| Fructosuria, Essential |
|
Impairment of fructose metabolism |
OMIM:229800 |
| Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
| Premature Ovarian Failure 12 |
|
Microphthalmia, Macular dystrophy |
OMIM:616947 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Retinal degeneration |
OMIM:251700 |
| Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
| Congenital Disorder Of Glycosylation, Type Icc |
|
Type I transferrin isoform profile |
OMIM:301031 |
| Fructose And Galactose Intolerance |
|
Fructose intolerance, Galactose intolerance |
OMIM:229500 |
| Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Reticular pigmentary degeneration, Drusen, Retinal dystrophy |
OMIM:267800 |
| Nanophthalmos |
|
Abnormal choroid morphology, Microphthalmia, Abnormality of retinal pigmentation |
ORPHA:35612 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Inferior chorioretinal coloboma, Microphthalmia |
OMIM:614497 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Chorioretinal dysplasia, Microphthalmia |
OMIM:616335 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Chorioretinal coloboma, Optic pit, Microphthalmia |
OMIM:616428 |
| Macular Degeneration, Age-Related, 13 |
|
Macular degeneration, Choroidal neovascularization, Drusen, Macular scar |
OMIM:615439 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Microphthalmia, Abnormality of retinal pigmentation |
ORPHA:1574 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
| Retinitis Pigmentosa 36 |
|
Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... |
OMIM:610599 |
| Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
| Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
| Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
| Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
| Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
| Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
| Nanophthalmos 4 |
|
Optic disc drusen, Microphthalmia |
OMIM:615972 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Peripheral retinal avascularization, Subretinal exudate, Retinal vascular tortuosity, Retinal det... |
OMIM:305390 |
| Cystinuria |
|
Abnormality of amino acid metabolism |
ORPHA:214 |
| Congenital Primary Aphakia |
|
Congenital aphakia, Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye,... |
ORPHA:83461 |
| Carpal Tunnel Syndrome |
|
Reduced circulating vitamin B6 level |
OMIM:115430 |
| Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Retinal degeneration, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:617572 |
| Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... |
OMIM:613830 |
| Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Chorioretinal coloboma, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
| Exudative Vitreoretinopathy 3 |
|
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Macular atrophy, Microphthalmia, Cystoid macular degeneration, Retinal degeneration |
OMIM:267760 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
| X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Retinal dysplasia, Abnormality of retinal pigmentation |
ORPHA:1852 |
| Microphthalmia, Isolated 8 |
|
Retinal detachment, Microphthalmia, Retinal coloboma, Optic nerve hypoplasia, True anophthalmia, ... |
OMIM:615113 |
| Microphthalmia, Isolated 5 |
|
Foveoschisis, Optic disc pallor, Cystoid macular edema, Microphthalmia, Bone spicule pigmentation... |
OMIM:611040 |
| Familial Exudative Vitreoretinopathy |
|
Abnormal optic disc morphology, Peripheral retinal avascularization, Vitreous floaters, Rhegmatog... |
ORPHA:891 |
| Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant |
|
Low levels of vitamin A |
OMIM:115300 |
| Osteoporosis, Juvenile |
|
Low serum calcitriol |
OMIM:259750 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Macular atrophy, Retinal atrophy, Retinal detachment, Peripheral cystoid retinal degeneration, Re... |
OMIM:312700 |
| Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Retinal degeneration, Retinopathy, Chorioretinal ... |
OMIM:605670 |
| Microphthalmia, Isolated 6 |
|
Retinal fold, Microphthalmia |
OMIM:613517 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia |
OMIM:615041 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ... |
OMIM:180210 |
| Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive |
|
Abnormal glycosylation |
OMIM:615596 |
| Central Retinal Vein Occlusion |
|
Retinal vascular tortuosity, Papilledema, Macular degeneration, Pigmentary retinopathy, Cystoid m... |
ORPHA:411527 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Abnormal fundus autofluorescence imaging, Hyporeflective spaces on macular OCT, Retinal atrophy, ... |
ORPHA:59181 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Chorioretinal dysplasia, Retinal detachment, Optic disc pallor, Microphthalmia, Abnormality of re... |
OMIM:251270 |
| Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Retinal dysplasia |
OMIM:614830 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Optic nerve misrouting, Foveal hyperpigmentation, Microphthalmia |
OMIM:609218 |
| Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, R... |
OMIM:193235 |
| Exudative Vitreoretinopathy 1 |
|
Peripheral retinal avascularization, Vitreous floaters, Retinal exudate, Retinal detachment, Ecto... |
OMIM:133780 |
| Macular Degeneration, Age-Related, 1 |
|
Foveal hypopigmentation, Macular hemorrhage, Macular drusen, Macular degeneration, Geographic atr... |
OMIM:603075 |
| Familial Drusen |
|
Reticular pigmentary degeneration, Macular hemorrhage, Macular atrophy, Peripapillary chorioretin... |
ORPHA:75376 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
| Birdshot Chorioretinopathy |
|
Vitreous floaters, Abnormal retinal vascular morphology, Epiretinal membrane, Retinal detachment,... |
ORPHA:179 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Chorioretinal coloboma, Microphthalmia, Retinal dystrophy |
ORPHA:231736 |
| Retinitis Pigmentosa 70 |
|
Macular degeneration, Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:615922 |
| Chorioretinal Atrophy, Progressive Bifocal |
|
Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy |
OMIM:600790 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy, ... |
OMIM:613194 |
| Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Retinal arterial macroaneurysms, Exudative retinal detachment |
OMIM:614224 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Chorioretinal coloboma, Microphthalmia |
OMIM:120433 |
| Coats Disease |
|
Abnormal retinal vascular morphology, Retinal detachment, Abnormal macular morphology, Aplasia/Hy... |
ORPHA:190 |
| Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the... |
OMIM:609913 |
| Tyrosinemia Type 2 |
|
Abnormality of amino acid metabolism |
ORPHA:28378 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia, Retinal dysplasia |
OMIM:615771 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Macular atrophy, Retinal detachment, Microphthalmia, Buphthalmos, Chorioretinal coloboma, Retinal... |
OMIM:212550 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Rod-cone dystrophy, Microphthalmia, Retinal coloboma |
OMIM:601794 |
| Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Vitreoretinochoroidopathy |
|
Abnormality of chorioretinal pigmentation, Pigmentary retinopathy, Retinal detachment, Retinal ar... |
OMIM:193220 |
| Pernicious Anemia |
|
Malabsorption of Vitamin B12 |
OMIM:170900 |
| Retinitis Pigmentosa 13 |
|
Rod-cone dystrophy, Cystoid macular edema, Asteroid hyalosis, Retinal degeneration, Bone spicule ... |
OMIM:600059 |
| Essential Fructosuria |
|
Impairment of fructose metabolism |
ORPHA:2056 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Rod-cone dystrophy, Retinal coloboma, Microphthalmia |
ORPHA:363741 |
| Retinal Dystrophy And Obesity |
|
Peripapillary atrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood vessels, Re... |
OMIM:616188 |
| Obsolete: Isolated Optic Nerve Hypoplasia/Aplasia |
|
Optic disc hypoplasia, Peripheral vitreous opacities, Optic nerve hypoplasia, Unilateral micropht... |
ORPHA:137902 |
| Irvan Syndrome |
|
Vitreous floaters, Retinal exudate, Retinal detachment, Tractional retinal detachment, Optic atro... |
ORPHA:209943 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Macular atrophy, Optic disc pallor, Microphthalmia, Retinopathy, Optic atrophy |
OMIM:616171 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Optic atrophy, Retinal detachment, Chorioretinal coloboma, Microphthalmia |
ORPHA:1473 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Retinal dysplasia |
ORPHA:324416 |
| Eales Disease |
|
