraabdominal adi... |
OMIM:608594 |
Gm1 Gangliosidosis Type 1 |
|
Cherry red spot of the macula, Blindness, Abnormal odontoid tissue morphology |
ORPHA:79255 |
Oeis Complex |
|
Hydroureter, Bifid uterus, Epispadias, Vesicovaginal fistula, Ambiguous genitalia, female, Crypto... |
OMIM:258040 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Clitoral hypertrophy, Renal salt wasting, Female external genitalia in individual with 46,XY kary... |
ORPHA:289548 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia |
OMIM:300863 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Hypospadias, Optic nerve hypoplasia, Hypogonadotropic hypogona... |
OMIM:206900 |
Hyper-Igd Syndrome |
|
Optic disc pallor, Nyctalopia, Chronic diarrhea, Diarrhea, Vomiting, Rod-cone dystrophy |
OMIM:260920 |
Meckel Syndrome, Type 4 |
|
Microphthalmia, Renal cyst |
OMIM:611134 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
Plasminogen Deficiency, Type I |
|
Blindness, Conjunctivitis |
OMIM:217090 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Microphthalmia, Micropenis, Clitoral h... |
OMIM:309801 |
Hydranencephaly |
|
Blindness, Optic nerve hypoplasia, Chorioretinal atrophy, Abnormality of vision, Atrophic pituita... |
ORPHA:2177 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Precocious puberty, Microphthalmia, Anophthalmia, Hypospadias |
OMIM:615877 |
Fanconi Anemia, Complementation Group F |
|
Cryptorchidism, Renal hypoplasia, Microphallus, Vesicoureteral reflux, Microphthalmia, Pelvic kidney |
OMIM:603467 |
Stevenson-Carey Syndrome |
|
Microphthalmia |
OMIM:611961 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anterior uveitis, Blindness, Symblepharon, Oral-pharyngeal dysphagia, Keratitis, Visual loss, Cor... |
ORPHA:95455 |
Duane-Radial Ray Syndrome |
|
Optic disc hypoplasia, Facial palsy, Aganglionic megacolon, Renal hypoplasia, Horseshoe kidney, V... |
OMIM:607323 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Hypoplasia of the uterus, Microphthalmia |
OMIM:110100 |
Mucopolysaccharidosis, Type Iiid |
|
Inguinal hernia, Diarrhea, Nyctalopia, Achilles tendon contracture, Elbow flexion contracture, Dy... |
OMIM:252940 |
Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Amblyopia, Hypothyroidism, Lens coloboma, Retinal... |
ORPHA:42775 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia, Optic atrophy |
OMIM:234050 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Cryptorchidism, Bilateral microphthalmos |
ORPHA:369891 |
Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Hypospadias, Cryptorchidism, Penoscrotal transposition, Microphthalmia |
OMIM:619148 |
Martsolf Syndrome 1 |
|
Microphthalmia, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism |
OMIM:212720 |
Meckel Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, True hermaphroditism, Cryptorch... |
ORPHA:564 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia |
OMIM:614526 |
Jacobsen Syndrome |
|
Hypospadias, Cryptorchidism, Optic atrophy, Clitoral hypoplasia, Macular hypoplasia, Labial hypop... |
OMIM:147791 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Decrea... |
OMIM:269700 |
Fanconi Anemia, Complementation Group E |
|
Hypergonadotropic hypogonadism, Ectopic kidney, Cryptorchidism, Horseshoe kidney, Microphthalmia |
OMIM:600901 |
Acro-Renal-Ocular Syndrome |
|
Optic disc hypoplasia, Aganglionic megacolon, Optic disc coloboma, Horseshoe kidney, Bladder dive... |
ORPHA:959 |
Leprosy |
|
Blindness, Uveitis, Abnormality of the adrenal glands, Iritis, Corneal perforation, Corneal ulcer... |
ORPHA:548 |
Steinert Myotonic Dystrophy |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
ORPHA:273 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia |
ORPHA:163966 |
Microphthalmia, Syndromic 6 |
|
Myopia, Blindness, Retinal dystrophy, Female hypogonadism, Sclerocornea, Adrenal hypoplasia, Micr... |
OMIM:607932 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia, Cryptorchidism |
OMIM:619135 |
Pallister-Hall Syndrome |
|
Decreased testicular size, Hydroureter, Distal urethral duplication, Ectopic kidney, Precocious p... |
OMIM:146510 |
Oculopalatocerebral Syndrome |
|
Microphthalmia |
OMIM:257910 |
