Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen... |
OMIM:177650 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Miosis, Deep anterior chamber, Mosaic corneal dystrop... |
OMIM:309300 |
Tietz Albinism-Deafness Syndrome |
|
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis, ... |
OMIM:103500 |
Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions, Iris hypopigmentation |
ORPHA:99000 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Iris hypo... |
OMIM:126070 |
Uveal Melanoma |
|
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... |
ORPHA:39044 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Albinism, Blue irides, Macular hypoplasia, Hypopigmentation of the fundus |
OMIM:606574 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Generalized hyperpigmentation, Cataract, Optic atrophy |
ORPHA:2253 |
Oculocutaneous Albinism Type 6 |
|
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma... |
ORPHA:370097 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Oculocutaneous Albinism, Type Viii |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Iris transillumination defect, Chorioretinal h... |
OMIM:619165 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Oliver-Mcfarlane Syndrome |
|
Peripheral axonal neuropathy, Central heterochromia, Hypogonadotropic hypogonadism, Decreased res... |
OMIM:275400 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Optic pit, Iris coloboma, Chorioretinal coloboma |
OMIM:616428 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Hypoplasia of the fovea, Iris cyst, Optic atrophy |
OMIM:620086 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Cataract, Optic atrophy |
OMIM:165300 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Posterior synechiae of the anterior chamber, Retinal atrophy, Iris coloboma, Developmental cataract |
OMIM:616722 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti... |
ORPHA:263479 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Leber Hereditary Optic Neuropathy, Modifier Of |
|
Optic atrophy, Leber optic atrophy |
OMIM:308905 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti... |
OMIM:143200 |
Bilateral Acute Depigmentation Of The Iris |
|
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... |
ORPHA:69736 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Horner Syndrome, Congenital |
|
Congenital Horner syndrome, Heterochromia iridis |
OMIM:143000 |
Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
Spastic Ataxia 7, Autosomal Dominant |
|
Optic atrophy, Congenital miosis |
OMIM:108650 |
Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Optic atrophy, Chorioretinal coloboma |
ORPHA:2732 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... |
ORPHA:179 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, Aganglionic megacolon, White eyebrow, Blue irides, Hypopigmented skin patches, P... |
OMIM:613265 |
Oculocutaneous Albinism Type 1 |
|
Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr... |
ORPHA:352731 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... |
ORPHA:411527 |
Late-Onset Retinal Degeneration |
|
Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus... |
ORPHA:67042 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
Auditory Neuropathy And Optic Atrophy |
|
Rod-cone dystrophy, Optic atrophy |
OMIM:617717 |
Intellectual Developmental Disorder, Autosomal Recessive 50 |
|
Heterochromia iridis |
OMIM:616460 |
Intermediate Uveitis |
|
Anterior uveitis, Cataract, Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, ... |
ORPHA:279914 |
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome |
|
Iris hypopigmentation |
ORPHA:85332 |
X-Linked Recessive Ocular Albinism |
|
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Giant melanosom... |
ORPHA:54 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch... |
ORPHA:231736 |
Glaucoma, Primary Closed-Angle |
|
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio |
OMIM:618880 |
Albinism, Oculocutaneous, Type Ii |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ... |
OMIM:203200 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... |
OMIM:604229 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Leukocoria, Uveitis, Retinal ... |
OMIM:221900 |
Griscelli Syndrome Type 1 |
|
Partial albinism, White hair, Premature graying of hair, Retinopathy, Iris hypopigmentation |
ORPHA:79476 |
Glaucoma 3, Primary Congenital, E |
|
Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio |
OMIM:617272 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Optic atrophy, Corneal dystrophy, Developmental cataract |
ORPHA:2572 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79435 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be... |
OMIM:614500 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Optic atrophy, Attenuation of retinal blood vessels |
OMIM:165510 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Iris hypopigmentation, Facial palsy, Abnormality of macular pigmentation, Abno... |
ORPHA:97229 |
Optic Atrophy 2 |
|
Optic atrophy |
OMIM:311050 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant |
|
Optic atrophy |
OMIM:165199 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:2513 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... |
OMIM:610256 |
Optic Atrophy 9 |
|
Optic disc pallor, Optic atrophy |
OMIM:616289 |
Optic Atrophy--Spastic Paraplegia Syndrome |
|
Optic atrophy |
OMIM:311100 |
Idiopathic Panuveitis |
|
Cataract, Choroidal neovascularization, Miosis, Vitreous haze, Vitreous floaters, Epiretinal memb... |
ORPHA:280921 |
Anterior Segment Dysgenesis 4 |
|
Hypoplastic iris stroma, Iris hypopigmentation |
OMIM:137600 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, Aganglionic megacolon, White eyebrow, Blue irides, Hypopigmented skin patches, P... |
OMIM:277580 |
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy |
|
Optic disc pallor, Optic atrophy, Claw hand deformity |
OMIM:618511 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Optic atrophy |
OMIM:136600 |
Phacoanaphylactic Uveitis |
|
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... |
ORPHA:209959 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Optic nerve mis... |
ORPHA:79433 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:611040 |
Progressive Hemifacial Atrophy |
|
Irregular hyperpigmentation, Heterochromia iridis |
ORPHA:1214 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e... |
ORPHA:1473 |
Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Morning glory anoma... |
OMIM:612109 |
Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... |
ORPHA:79432 |
Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Macular atrophy, Attenuation of retinal ... |
OMIM:604393 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Motor axonal neuropathy, Mydriasis |
ORPHA:247815 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Coats Disease |
|
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... |
ORPHA:190 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, External genital hypoplasia, Hypopigment... |
ORPHA:177910 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Cho... |
OMIM:601706 |
Spastic Paraplegia 43, Autosomal Recessive |
|
Optic atrophy, Ankle flexion contracture, Knee flexion contracture |
OMIM:615043 |
Usher Syndrome Type 3 |
|
Cataract, Astigmatism, Iris hypopigmentation |
ORPHA:231183 |
Cataract 21, Multiple Types |
|
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... |