Subhyaloid hemorrhage, Vitreous floaters, Rhegmatogenous retinal detachment, Epiretinal membrane,... |
ORPHA:40923 |
| Idiopathic Uveal Effusion Syndrome |
|
Subretinal fluid, Microphthalmia, Retinal fold, Exudative retinal detachment |
ORPHA:209956 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Coloboma Of Optic Nerve |
|
Optic disc coloboma, Retinal detachment |
OMIM:120430 |
| Microphthalmia, Syndromic 13 |
|
Chorioretinal coloboma, Microphthalmia |
OMIM:300915 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Optically empty vitreous, Retinal dots, Retinal detachment, Snowflake vitreoretinal degeneration |
OMIM:193230 |
| Microphthalmia, Syndromic 16 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Optic atrophy, Microphthalmia |
OMIM:274270 |
| Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
| Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
| Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
| Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Vitreous floaters, Retinal detachment, Peripheral vitreoretinal degeneration, Lattice retinal deg... |
OMIM:614292 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Abnormality of amino acid metabolism |
ORPHA:220295 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Low levels of vitamin E, Abnormality of amino acid metabolism |
ORPHA:309854 |
| Cofs Syndrome |
|
Optic atrophy, Microphthalmia, Abnormality of retinal pigmentation |
ORPHA:1466 |
| Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Morning glory anomaly, Microphthalmia, Chorioretinal coloboma, Optic disc co... |
OMIM:120200 |
| Joubert Syndrome 22 |
|
Microphthalmia, Retinal dysplasia |
OMIM:615665 |
| Myopia 28, Autosomal Recessive |
|
Retinal detachment |
OMIM:619781 |
| Norrie Disease |
|
Retinal detachment, Microphthalmia, Optic atrophy, Buphthalmos, Hypoplasia of the iris, Retinal d... |
OMIM:310600 |
| Classic Homocystinuria |
|
Abnormality of amino acid metabolism |
ORPHA:394 |
| Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
| Craniotelencephalic Dysplasia |
|
Optic atrophy, Septo-optic dysplasia, Microphthalmia |
ORPHA:1528 |
| Cat-Eye Syndrome |
|
Chorioretinal coloboma, Microphthalmia |
ORPHA:195 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Microphthalmia, Optic nerve hypoplasia |
OMIM:615181 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
| Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
| Fryns Microphthalmia Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:600776 |
| Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
| Galactose Epimerase Deficiency |
|
Impairment of galactose metabolism |
ORPHA:79238 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Retinal detachment, Microphthalmia, Exudative retinopathy, Exudative vitreoretinopathy, Abnormal ... |
ORPHA:2788 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia |
ORPHA:2528 |
| Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Microphthalmia |
OMIM:257910 |
| Galactose Mutarotase Deficiency |
|
Impairment of galactose metabolism |
ORPHA:570422 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
| Adams-Oliver Syndrome 4 |
|
Microphthalmia |
OMIM:615297 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia, Retinal dystrophy |
OMIM:613155 |
| Nance-Horan Syndrome |
|
Retinal detachment, Microphthalmia |
ORPHA:627 |
| Congenital Toxoplasmosis |
|
Microphthalmia, Abnormality of retinal pigmentation |
ORPHA:858 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Optic disc pallor, Microphthalmia |
OMIM:613730 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Chorioretinal dysplasia, Retinal detachment, Optic atrophy, Microphthalmia, Chorioretinal lacunae... |
OMIM:152950 |
| Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
| Temtamy Syndrome |
|
Chorioretinal coloboma, Microphthalmia |
ORPHA:1777 |
| Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Hypoplasia of the fovea, Microphthalmia, Hypoplasia of the iris |
OMIM:604229 |
| Microphthalmia, Syndromic 12 |
|
Anophthalmia, Microphthalmia |
OMIM:615524 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Macular coloboma, Retinal detachment, Microphthalmia |
OMIM:615145 |
| Lissencephaly 8 |
|
Optic atrophy, Microphthalmia |
OMIM:617255 |
| 2Q24 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:1617 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