Cataract 49 |
|
Posterior cortical cataract, Reduced visual acuity |
OMIM:619593 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia, Cryptorchidism |
OMIM:612530 |
Frontofacionasal Dysplasia |
|
Microphthalmia |
ORPHA:1791 |
Dysosteosclerosis |
|
Blindness, Optic atrophy |
OMIM:224300 |
Vacterl With Hydrocephalus |
|
Cryptorchidism, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology |
ORPHA:3412 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Optic atrophy, Hypoplasia of the i... |
OMIM:251300 |
Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Renal hypoplasia, Aplasia of the uterus, Microphthalmia, Micropenis |
OMIM:614083 |
Fanconi Anemia, Complementation Group A |
|
Hypergonadotropic hypogonadism, Ectopic kidney, Cryptorchidism, Horseshoe kidney, Microphthalmia |
OMIM:227650 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Bilateral microphthalmos |
ORPHA:2399 |
Neonatal Marfan Syndrome |
|
Iridodonesis, Small for gestational age, Lipoatrophy, Ectopia lentis, Flexion contracture, High m... |
ORPHA:284979 |
Hepatoerythropoietic Porphyria |
|
Blindness, Scarring, Scarring alopecia of scalp, Keratoconjunctivitis, Corneal ulceration |
ORPHA:95159 |
Heart And Brain Malformation Syndrome |
|
Microphthalmia |
OMIM:616920 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Blindness, Optic nerve dysplasia, Retinal dysplasia, Opacification of the corneal stroma |
OMIM:615287 |
Gm2-Gangliosidosis, Ab Variant |
|
Blindness |
OMIM:272750 |
8Q21.11 Microdeletion Syndrome |
|
Microphthalmia, Hypoplasia of penis, Cryptorchidism |
ORPHA:284160 |
Sarcoidosis |
|
Blindness, Cataract, Hyperthyroidism, Scarring, Diabetes insipidus, Uveitis, Weight loss, Keratoc... |
ORPHA:797 |
Mosaic Trisomy 1 |
|
Renal cortical cysts, Renal cyst, Microphthalmia, Micropenis, Penile hypospadias |
ORPHA:1692 |
Menke-Hennekam Syndrome 1 |
|
Blindness, Cataract, Inguinal hernia, Flexion contracture, Hypermetropia, Chronic constipation, G... |
OMIM:618332 |
3P25.3 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:435638 |
3Q29 Microdeletion Syndrome |
|
Microphthalmia, Hypospadias, Horseshoe kidney |
ORPHA:65286 |
Proximal Renal Tubular Acidosis |
|
Cataract, Band keratopathy, Diarrhea, Enamel hypomineralization, Vomiting, Glycosuria, Failure to... |
ORPHA:47159 |
Ohdo Syndrome, X-Linked |
|
Small scrotum, Cryptorchidism, Shawl scrotum, Microphthalmia, Micropenis |
OMIM:300895 |
Phace Association |
|
Microphthalmia, Optic atrophy, Optic nerve hypoplasia, Horner syndrome |
OMIM:606519 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia, Hydronephrosis |
ORPHA:35173 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia |
OMIM:617306 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Microphthalmia, Micropenis, Cryptorchidism |
OMIM:614230 |
Tetraamelia Syndrome 1 |
|
Hypoplasia of the fallopian tube, Absent external genitalia, Urethral atresia, Microphthalmia, Va... |
OMIM:273395 |
Fraser Syndrome 2 |
|
Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Ambiguous genitalia, Microphthalmia |
OMIM:617666 |
Arima Syndrome |
|
Blindness, Optic atrophy, Retinal dystrophy, Chorioretinal coloboma |
OMIM:243910 |
Fetal Alcohol Syndrome |
|
Microphthalmia |
ORPHA:1915 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia |
OMIM:616538 |
Stromme Syndrome |
|
Hydronephrosis, Microphthalmia, Bilateral renal hypoplasia, Optic nerve hypoplasia |
OMIM:243605 |
Chromosome 17Q12 Deletion Syndrome |
|
Multicystic kidney dysplasia, Unilateral renal agenesis, Cryptorchidism, Urethral stenosis, Urete... |
OMIM:614527 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glo... |
OMIM:617729 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... |
OMIM:202010 |
Fraser Syndrome |
|
Hypoplasia of penis, Anophthalmia, Multicystic kidney dysplasia, Hypospadias, Small scrotum, Cryp... |
ORPHA:2052 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia |
OMIM:620098 |
Neurooculorenal Syndrome |
|
Iris atrophy, Decreased circulating cortisol level, Ectopic posterior pituitary, Decreased circul... |
OMIM:620305 |
Fanconi Anemia, Complementation Group C |
|
Hypergonadotropic hypogonadism, Ectopic kidney, Cryptorchidism, Horseshoe kidney, Microphthalmia |
