Tietz Albinism-Deafness Syndrome |
|
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis, ... |
OMIM:103500 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Hypoplasia of the fovea, Epicanthus, Optic atrophy, Upslanted palpebral fissure, Iris cyst, Ptosis |
OMIM:620086 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Horner Syndrome, Congenital |
|
Congenital Horner syndrome, Deeply set eye, Heterochromia iridis |
OMIM:143000 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Retinal detachment, Macular coloboma, Sclerocornea, Hypertelorism, Microcornea, Narrow palpebral ... |
OMIM:615145 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, Telecanthus, Hypermelanotic macule, White hair, Blue irides, Premat... |
OMIM:619947 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent p... |
ORPHA:1067 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Progressive Hemifacial Atrophy |
|
Deeply set eye, Irregular hyperpigmentation, Heterochromia iridis, Ptosis |
ORPHA:1214 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Epiretinal membrane, Opacification of the corneal stroma |
OMIM:148200 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Miosis, Mosaic corneal dystrophy, Deep anterior chamb... |
OMIM:309300 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Microphthalmia, Syndromic 16 |
|
Ankyloblepharon, Sclerocornea |
OMIM:611038 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... |
ORPHA:98957 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Macular dystrophy, Corneal dystrophy, Recurrent corneal ero... |
OMIM:217800 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hy... |
ORPHA:2334 |
Uveal Melanoma |
|
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... |
ORPHA:39044 |
Vernal Keratoconjunctivitis |
|
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... |
ORPHA:70476 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... |
OMIM:604229 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Corneal Dystrophy, Band-Shaped |
|
Band-shaped corneal dystrophy |
OMIM:217500 |
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy |
|
Punctate corneal dystrophy |
OMIM:183850 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Iris hypo... |
OMIM:126070 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Albinism, Blue irides, Macular hypoplasia, Hypopigmentation of the fundus |
OMIM:606574 |
Galactosialidosis |
|
Cherry red spot of the macula, Corneal opacity |
ORPHA:351 |
Oculocutaneous Albinism Type 6 |
|
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma... |
ORPHA:370097 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s... |
ORPHA:163934 |
Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Isolated Ectopia Lentis |
|
Hypertension, Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Hypertelorism, Hypoplasia of the iris, Ectopia pupillae, Posterior synechiae of the anterior cham... |
OMIM:602482 |
Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... |
ORPHA:83461 |
Bilateral Acute Depigmentation Of The Iris |
|
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... |
ORPHA:69736 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e... |
ORPHA:1473 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Intestinal Botulism |
|
Ptosis, Mydriasis |
ORPHA:178481 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions, Iris hypopigmentation |
ORPHA:99000 |
Toxin-Mediated Infectious Botulism |
|
Ptosis, Mydriasis |
ORPHA:230800 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Palpebral edema, Corneal opacity, Corneal dystrophy, Corneal erosion, Opacification of the cornea... |
OMIM:608470 |
Oculocutaneous Albinism, Type Viii |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Iris transillumination defect, Chorioretinal h... |
OMIM:619165 |
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet |
|
Posterior corneal stroma punctiform multicolored opacities |
OMIM:619871 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Epicanthus, Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Long eyelashes, Cryptophthalmos |
OMIM:615877 |
Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
Wound Botulism |
|
Ptosis, Cardiac arrest, Mydriasis |
ORPHA:178475 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Optic pit, Iris coloboma, Chorioretinal coloboma |
OMIM:616428 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Iatrogenic Botulism |
|
Ptosis, Orthostatic hypotension, Mydriasis |
ORPHA:254509 |
Intellectual Developmental Disorder, Autosomal Recessive 50 |
|
Heterochromia iridis |
OMIM:616460 |
Dermochondrocorneal Dystrophy |
|
Corneal dystrophy |
ORPHA:79149 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Cystinosis, Adult Nonnephropathic |
|
Abnormal retinal morphology, Corneal crystals |
OMIM:219750 |
Distal Deletion 6P |
|
Posterior embryotoxon, Epicanthus, Corneal opacity, Hypertelorism, Hypoplasia of the iris, Anteri... |
ORPHA:96125 |
Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
Woolly Hair |
|
Hypopigmentation of hair, Cataract, Abnormal retinal morphology, Abnormal pupil morphology, Spars... |
ORPHA:170 |
8Q21.11 Microdeletion Syndrome |
|
Epicanthus, Cataract, Corneal opacity, Iris hypopigmentation, Sclerocornea, Hypertelorism, Blepha... |
ORPHA:284160 |
Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c... |
OMIM:612109 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Cataract 21, Multiple Types |
|
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... |
OMIM:610202 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals |
OMIM:210370 |
Oculocutaneous Albinism Type 1 |
|
Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr... |
ORPHA:352731 |
Kleeblattschaedel |
|
Proptosis, Recurrent corneal erosions |
OMIM:148800 |
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome |
|
Iris hypopigmentation |
ORPHA:85332 |
Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Retinal dystrophy, Sclerocornea, Microcornea, Chorioretinal coloboma, Iris coloboma |
ORPHA:139471 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Retinopathy, Corneal crystals |
OMIM:219900 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Phacoanaphylactic Uveitis |
|
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... |
ORPHA:209959 |
Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity |
ORPHA:2432 |
Oliver-Mcfarlane Syndrome |
|
Central heterochromia, Long eyebrows, Pigmentary retinopathy, Long eyelashes, Retinal degeneration |
OMIM:275400 |
Juvenile Xanthogranuloma |
|
Hyphema, Uveitis, Asymmetry of iris pigmentation, Proptosis, Iritis, Multiple cafe-au-lait spots,... |
ORPHA:158000 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:277580 |
Waardenburg Syndrome Type 2 |
|
Telecanthus, Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, Whi... |
ORPHA:895 |
Gómez-López-Hernández Syndrome |
|
Telecanthus, Corneal opacity, Hypertelorism |
ORPHA:1532 |
Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
Inhalational Botulism |
|
Ptosis, Mydriasis |
ORPHA:254504 |
Gorlin-Chaudhry-Moss Syndrome |
|
Sclerocornea, Hypertelorism, Abnormal eyelid morphology, Upper eyelid coloboma, Astigmatism |
ORPHA:2095 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Hyphema, Leukocoria, Uveitis,... |
OMIM:221900 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:2513 |
Foodborne Botulism |
|
Ptosis, Arrhythmia, Mydriasis |
ORPHA:228371 |
Anterior Segment Dysgenesis 4 |
|
Hypoplastic iris stroma, Iris hypopigmentation |
OMIM:137600 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity, Subcutaneous hemorrhage |
ORPHA:1980 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Optic atrophy, Ectopia pupillae, Astigmatism, Unilateral narrow palpebral fissure |
OMIM:618727 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Premature graying of hair, Heterochromia iridis, Tremor |
ORPHA:66633 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormality of retinal pigmentation, Epicanthus, Abnormal retinal vascular morphology, Synophrys,... |
ORPHA:1390 |
Infant Botulism |
|
Mydriasis, Cardiac arrest, Hypertension, Keratoconjunctivitis sicca, Hypotension, Ptosis |
ORPHA:178478 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Unilateral Ocular Duplication |