OMIM:610202 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... |
OMIM:616188 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... |
OMIM:204100 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis |
ORPHA:1390 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Leukoencephalopathy With Vanishing White Matter 2 |
|
Cataract, Optic atrophy |
OMIM:620312 |
Iatrogenic Botulism |
|
Orthostatic hypotension, Mydriasis |
ORPHA:254509 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c... |
OMIM:614195 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Premature graying of hair, Heterochromia iridis |
ORPHA:66633 |
Intestinal Botulism |
|
Mydriasis |
ORPHA:178481 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
Usher Syndrome Type 1 |
|
Cataract, Abnormal dental enamel morphology, Iris hypopigmentation |
ORPHA:231169 |
Toxin-Mediated Infectious Botulism |
|
Mydriasis |
ORPHA:230800 |
Retinitis Pigmentosa 71 |
|
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... |
OMIM:616394 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Iris coloboma, Inferior chorioretinal coloboma |
OMIM:614497 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... |
OMIM:618889 |
Glaucoma 1, Open Angle, P |
|
Increased cup-to-disc ratio |
OMIM:177700 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Uv... |
OMIM:193235 |
Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79434 |
3-Methylglutaconic Aciduria Type 4 |
|
Cataract, Iris hypopigmentation |
ORPHA:67048 |
Woolly Hair |
|
Hypopigmentation of hair, Cataract, Abnormal retinal morphology, Abnormal pupil morphology |
ORPHA:170 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent p... |
ORPHA:1067 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Progressive cataract, Optic nerve dysplasia, Developmental cataract |
OMIM:246000 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Perifoveal ring... |
OMIM:600059 |
Charcot-Marie-Tooth Disease Type 1B |
|
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Peripheral dysmyelination, Abn... |
ORPHA:101082 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Premature graying of hair, Numerous p... |
OMIM:193510 |
Woolly Hair Nevus |
|
Precocious puberty, Patchy hypopigmentation of hair, Heterochromia iridis, Persistent pupillary m... |
ORPHA:79414 |
Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp... |
ORPHA:999 |
Sympathetic Ophthalmia |
|
Retinal detachment, Papilledema, Cataract, Vitreous floaters, Poliosis, Vitritis, Retinal hemorrh... |
ORPHA:79098 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism... |
OMIM:300476 |
Proteus-Like Syndrome |
|
Retinal detachment, Thymus hyperplasia, Cataract, Abnormal pupil morphology, Abnormality of the p... |
ORPHA:2969 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Aganglionic megacolon, Hypopigmented skin patches, Premature graying of... |
ORPHA:895 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
Coats Disease |
|
Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... |
OMIM:193220 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration |
OMIM:609021 |
Wound Botulism |
|
Mydriasis |
ORPHA:178475 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Flexion contracture, Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior syn... |
OMIM:613154 |
Phenylketonuria |
|
Fair hair, Generalized hypopigmentation, Cataract, Blue irides |
OMIM:261600 |
Piebald Trait-Neurologic Defects Syndrome |
|
Hypopigmentation of hair, Aganglionic megacolon, Hypopigmented skin patches, Irregular hyperpigme... |
ORPHA:2885 |
Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... |
OMIM:613195 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Methionine Malabsorption Syndrome |
|
White hair, Blue irides |
OMIM:250900 |
Leber Congenital Amaurosis 9 |
|
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... |
OMIM:608553 |
Hec Syndrome |
|
Abnormal retinal vascular morphology, Abnormal pupil morphology, Vaginal hydrocele, Developmental... |
ORPHA:2119 |
Inhalational Botulism |
|
Mydriasis |
ORPHA:254504 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Cryptorchidism, Retinal infarction, Mydriasis |
OMIM:613834 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
Chromosome 16Q12 Duplication Syndrome |
|
Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria |
OMIM:619649 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Spondylo-Ocular Syndrome |
|
Cataract, Retinal detachment, Aplasia/Hypoplasia of the lens, Iris hypopigmentation |
ORPHA:85194 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... |
OMIM:612572 |
Ocular Pigment Dispersion With Or Without Glaucoma |
|
Optic atrophy |
OMIM:600510 |
Waardenburg Syndrome, Type 3 |
|
Aganglionic megacolon, Partial albinism, Camptodactyly of finger, Blue irides, Hypopigmented skin... |
OMIM:148820 |
Autosomal Recessive Spastic Paraplegia Type 45 |
|
Flexion contracture of toe, Optic atrophy, Ankle flexion contracture, Knee flexion contracture |
ORPHA:320396 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... |
OMIM:120200 |
Miller Fisher Syndrome |
|
Anisocoria, Facial palsy, Mydriasis |
ORPHA:98919 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Optic atrophy, Retinal dystrophy |
OMIM:614706 |
Albinism, Oculocutaneous, Type Vii |
|
Iris transillumination defect, Albinism |
OMIM:615179 |
Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv... |
ORPHA:79431 |
Spastic Paraplegia 74, Autosomal Recessive |
|
Peripheral axonal neuropathy, Optic atrophy |
OMIM:616451 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Juvenile Glaucoma |
|
Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion... |
ORPHA:98977 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Cataract, Optic atrophy, Macular degeneration, Rod-cone dystrophy, Retinal degeneration |
OMIM:204200 |
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures |
|
Optic disc pallor, Cerulean cataract |
OMIM:616732 |
Botulism |
|
Mydriasis |
ORPHA:1267 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Retinopathy |
OMIM:616171 |
Hermansky-Pudlak Syndrome 8 |
|
Hypoplasia of the fovea, Optic disc pallor, Albinism, Silver-gray hair, Myopic astigmatism, Ocula... |
OMIM:614077 |
Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Ocular albinism, Blue irides, Hypopigmented skin patches, Prematu... |
OMIM:611584 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante... |
ORPHA:3214 |
Retinitis Pigmentosa |
|
Keratoconus, Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Abnormal retinal... |
ORPHA:791 |
Foodborne Botulism |
|
Mydriasis |
ORPHA:228371 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract |
ORPHA:65 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cataract, Brushfield spots, Cryptorchidism, Optic nerve dysplasia, Pigmentary retinopathy, Hypopl... |
OMIM:214110 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Deafness-Hypogonadism Syndrome |
|
Congenital stationary night blindness, Hypergonadotropic hypogonadism, Heterochromia iridis, Abno... |
ORPHA:90646 |
Leber Congenital Amaurosis 16 |
|
Optic disc pallor, Cataract |
OMIM:614186 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... |
OMIM:618195 |
Infant Botulism |
|
Keratoconjunctivitis sicca, Mydriasis |
ORPHA:178478 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Optic atrophy, Facial palsy, Mydriasis |
OMIM:259720 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori... |
OMIM:602772 |
Hermansky-Pudlak Syndrome 11 |
|
Hypoplasia of the fovea, Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination def... |