OMIM:227645 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Retinal dystrophy, Optic nerve hypoplasia, Nyctalopia, Flexion contracture, Optic atrophy, Abdomi... |
OMIM:619321 |
Bosma Arhinia Microphthalmia Syndrome |
|
Hypospadias, Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplastic labia majora, Microphthal... |
OMIM:603457 |
Cousin Syndrome |
|
Microphthalmia, Ambiguous genitalia, female, Ambiguous genitalia, male, Hydronephrosis |
OMIM:260660 |
Cohen Syndrome |
|
Microphthalmia, Optic atrophy, Cryptorchidism |
ORPHA:193 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Macroorchidism, Hypospadias, Unilateral microphthalmos |
OMIM:618874 |
Oculofaciocardiodental Syndrome |
|
Microphthalmia |
ORPHA:2712 |
Bartsocas-Papas Syndrome 1 |
|
Ectopic kidney, Bilateral cryptorchidism, Absent external genitalia, Hypoplastic labia majora, Bi... |
OMIM:263650 |
Histiocytoid Cardiomyopathy |
|
Optic atrophy, Renal cyst, Polycystic ovaries, Microphthalmia, Congenital aphakia |
ORPHA:137675 |
Fryns Syndrome |
|
Bifid scrotum, Ureteral duplication, Hypospadias, Aganglionic megacolon, Cryptorchidism, Renal cy... |
OMIM:229850 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia, Male urethral meatus stenosis, Hydronephrosis, Hypospadias |
ORPHA:464738 |
Charge Syndrome |
|
Bifid scrotum, Anophthalmia, Hypogonadotropic hypogonadism, Facial palsy, Cryptorchidism, Optic a... |
ORPHA:138 |
Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia, Hypogonadism |
OMIM:601675 |
Congenital Erythropoietic Porphyria |
|
Blindness, Scarring, Increased connective tissue, Scarring alopecia of scalp, Keratoconjunctiviti... |
ORPHA:79277 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Cryptorchidism, Renal hypoplasia, Renal cyst, Ambiguous genitalia, Microphthalmia |
OMIM:616300 |
Microgastria-Limb Reduction Defect Syndrome |
|
Multicystic kidney dysplasia, Anophthalmia, Horseshoe kidney, Perineal fistula, Rectovaginal fist... |
ORPHA:2538 |
1Q21.1 Microdeletion Syndrome |
|
Vesicoureteral reflux, Microphthalmia, Hydronephrosis, Cryptorchidism |
ORPHA:250989 |
Fanconi Anemia |
|
Renal insufficiency, Hydroureter, Hypospadias, Aganglionic megacolon, Abnormal preputium morpholo... |
ORPHA:84 |
Renpenning Syndrome 1 |
|
Blindness, Cataract, Hypermetropia, Camptodactyly, Joint contracture of the hand |
OMIM:309500 |
Trisomy 18 |
|
Microphthalmia, Abnormal morphology of female internal genitalia, Hydronephrosis, Cryptorchidism |
ORPHA:3380 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia |
OMIM:618571 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Hydron... |
OMIM:271520 |
3Q29 Microduplication Syndrome |
|
Aniridia, Microphthalmia |
ORPHA:251038 |
Pelvis-Shoulder Dysplasia |
|
Ambiguous genitalia, Bilateral microphthalmos, Hydronephrosis |
ORPHA:2839 |
Frontonasal Dysplasia 2 |
|
Bilateral cryptorchidism, Microphthalmia |
OMIM:613451 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia, Hydronephrosis |
OMIM:302960 |
Senior-Loken Syndrome 3 |
|
Visual loss, Congenital blindness |
OMIM:606995 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Microphthalmia, Optic atrophy |
OMIM:253800 |
Fanconi Anemia, Complementation Group D2 |
|
Hypergonadotropic hypogonadism, Ectopic kidney, Cryptorchidism, Horseshoe kidney, Microphthalmia,... |
OMIM:227646 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos |
OMIM:610758 |
Joubert Syndrome 5 |
|
Congenital blindness, Rod-cone dystrophy, Retinal coloboma, Reduced visual acuity |
OMIM:610188 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Microphthalmia, Micropenis, Uterus didelphys, Septate vagina |
OMIM:617925 |
Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
Adams-Oliver Syndrome |
|
Microphthalmia |
ORPHA:974 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Ambiguous genitalia, Microphthalmia |
ORPHA:2166 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Hypospadias, Optic nerve hypoplasia, Facial palsy, Renal hypoplasia, Horseshoe kidney, Abnormal o... |
ORPHA:508498 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Renal insufficiency, Urinary incontinence, Bifid uterus, Epispadias, Penoscrotal t... |