|
Abnormal eyebrow morphology, Hypertelorism, Abnormal pupil morphology, Microcornea, Blepharophimo... |
ORPHA:3374 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Abnormality of skin pigmentation, Keratoc... |
ORPHA:1806 |
Frontofacionasal Dysplasia |
|
Telecanthus, Cataract, Blepharophimosis, Brushfield spots, Hypertelorism, Upper eyelid coloboma, ... |
ORPHA:1791 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Entropion, Keratitis, Telangiectasia, Choreoathetosis, Keratoconjunctivitis sicca, Conj... |
OMIM:278730 |
X-Linked Recessive Ocular Albinism |
|
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Giant melanosom... |
ORPHA:54 |
3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Aniridia, Downslanted palpebral fissures, Iris coloboma |
ORPHA:251038 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy |
ORPHA:90654 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
Mucolipidosis Iv |
|
Corneal opacity, Optic atrophy, Opacification of the corneal stroma, Dystonia, Retinal degeneration |
OMIM:252650 |
Usher Syndrome Type 3 |
|
Cataract, Astigmatism, Iris hypopigmentation |
ORPHA:231183 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Optic nerve mis... |
ORPHA:79433 |
Rodrigues Blindness |
|
Microcornea, Sclerocornea |
OMIM:268320 |
Ophthalmoplegia, Familial Static |
|
Anisocoria, Ptosis |
OMIM:165000 |
3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy, Cataract, Iris hypopigmentation |
ORPHA:67048 |
Amoebic Keratitis |
|
Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor... |
ORPHA:67043 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Epicanthus, Cataract, Sclerocornea, Hypertelorism, Pigmentary retinopathy, Downslanted palpebral ... |
OMIM:614230 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Orbital cyst |
OMIM:251505 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Proptosis, Retinopathy |
OMIM:616171 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions |
OMIM:121820 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
Albinism, Oculocutaneous, Type Ii |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ... |
OMIM:203200 |
2Q24 Microdeletion Syndrome |
|
Cataract, Downslanted palpebral fissures, Abnormality iris morphology, Hypertelorism |
ORPHA:1617 |
Cornea Plana 1, Autosomal Dominant |
|
Flat cornea |
OMIM:121400 |
Griscelli Syndrome Type 1 |
|
Partial albinism, White hair, Premature graying of hair, Retinopathy, Iris hypopigmentation |
ORPHA:79476 |
Miller Fisher Syndrome |
|
Anisocoria, Ptosis, Mydriasis |
ORPHA:98919 |
Encephalocraniocutaneous Lipomatosis |
|
Linear hyperpigmentation, Sclerocornea, Hypoplasia of the iris, Eyelid coloboma, Limbal dermoid |
OMIM:613001 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology |
ORPHA:101082 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia |
OMIM:615285 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Iris hypopigmentation, Tremor, Hypertension, Abnormality of macular pigmentati... |
ORPHA:97229 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Sclerocornea, Dilated cardiomyopathy, Lacrimal duct atresia, Ventricular tachycar... |
OMIM:300952 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Mydriasis |
ORPHA:247815 |
N Syndrome |
|
Megalocornea, Abnormal eyelid morphology |
ORPHA:2608 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... |
ORPHA:41751 |
Stromme Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Hypertelorism, Microcornea, Deeply set eye, Peter... |
OMIM:243605 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Corneal arcus |
OMIM:620058 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Corneal Dystrophy, Lattice Type I |
|
Lattice corneal dystrophy, Recurrent corneal erosions |
OMIM:122200 |
Waardenburg Syndrome, Type 3 |
|
Telecanthus, Partial albinism, Synophrys, Blue irides, Hypopigmented skin patches, Premature gray... |
OMIM:148820 |
Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
Exudative Vitreoretinopathy 4 |
|
Peripheral retinal avascularization, Posterior vitreous detachment, Vitreous hemorrhage, Exudativ... |