OMIM:619172 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Inguinal hernia, Corneal dystrophy, Ectopia pupillae, Corneal guttata |
OMIM:609141 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2246 |
Albinism, Ocular, Type I |
|
Hypoplasia of the fovea, Giant melanosomes in melanocytes, Ocular albinism, Depigmented fundus |
OMIM:300500 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Pigmentary retinopathy, Optic atrophy |
OMIM:610951 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Miosis, Corneal scarring, Bupht... |
OMIM:212550 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Intracranial Hypertension, Idiopathic |
|
Papilledema |
OMIM:243200 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Usher Syndrome, Type Iiib |
|
Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood vessels |
OMIM:614504 |
Congenital Microcoria |
|
Abnormal pupillary light reflex, Developmental cataract, Corneal stromal edema, Iris transillumin... |
ORPHA:566 |
Pituitary Apoplexy |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
ORPHA:95613 |
Tonne-Kalscheuer Syndrome |
|
Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Blue irides, Micropenis, Decreased ... |
OMIM:300978 |
Oculocutaneous Albinism Type 5 |
|
Hypoplasia of the fovea, Ocular albinism, Abnormal fundus morphology |
ORPHA:370091 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract |
ORPHA:35737 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Flat cornea, Macular atrophy, Optic disc coloboma, Microcornea, Shallow anterior chamber, Chorior... |
OMIM:602499 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Aganglionic megacolon, Partial albinism, Piebaldism, Wh... |
OMIM:172800 |
Albinism, Oculocutaneous, Type Ia |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair... |
OMIM:203100 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, Aganglionic megacolon, White eyebrow, Cryptorchidism, Blue irides, Hypopigmented... |
OMIM:613266 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411515 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona... |
OMIM:617087 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Optic atrophy, Sensory axonal neuropathy, Cataract |
ORPHA:329314 |
Cofs Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Camptodactyly of finger, Optic atrophy, Hypogonadi... |
ORPHA:1466 |
Merrf |
|
Multiple lipomas, Optic atrophy |
ORPHA:551 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor... |
ORPHA:3205 |
Serotonin Syndrome |
|
Abnormality of the autonomic nervous system, Mydriasis |
ORPHA:43116 |
Zellweger Syndrome |
|
Cataract, Abnormal chorioretinal morphology, Corneal opacity, Hypospadias, Brushfield spots, Cryp... |
ORPHA:912 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Cataract, Microcornea, Iris transillumination defect, Coloboma, Generalized hypopigmentation |
OMIM:617306 |
Albinism-Deafness Syndrome |
|
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... |
ORPHA:998 |
2Q24 Microdeletion Syndrome |
|
Coloboma, Cataract, Camptodactyly of finger, Abnormality iris morphology |
ORPHA:1617 |
Myopathy, Tubular Aggregate, 1 |
|
Joint contracture, Abnormal pupil morphology, Flexion contracture |
OMIM:160565 |
Microcoria, Congenital |
|
Microcoria, Miosis, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Reduced subcutaneous adipose tissue, External genital hypoplasia, Blue irides, Hypogonadism, Flex... |
ORPHA:3041 |
Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... |
OMIM:617123 |
Craniotubular Dysplasia, Ikegawa Type |
|
Optic nerve compression, Optic atrophy, Optic neuropathy, Mydriasis |
OMIM:619727 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Blue irides |
OMIM:615516 |
Retinitis Pigmentosa 26 |
|
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:608380 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Retinal pigment epithelial mottling, Peripheral axonal neuropathy, Optic disc pallor |
OMIM:619389 |
Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... |
ORPHA:209943 |
Retinitis Pigmentosa 63 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:614494 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hypospadias, Cryptorchidism, Blue irides, Red hair, Fair hair |
OMIM:614613 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy |
OMIM:613862 |
Cone-Rod Dystrophy 17 |
|
Cone/cone-rod dystrophy, Optic disc pallor |
OMIM:615163 |
Amoebic Keratitis |
|
Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor... |
ORPHA:67043 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip... |
OMIM:616469 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme... |
OMIM:613810 |
Hermansky-Pudlak Syndrome 5 |
|
Hypoplasia of the fovea, Iris transillumination defect, Ocular albinism, Albinism |
OMIM:614074 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin... |
OMIM:600132 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... |
OMIM:602482 |
Optic Atrophy 12 |
|
Optic disc pallor, Optic atrophy |
OMIM:618977 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Optic disc pallor, Cataract, Vaginal hernia |
ORPHA:3173 |
Congenital Hydrocephalus |
|
Optic atrophy, Macular hypoplasia, Iris coloboma |
ORPHA:2185 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Iris coloboma, Chorioretinal coloboma |
OMIM:613702 |
Night Blindness, Congenital Stationary, Type 1G |
|
Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy |
OMIM:616389 |
Frontofacionasal Dysplasia |
|
Cataract, Brushfield spots, Microcornea, Limbal dermoid, Iris coloboma |
ORPHA:1791 |
Mucolipidosis Iv |
|
Opacification of the corneal stroma, Optic atrophy, Retinal degeneration, Corneal opacity |
OMIM:252650 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Optic atrophy, Retinal degeneration |
OMIM:614322 |
Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Facial palsy, Mydriasis, Anisocoria, Abnormality of th... |
ORPHA:79138 |
Arachnoid Cyst |
|
Cranial nerve compression, Facial palsy, Mydriasis |
ORPHA:2356 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:609260 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Optic atrophy, Premature graying of hair... |
ORPHA:33445 |
Hermansky-Pudlak Syndrome 9 |
|
Hypopigmentation of the skin, Ocular albinism, Hypopigmentation of the fundus |
OMIM:614171 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Optic atrophy |
ORPHA:2773 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613983 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:180100 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Co... |
ORPHA:2334 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Cataract, White hair, Ocular albinism, Generalized hypopigmentation, Iris hypopigmentation |
ORPHA:2720 |
Wyburn-Mason Syndrome |
|
Retinal vascular malformation, Iris hypopigmentation |
ORPHA:53719 |
Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Leukocoria |
OMIM:219250 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Cataract, Corneal opacity, Inguinal hernia, Cryptorchidism, Ocular albi... |
ORPHA:2719 |
Triple A Syndrome |
|
Generalized hyperpigmentation, Optic atrophy, Anterior hypopituitarism, Iris coloboma, Motor axon... |
ORPHA:869 |
Leber Hereditary Optic Neuropathy |
|
Retinal vascular tortuosity, Optic atrophy, Retinal telangiectasia |
ORPHA:104 |
Retinitis Pigmentosa 66 |
|
Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c... |
OMIM:615233 |
Waardenburg Syndrome, Type 1 |
|
White eyelashes, Partial albinism, White eyebrow, Blue irides, Premature graying of hair, White f... |