| Warburg Micro Syndrome 1 |
|
Optic atrophy, Microphthalmia |
OMIM:600118 |
| Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
| Biemond Syndrome Type 2 |
|
Microphthalmia |
ORPHA:141333 |
| Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Optic disc pallor, Microphthalmia |
OMIM:300887 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos, Optic atrophy |
OMIM:615085 |
| Persistent Hyperplastic Primary Vitreous |
|
Tractional retinal detachment, Microphthalmia, Buphthalmos, Phthisis bulbi, Remnants of the hyalo... |
ORPHA:91495 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Microphthalmia |
OMIM:613153 |
| Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Chorioretinal coloboma, Microphthalmia, Retinal dystrophy |
ORPHA:139471 |
| Microphthalmia, Syndromic 5 |
|
Anophthalmia, Microphthalmia, Optic nerve hypoplasia, Retinal dystrophy |
OMIM:610125 |
| Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Abnormality of retinal pigmentation |
ORPHA:290 |
| Xk Aprosencephaly Syndrome |
|
Microphthalmia |
ORPHA:3469 |
| Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Aniridia, Macular hyp... |
ORPHA:2334 |
| Spondylo-Ocular Syndrome |
|
Aplasia/Hypoplasia of the lens, Retinal detachment, Microphthalmia |
ORPHA:85194 |
| Coats Disease |
|
Retinal telangiectasia, Exudative retinal detachment |
OMIM:300216 |
| Oculoauricular Syndrome |
|
Rod-cone dystrophy, Morning glory anomaly, Cone/cone-rod dystrophy, Retinal detachment, Microphth... |
OMIM:612109 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Abnormally large globe, Retinal degeneration |
OMIM:615249 |
| Walker-Warburg Syndrome |
|
Chorioretinal dysplasia, Retinal detachment, Microphthalmia, Retinal dysplasia, Abnormal optic ne... |
ORPHA:899 |
| Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:164180 |
| Pierpont Syndrome |
|
Microphthalmia |
ORPHA:487825 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Microphthalmia, Buphthalmos, Phthisis bulbi, Retinal nonattachment, Remnants of the hyaloid vascu... |
OMIM:221900 |
| Aspartylglucosaminuria |
|
Abnormality of amino acid metabolism |
ORPHA:93 |
| Pierpont Syndrome |
|
Microphthalmia |
OMIM:602342 |
| Pelvis-Shoulder Dysplasia |
|
Optic disc coloboma, Microphthalmia |
OMIM:169550 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Retinal detachment, Hypopigmentation of the fundus, Microphthalmia |
ORPHA:163649 |
| Microphthalmia, Syndromic 8 |
|
Microphthalmia |
OMIM:601349 |
| Otodental Syndrome |
|
Lens coloboma, Retinal coloboma, Microphthalmia |
ORPHA:2791 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
| Meckel Syndrome, Type 8 |
|
Anophthalmia, Microphthalmia |
OMIM:613885 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia |
ORPHA:48431 |
| Stt3A-Cdg |
|
Abnormal glycosylation |
ORPHA:370921 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Retinal pigment epithelial mottling, Microphthalmia |
OMIM:614105 |
| Papillorenal Syndrome |
|
Morning glory anomaly, Macular degeneration, Retinal detachment, Macular hyperpigmentation, Retin... |
OMIM:120330 |
| Congenital Disorder Of Glycosylation, Type Iiq |
|
Abnormal glycosylation |
OMIM:617395 |
| Trisomy 13 |
|
Abnormal retinal vascular morphology, Microphthalmia, Aplasia/Hypoplasia of the iris, Optic atrop... |
ORPHA:3378 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Optic atrophy, Retinal detachment, Microphthalmia, Optic nerve hypoplasia |
ORPHA:370959 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia |
OMIM:619694 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Optic atrophy, Microphthalmia |
OMIM:612379 |
| Kapur-Toriello Syndrome |
|
Retinal coloboma, Microphthalmia |
ORPHA:2328 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia |
OMIM:602501 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Abnormal glycosylation |
OMIM:616828 |
| Refsum Disease |
|
Retinopathy, Microphthalmia, Abnormality of retinal pigmentation |
ORPHA:773 |
| Stt3B-Cdg |
|
Abnormal glycosylation |
ORPHA:370924 |
| Adams-Oliver Syndrome 2 |
|
Optic atrophy, Microphthalmia |
OMIM:614219 |
| Curry-Jones Syndrome |
|
Optic disc coloboma, Microphthalmia |
ORPHA:1553 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Unilateral microphthalmos, Bilateral microphthalmos |
OMIM:619318 |
| Hartsfield Syndrome |
|
Microphthalmia |
ORPHA:2117 |