OMIM:601813 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Proptosis, Corneal opacity |
ORPHA:2370 |
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Corneal dystrophy, Developmental cataract |
OMIM:271320 |
Eales Disease |
|
Peripheral retinal neovascularization, Anterior uveitis, Rhegmatogenous retinal detachment, Trans... |
ORPHA:40923 |
Mietens Syndrome |
|
Microcornea, Cataract, Corneal opacity, Sclerocornea |
ORPHA:2557 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Botulism |
|
Arrhythmia, Mydriasis |
ORPHA:1267 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Short Syndrome |
|
Posterior embryotoxon, Telecanthus, Corneal opacity, Hypertelorism, Abnormal pupil morphology, Hy... |
ORPHA:3163 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, R... |
ORPHA:85167 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Abnormal size of the palpebral fissures, Hypopigmented skin patches, Mi... |
ORPHA:3214 |
Deafness-Hypogonadism Syndrome |
|
Congenital stationary night blindness, Epicanthus, Heterochromia iridis, Hypertelorism |
ORPHA:90646 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Cho... |
OMIM:601706 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Corneal opacity, Hypertelorism, Keratitis, Synophrys, Conjunctivitis, Long palpebral fissure, Dow... |
OMIM:602562 |
Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma |
OMIM:271630 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog... |
ORPHA:891 |
Microcoria, Congenital |
|
Microcoria, Miosis, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
Usher Syndrome Type 1 |
|
Cataract, Iris hypopigmentation |
ORPHA:231169 |
Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology |
OMIM:160565 |
Methionine Malabsorption Syndrome |
|
White hair, Blue irides |
OMIM:250900 |
Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma, Dystonia |
OMIM:230650 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... |
OMIM:193220 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Rieger anomaly, Telecanthus, Hypertelorism, Proptosis, Absent extraocular muscles, Abnormally pro... |
OMIM:109120 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Keratoconjunctivitis sicca, Uveitis, Corneal neovascularization, Punctate keratitis |
OMIM:617388 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Iris coloboma, Sclerocornea |
ORPHA:77298 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal... |
OMIM:180500 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... |
OMIM:133780 |
Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... |
ORPHA:263479 |
Harel-Yoon Syndrome |
|
Corneal opacity, Optic atrophy, Developmental cataract, Upslanted palpebral fissure, Deeply set e... |
OMIM:617183 |
Microphthalmia, Syndromic 13 |
|
Microcornea, Iris coloboma, Chorioretinal coloboma, Ptosis |
OMIM:300915 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Corneal arcus |
OMIM:144300 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
Spondylo-Ocular Syndrome |
|
Abnormal eyebrow morphology, Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Hypert... |
ORPHA:85194 |
Woolly Hair Nevus |
|
Patchy hypopigmentation of hair, Heterochromia iridis, Persistent pupillary membrane |
ORPHA:79414 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Dystonia, Corneal opacity, Cerebral hemorrhage, Retinal arteriolar tortuosity, Polycoria, Retinal... |
OMIM:175780 |
Hec Syndrome |
|
Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract, Cardiomy... |
ORPHA:2119 |
Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Hypopigmentation of the skin, Hypopigmentation of hair, White eyelashes,... |
ORPHA:79432 |
Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Abnormality of the orbital region,... |
ORPHA:42775 |
Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
Phenylketonuria |
|
Fair hair, Generalized hypopigmentation, Cataract, Blue irides |
OMIM:261600 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177910 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Albinism, Oculocutaneous, Type Vii |