OMIM:193500 |
Knobloch Syndrome 1 |
|
Retinal detachment, Optic disc pallor, Band keratopathy, Chorioretinal atrophy, Developmental cat... |
OMIM:267750 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:431329 |
Pontocerebellar Hypoplasia, Type 1E |
|
Elbow flexion contracture, Optic atrophy, Knee flexion contracture |
OMIM:619303 |
Optic Atrophy 6 |
|
Optic atrophy |
OMIM:258500 |
Spastic Paraplegia, Optic Atrophy, And Dementia |
|
Optic disc pallor, Optic atrophy |
OMIM:182830 |
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Papilledema, Retinal arteriolar constriction |
OMIM:124950 |
Acrofrontofacionasal Dysostosis |
|
Bifid scrotum, Hypospadias, Camptodactyly of finger, Brushfield spots, Hypopigmented skin patches |
ORPHA:1784 |
Usher Syndrome Type 2 |
|
Cataract, Abnormal dental enamel morphology, Iris hypopigmentation |
ORPHA:231178 |
Free Sialic Acid Storage Disease |
|
Abnormality of skin pigmentation, Iris hypopigmentation |
ORPHA:834 |
Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... |
ORPHA:448237 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cataract, Decreased nerve conduction velocity, Achilles tendon contracture, Optic atrophy, Rod-co... |
OMIM:612674 |
Griscelli Syndrome Type 2 |
|
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79477 |
Wildervanck Syndrome |
|
Lens subluxation, Pseudopapilledema, Facial palsy |
ORPHA:3456 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, Aganglionic megacolon, White eyebrow, Piebaldism, Hypo... |
ORPHA:2884 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Optic disc pallor, Cataract, Cryptorchidism |
OMIM:613730 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Cataract, F... |
OMIM:609033 |
Edinburgh Malformation Syndrome |
|
Brushfield spots |
ORPHA:1895 |
Familial Dysautonomia |
|
Orthostatic hypotension, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Optic atrop... |
ORPHA:1764 |
Ocular Albinism With Late-Onset Sensorineural Deafness |
|
Ocular albinism |
ORPHA:1000 |
Leukodystrophy, Hypomyelinating, 22 |
|
Optic disc pallor, Astigmatism, Flexion contracture |
OMIM:619328 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:600105 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Short Syndrome |
|
Posterior embryotoxon, Inguinal hernia, Corneal opacity, Abnormal dental enamel morphology, Lipod... |
ORPHA:3163 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy |
OMIM:615434 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My... |
OMIM:152950 |
Angelman Syndrome |
|
Keratoconus, Optic disc pallor, Precocious puberty in females, Optic atrophy, Astigmatism, Fair h... |
ORPHA:72 |
Alternating Hemiplegia Of Childhood |
|
Abnormal autonomic nervous system physiology, Mydriasis |
ORPHA:2131 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Coloboma, Optic atrophy |
OMIM:274270 |
Chromosome Xp11.3 Deletion Syndrome |
|
Cataract, Cryptorchidism, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, ... |
OMIM:300578 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Rod-cone dystrophy, Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remye... |
OMIM:311070 |
Infantile-Onset Spinocerebellar Ataxia |
|
Abnormality of the autonomic nervous system, Optic atrophy |
ORPHA:1186 |
Usher Syndrome, Type 1M |
|
Drusen, Optic disc pallor |
OMIM:618632 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Optic disc pallor, Retinal dystrophy |
OMIM:616079 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Cataract, Camptodactyly of finger, Flexion contracture, Optic atrophy, Retinal dysplasia |
ORPHA:272 |
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
|
Astigmatism, Optic atrophy |
OMIM:248000 |
Retinitis Pigmentosa 78 |
|
Optic disc pallor, Cystoid macular edema |
OMIM:617433 |
Pierson Syndrome |
|
Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloid vascular system, Hypoplasia... |
OMIM:609049 |
8Q21.11 Microdeletion Syndrome |
|
Hypoplasia of penis, Cataract, Corneal opacity, Camptodactyly of finger, Sclerocornea, Cryptorchi... |
ORPHA:284160 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Foot joint contracture, Decreased nerve conduction velocity, Cryptorchidism, Optic atrophy, Abnor... |
ORPHA:457205 |
Macular Dystrophy With Central Cone Involvement |
|
Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo... |
OMIM:616170 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, Aganglionic megacolon, White eyebrow, White hair, Hypo... |
ORPHA:894 |
Retinoblastoma |
|
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Uveiti... |
ORPHA:790 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Papilledema, Abnormality of retinal pigmentation, Nongranulomatous uveitis, Choroidal neovascular... |
ORPHA:91500 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Cataract, Partial albinism, Abnormal dental enamel morphology, Ocular a... |
ORPHA:79430 |
Warburg Micro Syndrome 1 |
|
External genital hypoplasia, Cryptorchidism, Optic atrophy, Developmental cataract, Microcornea |
OMIM:600118 |
Striatonigral Degeneration, Infantile |
|
Optic atrophy |
OMIM:271930 |
Lissencephaly 5 |
|
Cataract, Optic atrophy |
OMIM:615191 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Hyperpigmentation of the skin, Optic atrophy, Anisocoria, Abnormal auton... |
OMIM:231550 |
Isolated Ectopia Lentis |
|
Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
Griscelli Syndrome |
|
Silver-gray hair, White hair, Hypopigmented skin patches, Premature graying of hair, Iris hypopig... |
ORPHA:381 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology, Aganglionic megacolon |
ORPHA:2151 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Optic disc pallor, Retinal thinning |
OMIM:618970 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98795 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Abnormal iris pigmentation |
OMIM:132900 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Scarring alopecia of scalp, Optic atrophy, Ectopia pupillae, Astigmatism, Enamel hypopl... |
OMIM:618727 |
Alexander Disease |
|
Microcoria |
OMIM:203450 |
Spinocerebellar Ataxia 7 |
|
Macular degeneration, Optic atrophy, Pigmentary retinopathy |
OMIM:164500 |
Glaucoma 1, Open Angle, F |
|
Increased cup-to-disc ratio |
OMIM:603383 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Cataract, Hypospadias, Brushfield spots, Cryptorchidism, Pigmentary retinopath... |
OMIM:214100 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cataract, Hypospadias, Brushfield spots, Cryptorchidism, Optic nerve dysplasia, Optic atrophy, Pi... |
OMIM:614866 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria |
ORPHA:2714 |
Srd5A3-Cdg |
|
Cataract, Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Optic atr... |
ORPHA:324737 |
Waardenburg Syndrome |
|
Hypopigmentation of hair, Aganglionic megacolon, Hypopigmented skin patches, Abnormality of skin ... |
ORPHA:3440 |
Hermansky-Pudlak Syndrome 4 |
|
Hypoplasia of the fovea, Ocular albinism, Albinism |
OMIM:614073 |
Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... |
ORPHA:96125 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Joint contracture, Cataract, Optic atrophy |
OMIM:617481 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Mydriasis |
OMIM:619351 |
Mitochondrial Complex I Deficiency, Nuclear Type 34 |
|
Optic disc pallor, Optic atrophy |
OMIM:618776 |
Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina |
OMIM:615973 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... |
ORPHA:85167 |
X-Linked Intellectual Disability, Najm Type |