| Temtamy Syndrome |
|
Chorioretinal coloboma, Microphthalmia |
OMIM:218340 |
| Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
| Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
| Pierson Syndrome |
|
Retinal vascular tortuosity, Hypopigmentation of the fundus, Rieger anomaly, Hypoplasia of the ci... |
OMIM:609049 |
| Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
| Bresek Syndrome |
|
Microphthalmia, Optic nerve hypoplasia |
ORPHA:85284 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:93267 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Abnormal glycosylation |
OMIM:615597 |
| Morgagni-Stewart-Morel Syndrome |
|
Abnormal metabolism |
ORPHA:77296 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia, Retinal dystrophy |
OMIM:616538 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia |
ORPHA:2547 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Macular atrophy, Retinal atrophy, Cone/cone-rod dystrophy, Retinal thinning, Abnormality of retin... |
ORPHA:85167 |
| Rere-Related Neurodevelopmental Syndrome |
|
Optic atrophy, Chorioretinal coloboma, Microphthalmia |
ORPHA:494344 |
| Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
| Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
| Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
| Micro Syndrome |
|
Optic atrophy, Retinal coloboma, Microphthalmia, Abnormality of retinal pigmentation |
ORPHA:2510 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia |
OMIM:618805 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Pigmentary retinopathy, Microphthalmia, Optic atrophy |
OMIM:610651 |
| Anterior Segment Dysgenesis 2 |
|
Congenital aphakia, Anterior segment of eye aplasia, Aniridia, Microphthalmia |
OMIM:610256 |
| Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
| 17Q12 Microduplication Syndrome |
|
Microphthalmia |
ORPHA:261272 |
| Baraitser-Winter Syndrome 1 |
|
Chorioretinal coloboma, Microphthalmia |
OMIM:243310 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
| Seckel Syndrome 2 |
|
Microphthalmia |
OMIM:606744 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Microphthalmia, Optic nerve hypoplasia, Retinal dysplasia, Remnants of the hy... |
OMIM:614643 |
| Anterior Segment Dysgenesis 7 |
|
Microphthalmia, Buphthalmos |
OMIM:269400 |
| Oculo-Palato-Cerebral Syndrome |
|
Remnants of the hyaloid vascular system, Retinal detachment, Microphthalmia |
ORPHA:2714 |
| Frontonasal Dysplasia 1 |
|
Microphthalmia |
OMIM:136760 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
| Phace Association |
|
Optic atrophy, Microphthalmia, Optic nerve hypoplasia, Increased retinal vascularity |
OMIM:606519 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia |
OMIM:214150 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Retinopathy, Microphthalmia |
ORPHA:2505 |
| Ritscher-Schinzel Syndrome 3 |
|
Chorioretinal coloboma, Microphthalmia |
OMIM:619135 |
| Warburg Micro Syndrome 4 |
|
Optic atrophy, Microphthalmia |
OMIM:615663 |
| Oculofaciocardiodental Syndrome |
|
Retinal detachment, Microphthalmia |
ORPHA:2712 |
| Joubert Syndrome 14 |
|
Optic atrophy, Microphthalmia, Morning glory anomaly |
OMIM:614424 |
| Ring Chromosome 10 Syndrome |
|
Microphthalmia |
ORPHA:1438 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Retinal coloboma, Microphthalmia |
OMIM:618571 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Optic atrophy, Retinal detachment, Microphthalmia, Retinal dysplasia |
OMIM:253800 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:617914 |
| Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2717 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia |
ORPHA:3191 |
| Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia |
OMIM:610756 |
| Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia |
OMIM:618652 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Optic atrophy, Microphthalmia |
OMIM:234050 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal atrophy, Retinal detachment, Optic nerve hypoplasia, Microphthalmia, Buphthalmos, Retinal... |
OMIM:236670 |
| Meckel Syndrome, Type 5 |
|
Microphthalmia |
OMIM:611561 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Chorioretinal dysplasia, Retinal detachment, Retinopathy, Microphthalmia, Abnormality of retinal ... |
ORPHA:2526 |
| Warburg Micro Syndrome 3 |