|
Iris transillumination defect, Albinism |
OMIM:615179 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Cataract, Microcornea, Iris transillumination defect, Shallow orbits, Generalized hypopigmentation |
OMIM:617306 |
Galactosialidosis |
|
Conjunctival telangiectasia, Cherry red spot of the macula, Opacification of the corneal stroma |
OMIM:256540 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79435 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Epicanthus, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal... |
OMIM:152950 |
Late-Onset Retinal Degeneration |
|
Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus... |
ORPHA:67042 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp... |
ORPHA:999 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
Trisomy 9P |
|
Deeply set eye, Abnormal pupil morphology, Downslanted palpebral fissures, Hypertelorism |
ORPHA:236 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Optic atrophy, Corneal dystrophy, Developmental cataract |
ORPHA:2572 |
Acrofrontofacionasal Dysostosis |
|
Hypertelorism, Brushfield spots, Hypopigmented skin patches, Eyelid coloboma, Downslanted palpebr... |
ORPHA:1784 |
Apolipoprotein A-I Deficiency |
|
Xanthelasma, Angina pectoris, Opacification of the corneal stroma |
ORPHA:425 |
Hermansky-Pudlak Syndrome 11 |
|
Hypoplasia of the fovea, Fair hair, Epistaxis, Albinism, Ocular albinism, Melanocytic nevus, Iris... |
OMIM:619172 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Epicanthus, Cataract, Palpebral edema, Hypertelorism, Brushfield spots, Optic nerve dysplasia, Up... |
OMIM:214110 |
Wyburn-Mason Syndrome |
|
Epistaxis, Subarachnoid hemorrhage, Cerebral hemorrhage, Proptosis, Retinal vascular malformation... |
ORPHA:53719 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Corneal neovascularization, Limbal stem cell deficiency |
OMIM:615225 |
Intermediate Uveitis |
|
Anterior uveitis, Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floate... |
ORPHA:279914 |
Donnai-Barrow Syndrome |
|
Retinal detachment, Retinal dystrophy, Hypertelorism, Proptosis, Downslanted palpebral fissures, ... |
ORPHA:2143 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Cataract, Proptosis |
ORPHA:85172 |
Waardenburg Syndrome, Type 1 |
|
Telecanthus, White eyelashes, White eyebrow, Partial albinism, Hypertelorism, Synophrys, Blue iri... |
OMIM:193500 |
Serotonin Syndrome |
|
Tachycardia, Tremor, Hypertension, Hypotension, Mydriasis |
ORPHA:43116 |
Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Keratoconjunctivitis, Melena, Opacification of the corneal stroma, Corneal neovasculari... |
OMIM:158310 |
Tonne-Kalscheuer Syndrome |
|
Hypertelorism, Tremor, Blue irides, Hypotelorism, Downslanted palpebral fissures |
OMIM:300978 |
Hermansky-Pudlak Syndrome 8 |
|
Hypoplasia of the fovea, Optic disc pallor, Epistaxis, Albinism, Excessive bleeding after a venip... |
OMIM:614077 |
Crouzon Syndrome |
|
Hypertelorism, Optic atrophy, Hypopigmented skin patches, Melanocytic nevus, Proptosis, Conjuncti... |
ORPHA:207 |
Tangier Disease |
|
Ectropion, Myocardial infarction, Opacification of the corneal stroma, Cicatricial ectropion |
OMIM:205400 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Epicanthus, Ectopia pupillae, Pulmonic stenosis, Hypertelorism |
OMIM:618223 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Telecanthus, Hypertelorism, Microcornea, Opacification of the corneal stroma, Anterior chamber sy... |
OMIM:601499 |
Al-Gazali Syndrome |
|
Corneal opacity, Sclerocornea |
OMIM:609465 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Abnormal pupil morphology, Arrhythmia |
ORPHA:2151 |
Cat-Eye Syndrome (Type I) |
|
Downslanted palpebral fissures, Iris coloboma |
DECIPHER:42 |
Keratoconus Posticus Circumscriptus |
|
Keratoconus, Central posterior corneal opacity, Hypertelorism |
OMIM:244600 |
Oculomaxillofacial Dysostosis |
|
Corneal opacity, Abnormal eyelid morphology, Abnormal eyelash morphology, Upslanted palpebral fis... |
ORPHA:1794 |
Craniotubular Dysplasia, Ikegawa Type |
|