|
Cataract, Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma |
ORPHA:163937 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
Unilateral Ocular Duplication |
|
Microcornea, Abnormal pupil morphology, Iris coloboma |
ORPHA:3374 |
Optic Atrophy 5 |
|
Optic disc pallor, Optic atrophy |
OMIM:610708 |
Leber Congenital Amaurosis 14 |
|
Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy |
OMIM:613341 |
Attenuated Chédiak-Higashi Syndrome |
|
Generalized hypopigmentation, Ocular albinism |
ORPHA:352723 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration |
OMIM:602271 |
Chediak-Higashi Syndrome |
|
Hypopigmentation of hair, Decreased nerve conduction velocity, Silver-gray hair, Ocular albinism,... |
OMIM:214500 |
Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Retinal vascular malformation, Ect... |
ORPHA:42775 |
Noonan Syndrome 13 |
|
Cryptorchidism, Cafe-au-lait spot, Blue irides, Multiple lentigines |
OMIM:619087 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormality iris morphology,... |
ORPHA:370959 |
Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411511 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Cryptorchidism, Optic atrophy, Blue irides, Melanocytic nevus, Hypogonadism, Decreased growth hor... |
OMIM:101800 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... |
OMIM:601552 |
X-Linked Spinocerebellar Ataxia Type 3 |
|
Optic atrophy |
ORPHA:85297 |
Duane Retraction Syndrome |
|
Central heterochromia, Patchy hypopigmentation of hair, Optic disc hypoplasia, Abnormal pupil mor... |
ORPHA:233 |
Spastic Paraplegia 75, Autosomal Recessive |
|
Astigmatism, Optic atrophy |
OMIM:616680 |
Nephronophthisis 11 |
|
Anisocoria, Retinal degeneration |
OMIM:613550 |
Spastic Paraplegia 5A, Autosomal Recessive |
|
Cataract, Optic atrophy |
OMIM:270800 |
Cocaine Intoxication |
|
Mydriasis |
ORPHA:90068 |
Retinitis Pigmentosa 74 |
|
Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:616562 |
Neonatal Adrenoleukodystrophy |
|
Abnormality of retinal pigmentation, Cataract, Optic atrophy |
ORPHA:44 |
Developmental And Epileptic Encephalopathy 93 |
|
Optic atrophy, Iris coloboma |
OMIM:618012 |
Congenital Fibrosis Of Extraocular Muscles |
|
Cataract, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Miosis, Anisocoria, Abnormal pup... |
ORPHA:45358 |
Lissencephaly 8 |
|
Cataract, Optic atrophy |
OMIM:617255 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Early-Onset X-Linked Optic Atrophy |
|
Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy |
ORPHA:98890 |
Warburg Micro Syndrome 3 |
|
Cataract, Small scrotum, Miosis, Hypoplastic labia minora, Flexion contracture, Optic atrophy, De... |
OMIM:614222 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Hypospadias, Sclerocornea, Precocious puberty, Microcornea, Coloboma, Ectopia pupillae |
OMIM:615877 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Rod-cone dys... |
OMIM:268315 |
Jalili Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Abnormal dental enamel morphology, Amelogenes... |
ORPHA:1873 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypoplasia, Cryptorchidism, ... |
ORPHA:496790 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Rieger anomaly, Hypospadias, Decreased response to growth hormone stimulation test, Polycoria, Mi... |
OMIM:180500 |
Hermansky-Pudlak Syndrome 6 |
|
Albinism, Ocular albinism, Absent foveal reflex, Macular hypoplasia, Hypopigmentation of the skin |
OMIM:614075 |
Harel-Yoon Syndrome |
|
Peripheral axonal neuropathy, Optic atrophy, Developmental cataract, Corneal opacity |
OMIM:617183 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea |
OMIM:251750 |
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia |
|
Peripheral axonal neuropathy, Optic atrophy |
OMIM:620221 |
Prune1-Related Neurological Syndrome |
|
Retinopathy, Cataract, Optic atrophy |
ORPHA:544469 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Small scrotum, Hypogonadotropic hypogonadism, Decreased response to gro... |
ORPHA:98754 |
Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
Walker-Warburg Syndrome |
|
Retinal detachment, Hypoplasia of penis, Cataract, Retinal dystrophy, Chorioretinal dysplasia, Co... |
ORPHA:899 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Optic disc coloboma, Microcornea, Retinoschisis, Heterochromia iridis, Iris coloboma |
ORPHA:2995 |
Distal Deletion 13Q |
|
Ambiguous genitalia, Optic atrophy, Iris coloboma |
ORPHA:1590 |
Warburg Micro Syndrome 4 |
|
Decreased motor nerve conduction velocity, Small scrotum, Cryptorchidism, Flexion contracture, Op... |
OMIM:615663 |
Juvenile Xanthogranuloma |
|
Multiple cafe-au-lait spots, Iritis, Uveitis, Asymmetry of iris pigmentation |
ORPHA:158000 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Small scrotum, Hypogonadotropic hypogonadism, Decreased response to gro... |
ORPHA:98793 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, White eyelashes, Aganglionic megacolon, White eyebrow, Short... |
OMIM:609136 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,... |
OMIM:613843 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Cataract, Macular coloboma, Abnormal auditory evoked potentials, Macular atrop... |
OMIM:619260 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of hair, Small scrotum, Hypogonadotropic hypogonadism, Decreased response to gro... |
ORPHA:177904 |
Diencephalic Syndrome |
|
Long penis, Optic atrophy |
ORPHA:1672 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of hair, Small scrotum, Hypogonadotropic hypogonadism, Decreased response to gro... |
ORPHA:177901 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Hypogonadotropic hypogonadism, Supernumerary nipple, Optic a... |
ORPHA:1173 |
Scorpion Envenomation |
|
Miosis, Mydriasis |
ORPHA:466677 |
Noonan Syndrome 4 |
|
Cryptorchidism, Blue irides |
OMIM:610733 |
Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Corneal opacity, Cataract, Pr... |
ORPHA:636 |
Pontocerebellar Hypoplasia, Type 16 |
|
Cataract, Optic atrophy |
OMIM:619527 |
4H Leukodystrophy |
|
Cataract, Optic atrophy, Decreased response to growth hormone stimulation test, Hypogonadotropic ... |
ORPHA:289494 |
Warburg Micro Syndrome 2 |
|
Small scrotum, Cataract, Cryptorchidism, Flexion contracture, Optic atrophy, Developmental catara... |
OMIM:614225 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Infantile Refsum Disease |
|
Rod-cone dystrophy, Optic atrophy, Facial palsy, Cataract |
ORPHA:772 |
Angelman Syndrome |
|
Fair hair, Hypopigmentation of the skin, Blue irides |
OMIM:105830 |
Nail-Patella Syndrome |
|
Contracture of the distal interphalangeal joint of the fingers, Achilles tendon contracture, Flex... |
ORPHA:2614 |
Retinoblastoma |
|
Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma, Pinealoma |
OMIM:180200 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98794 |
Crouzon Syndrome |
|
Optic atrophy, Hypopigmented skin patches, Melanocytic nevus, Conjunctivitis, Iris coloboma |
ORPHA:207 |
Trisomy 13 |
|
Cataract, Abnormal retinal vascular morphology, Cryptorchidism, Optic atrophy, Aplasia/Hypoplasia... |
ORPHA:3378 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Small scrotum, Hypogonadotropic hypogonadism, Decreased response to gro... |
OMIM:176270 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Optic disc pallor, Optic atrophy |
OMIM:612989 |
Joubert Syndrome 28 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:617121 |
Hermansky-Pudlak Syndrome 7 |
|