ORPHA:322 |
Teebi-Shaltout Syndrome |
|
Microphthalmia, Ureteral stenosis, Hydronephrosis, Horseshoe kidney |
OMIM:272950 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia |
ORPHA:1352 |
2Q31.1 Microdeletion Syndrome |
|
Microphthalmia, Optic disc coloboma, Cryptorchidism |
ORPHA:251014 |
Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, Microphallus, Absen... |
ORPHA:284339 |
Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Horseshoe kidney, Hypoplasia of the iris, Microphthalmia, Hydroneph... |
ORPHA:2092 |
17Q11 Microdeletion Syndrome |
|
Blindness, Retinal vascular proliferation, Precocious puberty, Glomus jugular tumor, Elevated cir... |
ORPHA:97685 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina, Optic nerve hypoplasia, Unilateral renal agenesis |
ORPHA:457284 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesi... |
ORPHA:90324 |
Holoprosencephaly |
|
Hypoplasia of penis, Anophthalmia, Proteinuria, Cryptorchidism, Optic atrophy, Microphthalmia |
ORPHA:2162 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Clitoral hypertrophy, Hypogonadotropic hypogonadism, Abnormal external genita... |
ORPHA:90794 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microphthalmia |
OMIM:257850 |
Cat Eye Syndrome |
|
Vesicoureteral reflux, Microphthalmia, Hydronephrosis, Horseshoe kidney |
OMIM:115470 |
Cockayne Syndrome B |
|
Renal insufficiency, Proteinuria, Abnormal auditory evoked potentials, Decreased nerve conduction... |
OMIM:133540 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia |
OMIM:156610 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Myopia, Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gona... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Myopia, Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gona... |
ORPHA:99228 |
Monosomy X |
|
Myopia, Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gona... |
ORPHA:99226 |
Turner Syndrome |
|
Myopia, Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gona... |
ORPHA:881 |
Hallermann-Streiff Syndrome |
|
Microphthalmia, Optic disc coloboma, Cryptorchidism |
OMIM:234100 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypospadias, Cryptorchidism, Optic atrophy, Renal cyst, Vesicoureteral reflux, Microphthalmia |
OMIM:616975 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614643 |
Mosaic Variegated Aneuploidy Syndrome |
|
Ambiguous genitalia, Microphthalmia, Multicystic kidney dysplasia, Vaginal neoplasm |
ORPHA:1052 |
Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia, Micropenis |
OMIM:610829 |
Meckel Syndrome, Type 1 |
|
External genital hypoplasia, Cryptorchidism, Ambiguous genitalia, female, Abnormality of the uret... |
OMIM:249000 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Microphthalmia |
OMIM:613150 |
Proboscis Lateralis |
|
Anophthalmia, Optic nerve hypoplasia, Unilateral renal agenesis, External genital hypoplasia, Opt... |
ORPHA:141099 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Horseshoe kidney |
ORPHA:3320 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... |
ORPHA:3464 |
Dubowitz Syndrome |
|
Hypoplasia of the iris, Microphthalmia, Hypospadias, Cryptorchidism |
OMIM:223370 |
Microcephaly-Micromelia Syndrome |
|
Microphthalmia |
OMIM:251230 |
Frontorhiny |
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Microphthalmia |
ORPHA:391474 |
Treacher-Collins Syndrome |
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Hypoplasia of penis, Small scrotum, Cryptorchidism, Rectovaginal fistula, Microphthalmia |
ORPHA:861 |
Aicardi Syndrome |
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Precocious puberty, Microphthalmia, Optic disc coloboma, Optic atrophy |
ORPHA:50 |
Basal Cell Nevus Syndrome 1 |
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Microphthalmia, Ovarian fibroma, Ovarian carcinoma |
OMIM:109400 |
Fraser Syndrome 1 |
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Blindness, Abnormal thymus morphology, Corneal opacity |
OMIM:219000 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
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Bifid scrotum, Hypospadias, Cryptorchidism, Horseshoe kidney, Clitoral hypoplasia, Microphthalmia... |