Epicanthus, Optic neuropathy, Hypertelorism, Optic atrophy, Proptosis, Optic nerve compression, M... |
OMIM:619727 |
Cherubism |
|
Macular scar, Optic neuropathy, Lower eyelid retraction, Proptosis, Marcus Gunn pupil |
OMIM:118400 |
Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Antecubital pterygium, Ankyloblepharon, Popliteal pterygium, Axillary pterygium |
OMIM:619339 |
Glaucoma 3, Primary Congenital, E |
|
Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio |
OMIM:617272 |
Pelvis-Shoulder Dysplasia |
|
Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... |
ORPHA:411527 |
Noonan Syndrome 9 |
|
Prominent corneal nerve fibers, Hypertelorism, Sparse eyebrow, Prolonged prothrombin time, Pulmon... |
OMIM:616559 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation, Palpebral edema, Ectopia lentis, Iris coloboma, Ptosis |
ORPHA:1259 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Ocular albinism, Blue irides, Hypopigmented skin patches, Hypopla... |
OMIM:611584 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Dilated cardiomyopathy, Developmental cataract, Bradycardia, Hypertrophic cardio... |
OMIM:618815 |
Hermansky-Pudlak Syndrome 5 |
|
Hypoplasia of the fovea, Prolonged bleeding time, Epistaxis, Albinism, Ocular albinism, Iris tran... |
OMIM:614074 |
Congenital Microcoria |
|
Abnormal pupillary light reflex, Developmental cataract, Corneal stromal edema, Iris transillumin... |
ORPHA:566 |
Retinoblastoma |
|
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema, Leukocori... |
ORPHA:790 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
Corneal Dystrophy, Lattice Type Iiia |
|
Corneal erosion, Lattice corneal dystrophy |
OMIM:608471 |
Neovascular Glaucoma |
|
Retinal detachment, Abnormal posterior eye segment morphology, Iris neovascularization, Retinal v... |
ORPHA:94058 |
Infantile Nephropathic Cystinosis |
|
Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals |
ORPHA:411629 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Epicanthus, Telecanthus, Hypertelorism, Telangiectasia, Pigmentary retinopathy, Axenfeld anomaly,... |
OMIM:612582 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Hypertension, Retinal infarction, Pulmonary arterial hypertension, Mydriasis |
OMIM:613834 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Hypertelorism, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of... |
OMIM:614195 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy, Upslanted palpebral fissure, De... |
ORPHA:496790 |
Scheie Syndrome |
|
Aortic regurgitation, Aortic valve stenosis, Corneal opacity, Retinal degeneration |
OMIM:607016 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411515 |
Pituitary Apoplexy |
|
Ptosis, Hypertension, Hypotension, Mydriasis |
ORPHA:95613 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Retinal detachment, Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Uv... |
OMIM:193235 |
Coats Disease |
|
Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
Mucolipidosis Iii Gamma |
|
Aortic regurgitation, Aortic valve stenosis, Opacification of the corneal stroma |
OMIM:252605 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation, Corneal dystrophy |
ORPHA:16 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Blue irides |
OMIM:615516 |
Retinal Capillary Malformation |
|
Subretinal exudate, Central fundal arteriolar microaneurysms, Vitreous floaters, Epiretinal membr... |
ORPHA:71213 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
Proteus-Like Syndrome |
|
Retinal detachment, Cataract, Abnormal pupil morphology, Downslanted palpebral fissures, Limbal d... |
ORPHA:2969 |
Alexander Disease |
|
Microcoria |
OMIM:203450 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Developmental glaucoma, Corneal opacity, Telecanthus |
ORPHA:1064 |
Noonan Syndrome 4 |
|
Abnormal bleeding, Epicanthus, Hypertelorism, Sparse eyebrow, Bilateral ptosis, Blue irides, Pulm... |
OMIM:610733 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Edinburgh Malformation Syndrome |
|
Brushfield spots, Synophrys |
ORPHA:1895 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor |
OMIM:619649 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Iris coloboma, Inferior chorioretinal coloboma |
OMIM:614497 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Sclerocornea, Junctional ectopic tachycardia, Pigmentary retinopathy, Peters anomaly, H... |
OMIM:309801 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Waardenburg Syndrome Type 1 |
|
Telecanthus, White eyelashes, White eyebrow, Hypopigmentation of hair, Synophrys, White hair, Hyp... |
ORPHA:894 |
Albinism-Deafness Syndrome |
|
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... |
ORPHA:998 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypertension, Proptosis, Corneal opacity |
OMIM:166300 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Corneal arcus |
OMIM:245900 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Epicanthus, Blue irides, Hand tremor, Upslanted palpebral fissure, Deeply set eye, Cafe-au-lait spot |
ORPHA:3041 |
Mucolipidosis Type Iii |
|
Corneal opacity |
ORPHA:577 |
Pontocerebellar Hypoplasia Type 10 |
|
Highly arched eyebrow, Optic atrophy, Proptosis, Long eyelashes, Long palpebral fissure |
ORPHA:411493 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Ectropion |
ORPHA:411777 |
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome |
|
Lacrimal duct atresia, Iris coloboma |
ORPHA:139450 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Corneal arcus |
OMIM:603776 |
Gomez-Lopez-Hernandez Syndrome |
|
Downslanted palpebral fissures, Opacification of the corneal stroma, Hypertelorism |
OMIM:601853 |
Alternating Hemiplegia Of Childhood |
|
Cardiac conduction abnormality, Tremor, Choreoathetosis, Cardiomyopathy, Thin eyebrow, Dystonia, ... |
ORPHA:2131 |
Stickler Syndrome Type 1 |
|
Retinal detachment, Cataract, Proptosis, Abnormal vitreous humor morphology |
ORPHA:90653 |
Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79434 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Hypertelorism, Abnormal eyelash morph... |
ORPHA:2399 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Hypertension, Leukocoria, Telangiectasia |
OMIM:219250 |
Loose Anagen Syndrome |
|
Iris coloboma |
ORPHA:168 |
Hypercholesterolemia, Familial, 1 |
|
Xanthelasma, Corneal arcus |
OMIM:143890 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Proptosis, Corneal opacity, Hypertelorism |
OMIM:618961 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
Trisomy 12P |
|
Epicanthus, Hypertelorism, Aplasia/Hypoplasia of the iris, Proptosis, Thick eyebrow |
ORPHA:1699 |
Wolf-Hirschhorn Syndrome |
|
Epicanthus, Sclerocornea, Highly arched eyebrow, Hypertelorism, Optic atrophy, Proptosis, Retinop... |
ORPHA:280 |
Neurocardiofaciodigital Syndrome |
|
Optic disc pallor, Cataract, Sclerocornea, Sparse eyebrow, Narrow palpebral fissure |
OMIM:619869 |
Arachnoid Cyst |
|
Ptosis, Subarachnoid hemorrhage, Mydriasis |
ORPHA:2356 |
Coats Disease |
|
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... |
ORPHA:190 |
Chromosome 5P13 Duplication Syndrome |
|
Epicanthus, Blepharophimosis, Hypertelorism, Hypotelorism, Upslanted palpebral fissure, Astigmati... |
OMIM:613174 |
Alagille Syndrome |
|
Keratoconus, Telangiectasia of the skin, Corneal dystrophy, Hypertelorism, Abnormal pupil morphol... |
ORPHA:52 |
Corneal Dystrophy, Gelatinous Drop-Like |
|
Corneal dystrophy |
OMIM:204870 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Cataract, Optic atrophy, Proptosis |
OMIM:617481 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613266 |
Noonan Syndrome 13 |
|
Epicanthus, Highly arched eyebrow, Hypertelorism, Almond-shaped palpebral fissure, Blue irides, M... |
OMIM:619087 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma |
OMIM:601356 |
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus |
|
Microcornea, Posterior subcapsular cataract, Telecanthus, Chorioretinal degeneration |
OMIM:615458 |
Free Sialic Acid Storage Disease |
|
Abnormality of skin pigmentation, Athetosis, Iris hypopigmentation |
ORPHA:834 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Zellweger Syndrome |