Ocular albinism, Albinism |
OMIM:614076 |
Norrie Disease |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o... |
ORPHA:649 |
Congenital Disorder Of Glycosylation, Type Id |
|
Flexion contracture, Optic atrophy, Arthrogryposis multiplex congenita, Joint contracture of the ... |
OMIM:601110 |
Pelvis-Shoulder Dysplasia |
|
Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Cataract, Cryptorchidism, Optic atrophy, Microcornea, Vaginal atresia, Iri... |
ORPHA:3301 |
Rere-Related Neurodevelopmental Syndrome |
|
Hypospadias, Cryptorchidism, Optic atrophy, Astigmatism, Chorioretinal coloboma, Peters anomaly, ... |
ORPHA:494344 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy |
ORPHA:440727 |
Canavan Disease |
|
Abnormality of retinal pigmentation, Flexion contracture, Optic atrophy |
ORPHA:141 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Abnormality of skin pigmentation, Coloboma, Cataract, Optic atrophy |
OMIM:612379 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Retinal arteriolar constriction, Optic atrophy |
OMIM:249660 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Astigmatism, Abnormal auditory evoked potentials |
OMIM:617523 |
Achromatopsia 2 |
|
Hypoplasia of the fovea, Retinal thinning, Myopic astigmatism, Absent foveal reflex, Peripapillar... |
OMIM:216900 |
Micro Syndrome |
|
Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Cryptorchidism, Hypoplastic l... |
ORPHA:2510 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... |
OMIM:614643 |
Stt3B-Cdg |
|
Cryptorchidism, Micropenis, Small scrotum, Optic atrophy |
ORPHA:370924 |
Charcot-Marie-Tooth Disease Type 1E |
|
Decreased nerve conduction velocity, Abnormal pupil morphology, Anisocoria, Tonic pupil, Joint co... |
ORPHA:90658 |
Muscle-Eye-Brain Disease |
|
Cataract, Optic atrophy |
ORPHA:588 |
Optic Atrophy 8 |
|
Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials |
OMIM:616648 |
Trichinellosis |
|
Facial palsy, Retinal hemorrhage, Central retinal artery occlusion, Anisocoria, Abnormal optic ne... |
ORPHA:863 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Cryptorchidism, Micropenis, Small scrotum, Optic atrophy |
OMIM:615597 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
Null Syndrome |
|
Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination, Abnormality of peri... |
ORPHA:280234 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Len... |
OMIM:619539 |
Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
ORPHA:99949 |
Koolen-De Vries Syndrome |
|
Fair hair, Cryptorchidism, Cataract, Iris hypopigmentation |
OMIM:610443 |
Revesz Syndrome |
|
Leukocoria, Exudative retinopathy, Megalocornea, Fine, reticulate skin pigmentation |
OMIM:268130 |
Vitamin K Antagonist Embryofetopathy |
|
Cataract, Optic atrophy |
ORPHA:1914 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Inguinal hernia, Cataract, Corneal opacity, Optic atrophy, Developmental... |
ORPHA:93400 |
Cataract 16, Multiple Types |
|
Posterior polar cataract, Lenticonus, Retinal dystrophy, Developmental cataract |
OMIM:613763 |
Wolfram Syndrome 1 |
|
Pigmentary retinopathy, Cataract, Optic atrophy, Testicular atrophy |
OMIM:222300 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology, Optic atroph... |
ORPHA:2715 |
Optic Pathway Glioma |
|
Precocious puberty, Papilledema, Neurofibroma, Optic atrophy |
ORPHA:2086 |
Juvenile Sialidosis Type 2 |
|
Inguinal hernia, Cataract, Corneal opacity, Optic atrophy, Umbilical hernia, Cherry red spot of t... |
ORPHA:93399 |
Wildervanck Syndrome |
|
Pseudopapilledema |
OMIM:314600 |
Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased response to growth hormone sti... |
ORPHA:177907 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... |
OMIM:203300 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cataract, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy, Hypogonadis... |
OMIM:610651 |
Amaurosis-Hypertrichosis Syndrome |
|
Cone/cone-rod dystrophy, Optic atrophy, Retinal dystrophy |
ORPHA:1021 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Cryptorchidism, Optic atrophy, Retinal degeneration |
OMIM:249270 |
Trisomy 9P |
|
Abnormal pupil morphology |
ORPHA:236 |
Alagille Syndrome |
|
Keratoconus, Cryptorchidism, Abnormal pupil morphology, Corneal dystrophy |
ORPHA:52 |
Chédiak-Higashi Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Decreased nerve conduction velocit... |
ORPHA:167 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Abnormal optic disc morphology, Decreased corneal ... |
ORPHA:293967 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hypopigmentation of hair, Aganglionic megacolon, Hypopigmented skin patches, Premature graying of... |
ORPHA:163746 |
Vici Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Optic atrophy, Hypopigmentation of the skin, Abnor... |
ORPHA:1493 |
Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Optic atrophy, Abnormality of per... |
ORPHA:585 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Flexion contracture, Optic atrophy, Sensory axonal neuropathy, Motor axonal ne... |
OMIM:609541 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal opacity, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhage, Developmental cata... |
OMIM:175780 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Retinal atrophy, Corneal opacity, Optic nerve hypoplasia, Cataract, Cryptorch... |
OMIM:236670 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology... |
ORPHA:1215 |
Plague |
|
Conjunctival hyperemia, Mydriasis |
ORPHA:707 |
Opticocochleodentate Degeneration |
|
Optic atrophy |
OMIM:258700 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... |
ORPHA:320406 |
1Q41Q42 Microdeletion Syndrome |
|
Cryptorchidism, Hypergonadotropic hypogonadism, Abnormality iris morphology, Congenital diaphragm... |
ORPHA:250999 |
Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h... |
ORPHA:637 |
Nail-Patella Syndrome |
|
Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign |
OMIM:161200 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Chorioretinal dystrophy, Optic atrophy, Microcornea, Abnormal optic nerve morphology, Choroiderem... |
ORPHA:2707 |
Phace Association |
|
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental cataract, Increased retinal... |
OMIM:606519 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Retinal detachment, Cataract, Scarring, Supernumerary nipple, Retinal va... |
OMIM:308300 |
Juvenile Paget Disease |
|
Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus |
ORPHA:2801 |
Cutis Marmorata Telangiectatica Congenita |
|
Multiple cafe-au-lait spots, Retinal detachment, Displacement of the urethral meatus, Leukocoria |
ORPHA:1556 |
Bardet-Biedl Syndrome 20 |
|
Papilledema, Bilateral cryptorchidism, Astigmatism, Retinal vascular tortuosity, Male hypogonadis... |
OMIM:619471 |
Alpha-Mannosidosis, Adult Form |
|
Optic disc pallor, Cataract, Corneal opacity |
ORPHA:309288 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria |
ORPHA:289483 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Omphalocele, Papilledema, Premature thelarche, Polycystic ovaries, Nodular goiter, Pterygium, Iri... |
ORPHA:371428 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Optic atrophy, Opto-chiasmatic atrophy, Cataract |
OMIM:620089 |
Leber Optic Atrophy |
|
Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic atrophy, Optic neuropathy |
OMIM:535000 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Retinal dystrophy, Macular coloboma, Aplasia/Hypoplasia of the optic nerve, Sl... |