OMIM:609945 |
Microphthalmia With Limb Anomalies |
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Cryptorchidism, Optic atrophy, Horseshoe kidney, Microphthalmia, True anophthalmia |
ORPHA:1106 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Bifid uterus |
ORPHA:2736 |
Townes-Brocks Syndrome |
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Bifid scrotum, Hypoplasia of penis, Renal insufficiency, Hypospadias, Urethral valve, Rectoperine... |
ORPHA:857 |
Acrofrontofacionasal Dysostosis 1 |
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Microphthalmia, Optic atrophy |
OMIM:201180 |
Incontinentia Pigmenti |
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Hypoplasia of the fovea, Microphthalmia, Optic atrophy |
OMIM:308300 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Optic disc pallor, Hypospadias, Optic nerve hypoplasia, Unilateral renal agenesis, Cryptorchidism... |
ORPHA:468631 |
Xeroderma Pigmentosum, Complementation Group D |
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Microphthalmia |
OMIM:278730 |
Roberts Syndrome |
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Cryptorchidism, Long penis, Polycystic kidney dysplasia, Microphthalmia, Clitoral hypertrophy |
ORPHA:3103 |
Mycophenolate Mofetil Embryopathy |
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Microphthalmia, Ectopic kidney |
ORPHA:268249 |
Oculocerebrorenal Syndrome Of Lowe |
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Renal insufficiency, Proteinuria, Cryptorchidism, Proximal renal tubular acidosis, Nephrolithiasi... |
ORPHA:534 |
Cockayne Syndrome |
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Optic disc pallor, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Un... |
ORPHA:191 |
22Q11.2 Deletion Syndrome |
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Hypospadias, Aganglionic megacolon, Cryptorchidism, Optic atrophy, Renal hypoplasia, Multiple ren... |
ORPHA:567 |
Monosomy 9P |
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Hypospadias, Cryptorchidism, Ambiguous genitalia, Microphthalmia, Ureteropelvic junction obstruction |
ORPHA:261112 |
Monosomy 9Q22.3 |
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Microphthalmia, Ovarian fibroma |
ORPHA:77301 |
Pmm2-Cdg |
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Myopia, Failure to thrive, Cataract, Multiple joint contractures, Lipodystrophy, Hypogonadotropic... |
ORPHA:79318 |
Kenny-Caffey Syndrome, Type 2 |
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Microphthalmia, Papilledema |
OMIM:127000 |
Premature Aging Syndrome, Penttinen Type |
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Microphthalmia |
OMIM:601812 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
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Microphthalmia |
OMIM:300952 |
Aicardi Syndrome |
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Precocious puberty, Microphthalmia, Optic disc coloboma, Optic atrophy |
OMIM:304050 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Inguinal hernia, Abnormality of connective tissue, Abnormality iris morphology |
ORPHA:91387 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
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Small scrotum, Hypospadias, Cryptorchidism, Ureterocele, Microphthalmia |
OMIM:616734 |
Rothmund-Thomson Syndrome, Type 2 |
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Microphthalmia, Hypogonadism, Cryptorchidism |
OMIM:268400 |
Focal Dermal Hypoplasia |
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Ureteral duplication, Anophthalmia, Cryptorchidism, Optic atrophy, Horseshoe kidney, Clitoral hyp... |
OMIM:305600 |
Mend Syndrome |
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Microphthalmia, Abnormal auditory evoked potentials, Cryptorchidism |
ORPHA:401973 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
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Microphthalmia |
ORPHA:85167 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
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Microphthalmia |
ORPHA:1236 |
Hydrolethalus Syndrome 1 |