|
Optic atrophy, Microphthalmia |
OMIM:614222 |
| Slc35A2-Cdg |
|
Decreased galactosylation of N-linked protein glycosylation, Decreased sialylation of O-linked pr... |
ORPHA:356961 |
| Kapur-Toriello Syndrome |
|
Retinal coloboma, Microphthalmia |
OMIM:244300 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Abnormal retinal morphology, Bilateral microphthalmos |
OMIM:610758 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Abnormal retinal vascular morphology, Retinal cotton wool spot, Retinal neovascularization, Macul... |
ORPHA:247691 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia |
OMIM:167730 |
| Joubert Syndrome 37 |
|
Microphthalmia |
OMIM:619185 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Optic atrophy, Septo-optic dysplasia, Microphthalmia |
ORPHA:3301 |
| Fanconi Anemia, Complementation Group I |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:609053 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Ocular albinism, Microphthalmia |
ORPHA:1352 |
| Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
| Monosomy 18P |
|
Microphthalmia |
ORPHA:1598 |
| Kenny-Caffey Syndrome, Type 2 |
|
Papilledema, Retinal calcification, Microphthalmia |
OMIM:127000 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia |
OMIM:619053 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lens coloboma, Microphthalmia |
OMIM:618914 |
| Hydrolethalus |
|
Anophthalmia, Microphthalmia |
ORPHA:2189 |
| Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Microphthalmia |
OMIM:147250 |
| Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
| Warburg Micro Syndrome 2 |
|
Optic atrophy, Microphthalmia |
OMIM:614225 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia |
OMIM:300863 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia |
OMIM:618494 |
| Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Retinal vascular proliferation, Retinal detachment, Microphthalmia, Opti... |
OMIM:308300 |
| Sandestig-Stefanova Syndrome |
|
Microphthalmia |
OMIM:618804 |
| Joubert Syndrome 2 |
|
Optic disc coloboma, Chorioretinal coloboma, Microphthalmia, Retinal dystrophy |
OMIM:608091 |
| Moebius Syndrome |
|
Microphthalmia |
OMIM:157900 |
| Fanconi Anemia, Complementation Group S |
|
Microphthalmia |
OMIM:617883 |
| Steinfeld Syndrome |
|
Retinal coloboma, Microphthalmia |
OMIM:184705 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:77298 |
| Microphthalmia, Lenz Type |
|
Optic disc coloboma, Chorioretinal coloboma, Microphthalmia |
ORPHA:568 |
| Stevenson-Carey Syndrome |
|
Microphthalmia |
OMIM:611961 |
| Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia |
OMIM:614526 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:228390 |
| Cohen Syndrome |
|
Chorioretinal dystrophy, Optic atrophy, Microphthalmia, Abnormality of retinal pigmentation |
ORPHA:193 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Optic atrophy, Microphthalmia |
OMIM:618727 |
| Aicardi Syndrome |
|
Retinal detachment, Microphthalmia, Abnormality of retinal pigmentation, Chorioretinal coloboma, ... |
ORPHA:50 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Pigmentary retinopathy, Microphthalmia |
OMIM:614230 |
| Gracile Bone Dysplasia |
|
Aniridia, Microphthalmia |
OMIM:602361 |
| Matthew-Wood Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2470 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia |
ORPHA:163966 |
| Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:248450 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia |
ORPHA:404440 |
| Microphthalmia With Limb Anomalies |
|
Anophthalmia, Microphthalmia |
OMIM:206920 |
| Frontofacionasal Dysplasia |
|
Microphthalmia |
ORPHA:1791 |
| Stromme Syndrome |
|
Microphthalmia, Retinal vascular tortuosity, Optic nerve hypoplasia |
OMIM:243605 |
| Meckel Syndrome, Type 2 |
|
Microphthalmia |
OMIM:603194 |
| Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia |
OMIM:616395 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Bilateral microphthalmos, Microphthalmia |
ORPHA:2399 |
| Congenital Fibrinogen Deficiency |
|
Microphthalmia |
ORPHA:335 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Retinal atrophy, Microphthalmia, Retinal degeneration, Buphthalmos, Hypoplasia of the retina, Ret... |
OMIM:253280 |
| Incontinentia Pigmenti |
|