ORPHA:423479 |
Cinca Syndrome |
|
Papilledema, Uveitis |
OMIM:607115 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Iris flocculi |
OMIM:611788 |
Stankiewicz-Isidor Syndrome |
|
Hypospadias, Cryptorchidism, Pineal cyst, Abnormal optic disc morphology, Shawl scrotum, Micropenis |
OMIM:617516 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Optic atrophy, Macular hypoplasia, Iris coloboma, Chorioretinal coloboma |
OMIM:615219 |
Trisomy 8P |
|
Multiple joint contractures, Cryptorchidism, Annular pancreas, Astigmatism, Aplasia/Hypoplasia of... |
ORPHA:264450 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
Vici Syndrome |
|
Hypopigmentation of hair, Cataract, Macular atrophy, Albinism, Ocular albinism, Developmental cat... |
OMIM:242840 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Ocular albinism |
ORPHA:1352 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cataract, Buphthalmos, Congenital contracture, Persistent pupillary membrane, Peters anomaly |
OMIM:613150 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Inguinal hernia, Absence of Stensen duct, Decreased response to growth hormone stimulation test, ... |
OMIM:129900 |
Hermansky-Pudlak Syndrome 10 |
|
Ocular albinism, Albinism |
OMIM:617050 |
Mitochondrial Complex I Deficiency, Nuclear Type 27 |
|
Optic atrophy |
OMIM:618248 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Cataract, Foot joint contracture, Hypermelanotic macule, Sca... |
ORPHA:90321 |
Proteus Syndrome |
|
Central heterochromia, Abnormality of skin pigmentation, Chorioretinal coloboma, Abnormal dental ... |
ORPHA:744 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Ambiguous genitalia, Cataract, Optic atrophy, Clitoral hypertrophy |
ORPHA:543470 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Hypogonadotropic ... |
OMIM:604292 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microcornea, Cataract, Persistent pupillary membrane |
OMIM:257850 |
Jacobsen Syndrome |
|
Hypospadias, Cryptorchidism, Flexion contracture, Optic atrophy, Microcornea, Clitoral hypoplasia... |
OMIM:147791 |
Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Remnants of the hyaloid vascular system, Optic nerve hypoplasi... |
OMIM:603671 |
Osteopetrosis, Autosomal Recessive 4 |
|
Optic disc pallor, Optic atrophy, Facial palsy |
OMIM:611490 |
Xfe Progeroid Syndrome |
|
Absence of subcutaneous fat, Optic atrophy, Corneal scarring, Enamel hypoplasia, Attenuation of r... |
OMIM:610965 |
Crouzon Syndrome |
|
Keratitis, Conjunctivitis, Optic atrophy, Dysgerminoma |
OMIM:123500 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal lens morphology, Abnormal optic disc morphology, Optic atrophy |
ORPHA:363417 |
Halperin-Birk Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Optic atrophy, Development... |
OMIM:618651 |
Atelis Syndrome 2 |
|
Vitreous hemorrhage, Remnants of the hyaloid vascular system, Developmental cataract |
OMIM:620185 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Retinal detachment, Cataract, Flexion contracture, Optic atrophy, Retinal dysplasia |
OMIM:253800 |
Oculocerebrorenal Syndrome Of Lowe |
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Hyperparathyroidism, Cataract, Corneal opacity, Chorioretinal dysplasia, Abnormal dental enamel m... |
ORPHA:534 |
Hermansky-Pudlak Syndrome 2 |
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Aberrant melanosome maturation, Albinism, Ocular albinism, Generalized hypopigmentation, Fair hair |
OMIM:608233 |
Gapo Syndrome |
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Keratoconus, Facial palsy, Retinal arteriolar tortuosity, Optic atrophy, Shallow anterior chamber... |
OMIM:230740 |
Classic Homocystinuria |
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Retinal detachment, Abnormality of retinal pigmentation, Cataract, Ectopia lentis, Optic atrophy,... |
ORPHA:394 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Retinal cotton wool spot, Abnormal retinal vascular morphology, Retinal neovascularization, Macul... |
ORPHA:247691 |
Aicardi Syndrome |
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Retinal detachment, Abnormality of retinal pigmentation, Hiatus hernia, Precocious puberty, Optic... |
ORPHA:50 |
Kenny-Caffey Syndrome, Type 2 |
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Retinal calcification, Papilledema, Hypoparathyroidism, Developmental cataract |
OMIM:127000 |
Williams Syndrome |
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Hypoplasia of penis, Flat cornea, Cataract, Corneal opacity, Hypogonadotropic hypogonadism, Abnor... |
ORPHA:904 |
Cerebrotendinous Xanthomatosis |
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Optic disc pallor, Cataract, Cholelithiasis, Abnormality of central somatosensory evoked potentials |
OMIM:213700 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
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Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot... |
OMIM:616959 |
Collagenoma, Familial Cutaneous |
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Iris atrophy, Primary testicular failure |
OMIM:115250 |
Meckel Syndrome |
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Cataract, Abnormal chorioretinal morphology, True hermaphroditism, Sclerocornea, Pancreatic fibro... |
ORPHA:564 |
Cockayne Syndrome A |
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Reduced subcutaneous adipose tissue, Hip contracture, Retinal atrophy, Cataract, Abnormal periphe... |
OMIM:216400 |
Combined Oxidative Phosphorylation Deficiency 29 |
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Retinopathy, Axonal degeneration, Optic atrophy, Optic neuropathy |
OMIM:616811 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
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Inguinal hernia, Supernumerary nipple, Cryptorchidism, Anisocoria, Micropenis |
OMIM:618653 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
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Anisocoria, Orthostatic hypotension |
OMIM:615510 |
Microphthalmia, Syndromic 2 |
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Retinal detachment, Remnants of the hyaloid vascular system, Hypospadias, Septate vagina, Cryptor... |
OMIM:300166 |
Scalp-Ear-Nipple Syndrome |
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Cataract, Developmental cataract, Anisocoria, Multiple lipomas, Breast aplasia, Iris coloboma |
OMIM:181270 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
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Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
De Sanctis-Cacchione Syndrome |
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Hypermelanotic macule, Keratitis, Bilateral cryptorchidism, Axonal degeneration, Optic atrophy, G... |
OMIM:278800 |
Cockayne Syndrome B |
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Reduced subcutaneous adipose tissue, Abnormal peripheral myelination, Abnormal auditory evoked po... |
OMIM:133540 |
Ramon Syndrome |
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Axenfeld anomaly, Optic disc pallor, Pigmentary retinopathy, Enlarged labia minora |
OMIM:266270 |
Papilloma Of Choroid Plexus |
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Papilledema |
OMIM:260500 |
Joubert Syndrome 8 |
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Optic disc pallor, Pigmentary retinopathy |
OMIM:612291 |
Down Syndrome |
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Brushfield spots, Aganglionic megacolon |