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Hypospadias, Bifid uterus, Microphthalmia, Abnormal vagina morphology, Hydronephrosis |
OMIM:236680 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
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Microphthalmia |
ORPHA:364577 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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Microphthalmia, Renal hypoplasia, Cryptorchidism |
OMIM:620005 |
Curry-Jones Syndrome |
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Microphthalmia |
OMIM:601707 |
Incontinentia Pigmenti |
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Microphthalmia |
ORPHA:464 |
Yunis-Varon Syndrome |
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Hypospadias, Cryptorchidism, Bilateral microphthalmos, Renovascular hypertension, Hypoplastic lab... |
ORPHA:3472 |
Lymphedema-Distichiasis Syndrome |
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Microphthalmia |
OMIM:153400 |
Microphthalmia, Syndromic 2 |
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Anophthalmia, Hypospadias, Septate vagina, Cryptorchidism, Phthisis bulbi, Microphthalmia |
OMIM:300166 |
Trichothiodystrophy |
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Cryptorchidism, Gonadal dysgenesis, Bilateral microphthalmos |
ORPHA:33364 |
Oculodentodigital Dysplasia |
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Microphthalmia, Neurogenic bladder |
OMIM:164200 |
Hallermann-Streiff Syndrome |
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Microphthalmia, Cryptorchidism |
ORPHA:2108 |
Isolated Arrhinia |
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Microphthalmia |
ORPHA:1134 |
Degcags Syndrome |
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Hypospadias, Abnormal renal medulla morphology, Cryptorchidism, Chronic kidney disease, Bilateral... |
OMIM:619488 |
Pallister-Hall Syndrome |
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Small scrotum, Hypospadias, Unilateral renal agenesis, Ectopic kidney, Precocious puberty, Crypto... |
ORPHA:672 |
Microphthalmia, Syndromic 1 |
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Blindness, Optic disc coloboma, Microcornea, Ciliary body coloboma, Chorioretinal coloboma, Campt... |
OMIM:309800 |
Cardiac-Urogenital Syndrome |
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Bifid scrotum, Penoscrotal hypospadias, Unilateral cryptorchidism, Cryptorchidism, Patent urachus... |
OMIM:618280 |
Oculo-Palato-Cerebral Syndrome |
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Microphthalmia |
ORPHA:2714 |
Charge Syndrome |
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Anophthalmia, Hypogonadotropic hypogonadism, Facial palsy, External genital hypoplasia, Cryptorch... |
OMIM:214800 |
Phocomelia, Schinzel Type |
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Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus |
ORPHA:2879 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Hydrocele testis, Microphthalmia, Optic disc coloboma, Facial palsy |
OMIM:620186 |
Linear Nevus Sebaceus Syndrome |
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Microphthalmia |
ORPHA:2612 |
Lowe Oculocerebrorenal Syndrome |
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Renal insufficiency, Hyperphosphaturia, Cryptorchidism, Bicarbonaturia, Proximal renal tubular ac... |
OMIM:309000 |
Chromosome 13Q14 Deletion Syndrome |
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Microphthalmia, Micropenis, Cryptorchidism |
OMIM:613884 |
Fontaine Progeroid Syndrome |
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Small scrotum, Cryptorchidism, Hypoplastic labia majora, Microphthalmia, Micropenis |
OMIM:612289 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Buphthalmos, Microphthalmia, Hypoplasia of the retina, Optic atrophy |
OMIM:253280 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Papilledema, Bilateral microphthalmos, Decreased testicular size |
ORPHA:93325 |
Steinfeld Syndrome |
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Microphthalmia |
OMIM:184705 |
Thrombocytopenia-Absent Radius Syndrome |