Retinal vascular proliferation, Retinal detachment, Microphthalmia, Abnormal chorioretinal morpho... |
ORPHA:464 |
| Heart And Brain Malformation Syndrome |
|
Microphthalmia |
OMIM:616920 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia |
OMIM:617306 |
| Fanconi Anemia, Complementation Group R |
|
Microphthalmia |
OMIM:617244 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Vitreoretinopathy, Retinal calcification, Microphthalmia, Exudative retinopathy, Phthisis bulbi |
OMIM:259770 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Bilateral microphthalmos |
ORPHA:369891 |
| 3P25.3 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:435638 |
| Duane-Radial Ray Syndrome |
|
Microphthalmia, Retinal coloboma, Optic disc hypoplasia |
OMIM:607323 |
| Marden-Walker Syndrome |
|
Microphthalmia |
OMIM:248700 |
| Fetal Alcohol Syndrome |
|
Microphthalmia |
ORPHA:1915 |
| Pelvis-Shoulder Dysplasia |
|
Bilateral microphthalmos, Retinal coloboma |
ORPHA:2839 |
| Meckel Syndrome, Type 4 |
|
Microphthalmia |
OMIM:611134 |
| Vacterl With Hydrocephalus |
|
Abnormal optic nerve morphology, Anophthalmia, Microphthalmia |
ORPHA:3412 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Abnormality of vitamin metabolism |
ORPHA:79302 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia |
OMIM:620098 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia |
OMIM:612530 |
| Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Vitreous hemorrhage, Microphthalmia |
OMIM:620185 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia |
OMIM:241410 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia |
OMIM:616449 |
| Momo Syndrome |
|
Chorioretinal coloboma, Bilateral microphthalmos |
ORPHA:2563 |
| 3Q29 Microduplication Syndrome |
|
Aniridia, Microphthalmia |
ORPHA:251038 |
| Mycophenolate Mofetil Embryopathy |
|
Chorioretinal coloboma, Microphthalmia |
ORPHA:268249 |
| Aicardi Syndrome |
|
Retinal detachment, Microphthalmia, Chorioretinal lacunae, Optic disc coloboma, Optic atrophy |
OMIM:304050 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Chorioretinal dysplasia, Microphthalmia, Abnormality of retinal pigmentation, Vitritis, Abnormal ... |
ORPHA:2556 |
| Galloway-Mowat Syndrome 1 |
|
Hypoplasia of the iris, Optic atrophy, Microphthalmia |
OMIM:251300 |
| Jacobsen Syndrome |
|
Optic atrophy, Microphthalmia, Chorioretinal coloboma, Macular hypoplasia |
OMIM:147791 |
| Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
| Cockayne Syndrome Type 3 |
|
Retinal hemorrhage, Retinal atrophy, Optic disc pallor, Microphthalmia, Retinal degeneration, Ret... |
ORPHA:90324 |
| Microphthalmia, Syndromic 3 |
|
Anophthalmia, Microphthalmia, Optic nerve aplasia, Optic nerve hypoplasia |
OMIM:206900 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia |
ORPHA:2728 |
| Acrofrontofacionasal Dysostosis 1 |
|
Optic atrophy, Microphthalmia |
OMIM:201180 |
| Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:613001 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia |
ORPHA:35173 |
| Martsolf Syndrome 1 |
|
Microphthalmia |
OMIM:212720 |
| Premature Aging Syndrome, Penttinen Type |
|
Hypermyelinated retinal nerve fibers, Microphthalmia |
OMIM:601812 |
| Acro-Renal-Ocular Syndrome |
|
Optic disc coloboma, Microphthalmia, Chorioretinal coloboma, Optic disc hypoplasia |
ORPHA:959 |
| Adams-Oliver Syndrome |
|
Microphthalmia |
ORPHA:974 |
| Cat Eye Syndrome |
|
Chorioretinal coloboma, Microphthalmia |
OMIM:115470 |
| Focal Dermal Hypoplasia |
|
Hypoplasia of the iris, Chorioretinal coloboma, Microphthalmia |
ORPHA:2092 |
| Hallermann-Streiff Syndrome |
|
Optic disc coloboma, Chorioretinal coloboma, Microphthalmia |
OMIM:234100 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Microphthalmia |
OMIM:619148 |
| Cockayne Syndrome |
|
Retinal hemorrhage, Retinal atrophy, Pigmentary retinopathy, Optic disc pallor, Microphthalmia, R... |
ORPHA:191 |
| Holoprosencephaly |
|
Microphthalmia, Chorioretinal coloboma, Retinopathy, Optic atrophy, Anophthalmia |
ORPHA:2162 |
| Monosomy 9Q22.3 |
|
Retinopathy, Microphthalmia |
ORPHA:77301 |
| 2Q31.1 Microdeletion Syndrome |
|
Optic disc coloboma, Microphthalmia |
ORPHA:251014 |
| Trisomy 18 |
|
Microphthalmia, Abnormality of retinal pigmentation |
ORPHA:3380 |
| Dubowitz Syndrome |
|
Hypoplasia of the iris, Rod-cone dystrophy, Microphthalmia |