OMIM:190685 |
Xq21 Microdeletion Syndrome |
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Abnormal chorioretinal morphology, Decreased response to growth hormone stimulation test, Chorior... |
ORPHA:1435 |
Oculodentodigital Dysplasia |
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Cataract, Abnormal dental enamel morphology, Camptodactyly of finger, Optic atrophy, Abnormality ... |
ORPHA:2710 |
Cockayne Syndrome |
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Miosis, Congenital contracture, Retinal arteriolar constriction, Lentiglobus, Retinal degeneratio... |
ORPHA:191 |
Xeroderma Pigmentosum |
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Conjunctival telangiectasia, Cataract, Hypermelanotic macule, Keratitis, Cryptorchidism, Optic at... |
ORPHA:910 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
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Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin... |
ORPHA:2526 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Retinal atrophy, Cataract, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the retina, Retina... |
OMIM:253280 |
Hyperoxaluria, Primary, Type I |
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Choroidal neovascularization, Optic neuropathy, Retinal crystals, Optic atrophy, Retinopathy |
OMIM:259900 |
Acrofrontofacionasal Dysostosis 1 |
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Iris atrophy, Optic atrophy |
OMIM:201180 |
Autosomal Dominant Optic Atrophy And Cataract |
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Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulean cataract, Anterior... |
ORPHA:67036 |
Cockayne Syndrome Type 3 |
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Optic disc pallor, Peripheral axonal neuropathy, Retinal atrophy, Retinal dystrophy, Cataract, Fl... |
ORPHA:90324 |
Cancer-Associated Retinopathy |
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Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ... |
ORPHA:71505 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Papilledema, Developmental cataract, Retinal calcification, Congenital hypoparathyroidism, Decrea... |
ORPHA:93325 |
Superficial Siderosis |
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Anisocoria, Abnormality of the brachial nerve plexus, Abnormality of the vestibulocochlear nerve |
ORPHA:247245 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
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Hip contracture, Hypospadias, Optic atrophy, Knee flexion contracture, Chorioretinal coloboma, Mi... |
OMIM:210730 |
Aicardi Syndrome |
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Retinal detachment, Cataract, Hiatus hernia, Precocious puberty, Chorioretinal lacunae, Optic dis... |
OMIM:304050 |
Mowat-Wilson Syndrome |
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Bifid scrotum, Cataract, Aganglionic megacolon, Hypospadias, Supernumerary nipple, Cryptorchidism... |
OMIM:235730 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
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Conjunctival telangiectasia, Optic atrophy |
ORPHA:95433 |
Von Hippel-Lindau Disease |
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Neoplasm of the pancreas, Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic i... |
ORPHA:892 |
Williams-Beuren Syndrome |
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Inguinal hernia, Retinal arteriolar tortuosity, Flexion contracture, Blue irides, Premature grayi... |
OMIM:194050 |
Holoprosencephaly 2 |
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Remnants of the hyaloid vascular system, Chorioretinal coloboma, Cyclopia, Iris coloboma, Anterio... |
OMIM:157170 |
1P36 Deletion Syndrome |
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Hypoplasia of penis, Cataract, Hypospadias, Camptodactyly of finger, Cryptorchidism, Optic atroph... |
ORPHA:1606 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
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Cataract, Optic atrophy |
ORPHA:314404 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Hypospadias, Optic nerve hypoplasia, Facial palsy, Coloboma, Abnormal optic disc morphology, Reti... |
ORPHA:508498 |
Osteoporosis-Pseudoglioma Syndrome |
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Iris atrophy, Cataract, Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Absent a... |
OMIM:259770 |
7Q11.23 Microduplication Syndrome |
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Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal optic dis... |
ORPHA:96121 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Bifid scrotum, Abnormal pupil morphology, Flexion contracture, Microcornea, Webbed penis, Micrope... |
ORPHA:261552 |
Pagod Syndrome |
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Omphalocele, Congenital diaphragmatic hernia, Optic atrophy, Agonadism, Abnormality of the uterus... |
ORPHA:991 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
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Hypoparathyroidism, Septate vagina, Uterus didelphys, Aplasia of the vagina, Pseudopapilledema, A... |
OMIM:146255 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Retinal dystrophy, Optic nerve hypoplasia, Flexion contracture, Optic atrophy, Hypoplasia of the ... |
OMIM:619321 |
Wolfram Syndrome 2 |
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Optic atrophy, Optic neuropathy |
OMIM:604928 |
Dyskeratosis Congenita, X-Linked |
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Cataract, Hypospadias, Phimosis, Reticulated skin pigmentation, Cryptorchidism, Optic atrophy, Pr... |
OMIM:305000 |
Wolf-Hirschhorn Syndrome |
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Rieger anomaly, Hypospadias, Precocious puberty, Cryptorchidism, Ectopia pupillae, Aplasia of the... |
OMIM:194190 |
Witteveen-Kolk Syndrome |
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Inguinal hernia, Cataract, Hypospadias, Decreased response to growth hormone stimulation test, Un... |
OMIM:613406 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
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Retinal dystrophy, Hypospadias, Supernumerary nipple, Subretinal deposits, Abnormal optic disc mo... |
ORPHA:397715 |
Alzahrani-Kuwahara Syndrome |
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Optic disc pallor, Cataract, Hypospadias, Astigmatism, Hyperpigmentation of the skin |
OMIM:619268 |
Neurocardiofaciodigital Syndrome |
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Optic disc pallor, Cataract, Sclerocornea |
OMIM:619869 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Inguinal hernia, Abnormality of connective tissue, Abnormality iris morphology |
ORPHA:91387 |
Leptospirosis |
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Papilledema, Retinal hemorrhage, Uveitis, Chorioretinitis, Optic neuritis, Macular cotton wool sp... |
ORPHA:509 |
Pontocerebellar Hypoplasia Type 7 |
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Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, Microphallus, Absen... |
ORPHA:284339 |
Vascular Ehlers-Danlos Syndrome |
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Keratoconus, Inguinal hernia, Hypospadias, Cryptorchidism, Abnormal pupil morphology, Cystocele, ... |
ORPHA:286 |
Sponastrime Dysplasia |
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Cataract, Hypospadias, Precocious puberty, Microcoria, Congenital aphakia |
ORPHA:93357 |