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Vesicoureteral reflux, Ureteral duplication, Aplasia of the uterus, Horseshoe kidney |
OMIM:274000 |
Okamoto Syndrome |
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Urinary incontinence, Abnormally large globe, Bifid uterus, Unilateral renal hypoplasia, Ureterop... |
ORPHA:2729 |
Adams-Oliver Syndrome 1 |
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Microphthalmia, Imperforate hymen |
OMIM:100300 |
Myhre Syndrome |
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Microphthalmia, Cryptorchidism |
OMIM:139210 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
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Abnormal reproductive system morphology, Bifid uterus |
ORPHA:1521 |
Holoprosencephaly 7 |
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Microphthalmia, Bilateral microphthalmos |
OMIM:610828 |
Neu-Laxova Syndrome 1 |
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Cryptorchidism, Microphthalmia, Bifid uterus |
OMIM:256520 |
Roberts-Sc Phocomelia Syndrome |
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Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Horseshoe kidney, Bicornuate uter... |
OMIM:268300 |
Limb-Mammary Syndrome |
|
Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
Holoprosencephaly 1 |
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Microphthalmia, Micropenis |
OMIM:236100 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
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Microphthalmia |
ORPHA:3186 |
Townes-Brocks Syndrome 1 |
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Bifid scrotum, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Re... |
OMIM:107480 |
Coffin-Siris Syndrome 1 |
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Hydroureter, Hypospadias, Ectopic kidney, Cryptorchidism, Renal hypoplasia, Aplasia of the uterus... |
OMIM:135900 |
Witteveen-Kolk Syndrome |
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Hypospadias, Unilateral cryptorchidism, Phimosis, Male urethral meatus stenosis, Microphallus, Mi... |
OMIM:613406 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
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Microphthalmia |
OMIM:608670 |
Monosomy 13Q14 |
|
Microphthalmia |
ORPHA:1587 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Webbed penis, Aga... |
ORPHA:261537 |
Wolf-Hirschhorn Syndrome |
|
Rieger anomaly, Hypospadias, Precocious puberty, Cryptorchidism, Aplasia of the uterus |
OMIM:194190 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Aganglionic megacolon, Hypospadias, Cryptorchidism, Microphthalmia |
OMIM:235730 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Hypospadias, Facial palsy, Cryptorchidism, Renal cyst, Microphthalmia |
OMIM:113620 |
Frontofacionasal Dysplasia |
|
Microphthalmia |
OMIM:229400 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Webbed penis, Aga... |
ORPHA:261552 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Webbed penis, Aga... |
ORPHA:2152 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Microphthalmia |
ORPHA:306542 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Microphthalmia |
OMIM:612474 |
8Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Unilateral renal agenesis, Bilateral microphthalmos, Bilateral renal hypo... |
ORPHA:508488 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse |
OMIM:130050 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Microphthalmia, Lens coloboma |
OMIM:619539 |
Treacher Collins Syndrome 1 |
|
Cryptorchidism, Bilateral microphthalmos |
OMIM:154500 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus |
OMIM:276820 |
Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Cryptorchidism, Cystocele, Renovascular hypertension, Bladder diverticulum, Uterine ... |
ORPHA:286 |
Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
Holoprosencephaly 2 |
|
Microphthalmia |
OMIM:157170 |
Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Anophthalmia, Ectopic kidney, Vesicoureteral reflux, Microphthalmia... |
OMIM:164210 |
Pallister-Killian Syndrome |
|
Small scrotum, Hypospadias, Cryptorchidism, Renal cyst, Hypoplastic labia majora, Aplasia of the ... |
OMIM:601803 |