OMIM:223370 |
| Parenteral Nutrition-Associated Cholestasis |
|
Abnormal metabolism |
ORPHA:567983 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microphthalmia |
OMIM:257850 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia |
OMIM:156610 |
| Meckel Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the iris, Optic atrophy, Anophthalmia, Abnormal chorioretin... |
ORPHA:564 |
| Phace Syndrome |
|
Lens coloboma, Retinal vascular malformation, Microphthalmia, Optic nerve hypoplasia |
ORPHA:42775 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:615877 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Microphthalmia, Buphthalmos |
OMIM:613150 |
| Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia |
OMIM:601675 |
| Frontonasal Dysplasia 2 |
|
Microphthalmia |
OMIM:613451 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Pigmentary retinopathy, Microphthalmia |
OMIM:309801 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Abnormal optic disc morphology, Microphthalmia, Retinal coloboma, Optic nerve hypoplasia |
ORPHA:508498 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia |
OMIM:302960 |
| Frontorhiny |
|
Microphthalmia |
ORPHA:391474 |
| Microcephaly-Micromelia Syndrome |
|
Microphthalmia |
OMIM:251230 |
| 8Q21.11 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:284160 |
| Histiocytoid Cardiomyopathy |
|
Congenital aphakia, Optic atrophy, Microphthalmia |
ORPHA:137675 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia |
OMIM:278730 |
| Mosaic Trisomy 1 |
|
Microphthalmia |
ORPHA:1692 |
| Norrie Disease |
|
Abnormal retinal vascular morphology, Retinal detachment, Microphthalmia, Aplasia/Hypoplasia of t... |
ORPHA:649 |
| Mosaic Trisomy 9 |
|
Microphthalmia |
ORPHA:99776 |
| 3Q29 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:65286 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Retinal calcification, Bilateral microphthalmos |
ORPHA:93325 |
| Developmental And Epileptic Encephalopathy 50 |
|
Abnormal glycosylation |
OMIM:616457 |
| Pseudotrisomy 13 Syndrome |
|
Microphthalmia |
OMIM:264480 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia |
OMIM:300952 |
| Galloway-Mowat Syndrome 3 |
|
Microphthalmia |
OMIM:617729 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia |
OMIM:110100 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia |
ORPHA:464738 |
| Trichothiodystrophy |
|
Macular degeneration, Bilateral microphthalmos, Retinal degeneration |
ORPHA:33364 |
| Cockayne Syndrome B |
|
Hypoplasia of the iris, Pigmentary retinopathy, Microphthalmia, Optic atrophy |
OMIM:133540 |
| Fryns Syndrome |
|
Microphthalmia |
ORPHA:2059 |
| Meckel Syndrome 14 |
|
Microphthalmia |
OMIM:619879 |
| Ohdo Syndrome, X-Linked |
|
Microphthalmia |
OMIM:300895 |
| Fanconi Anemia, Complementation Group F |
|
Microphthalmia |
OMIM:603467 |
| Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
| Chromosome 13Q14 Deletion Syndrome |
|
Retinoblastoma, Chorioretinal coloboma, Microphthalmia |
OMIM:613884 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2250 |
| Fanconi Anemia, Complementation Group E |
|
Microphthalmia |
OMIM:600901 |
| Fanconi-Bickel Syndrome |
|
Impairment of galactose metabolism |
OMIM:227810 |
| Proboscis Lateralis |
|
Microphthalmia, Optic nerve hypoplasia, Chorioretinal coloboma, Optic disc coloboma, Anophthalmia |
ORPHA:141099 |
| 1Q21.1 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:250989 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia |
ORPHA:1236 |
| Microphthalmia With Limb Anomalies |
|
True anophthalmia, Optic atrophy, Microphthalmia |
ORPHA:1106 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Optic atrophy, Microphthalmia |
OMIM:616975 |
| Fanconi Anemia, Complementation Group A |
|
Microphthalmia |
OMIM:227650 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia |
ORPHA:364577 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Unilateral microphthalmos |
OMIM:618874 |
| Cousin Syndrome |
|
Microphthalmia |
OMIM:260660 |
| Holoprosencephaly 9 |
|
Anophthalmia, Microphthalmia, Optic nerve hypoplasia |
OMIM:610829 |
| Monosomy 13Q14 |
|
Retinoblastoma, Microphthalmia |
ORPHA:1587 |
| Microphthalmia, Syndromic 2 |
|
Retinal detachment, Microphthalmia, Phthisis bulbi, Remnants of the hyaloid vascular system, Anop... |
OMIM:300166 |