|
Epicanthus, Cataract, Corneal opacity, Abnormal chorioretinal morphology, Brushfield spots, Optic... |
ORPHA:912 |
Oculoectodermal Syndrome |
|
Epicanthus, Transient ischemic attack, Hyperpigmented streaks, Chorioretinal atrophy, Microcornea... |
OMIM:600268 |
Retinopathy Of Prematurity |
|
Tractional retinal detachment, Retinal arteriolar tortuosity, Abnormal retinal vascular morpholog... |
ORPHA:90050 |
Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
Warburg-Cinotti Syndrome |
|
Epicanthus, Retinal dystrophy, Symblepharon, Narrow palpebral fissure, Limbal stem cell deficienc... |
OMIM:618175 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Blepharitis |
OMIM:602400 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Pulmonary embolism, Abnormal ... |
ORPHA:3205 |
Kid Syndrome |
|
Sparse eyelashes, Keratitis, Posterior blepharitis, Corneal erosion, Sparse eyebrow, Keratoconjun... |
ORPHA:477 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Epicanthus, Telecanthus, Palpebral edema, Transient ischemic attack, Highly arched eyebrow, Hyper... |
ORPHA:2995 |
Hermansky-Pudlak Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Hypopigmentation of hair, Cataract, Partial albin... |
ORPHA:79430 |
Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv... |
ORPHA:79431 |
Cat-Eye Syndrome |
|
Downslanted palpebral fissures, Iris coloboma, Chorioretinal coloboma, Hypertelorism |
ORPHA:195 |
Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Corneal arcus |
OMIM:144010 |
Hermansky-Pudlak Syndrome 7 |
|
Prolonged bleeding time, Epistaxis, Albinism, Post-partum hemorrhage, Ocular albinism, Menorrhagi... |
OMIM:614076 |
Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Tricuspid regurgitation, Corneal opacity, Abnormal nasolacri... |
ORPHA:2556 |
Griscelli Syndrome Type 2 |
|
Hypopigmentation of hair, Partial albinism, Premature graying of hair, Petechiae, Iris hypopigmen... |
ORPHA:79477 |
Microcornea-Glaucoma-Absent Frontal Sinuses Syndrome |
|
Microcornea, Epicanthus |
ORPHA:2536 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Cataract, Corneal opacity, Iris hypopigmentation, Ocular albinism, Athe... |
ORPHA:2719 |
Griscelli Syndrome |
|
Abnormal eyebrow morphology, Abnormal eyelash morphology, Silver-gray hair, White hair, Hypopigme... |
ORPHA:381 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Proptosis, Optic atrophy, Mydriasis |
OMIM:259720 |
Albinism, Oculocutaneous, Type Ia |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair... |
OMIM:203100 |
Norrie Disease |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... |
ORPHA:649 |
Sjogren-Larsson Syndrome |
|
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Opacification of the corn... |
OMIM:270200 |
Duane Retraction Syndrome |
|
Central heterochromia, Patchy hypopigmentation of hair, Optic disc hypoplasia, Blepharophimosis, ... |
ORPHA:233 |
Juvenile Nephropathic Cystinosis |
|
Abnormal cornea morphology, Hypovolemia, Corneal crystals |
ORPHA:411634 |
Congenital Fibrosis Of Extraocular Muscles |
|
Torticollis, Cataract, Miosis, Optic nerve hypoplasia, Levator palpebrae superioris atrophy, Anis... |
ORPHA:45358 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Retinal dystrophy, Peripheral retinal atrophy, Absent foveal reflex, Microcornea, Iris coloboma |
OMIM:615147 |
Hepatic Lipase Deficiency |
|
Corneal arcus, Angina pectoris |
OMIM:614025 |
Corneal Dystrophy, Congenital Stromal |
|
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy |
OMIM:610048 |
Corneal Dystrophy, Fleck |
|
Speckled corneal dystrophy |
OMIM:121850 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Macular atrophy, Mizuo p... |
OMIM:312700 |
Familial Dysautonomia |
|
Orthostatic hypotension, Tachycardia, Corneal opacity, Abnormal pupil morphology, Corneal erosion... |
ORPHA:1764 |
Bartsocas-Papas Syndrome |
|
Corneal opacity, Ankyloblepharon, Popliteal pterygium, Eyelid coloboma, Sparse or absent eyelashe... |
ORPHA:1234 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Downslanted palpebral fissures, Iris coloboma, Hypertelorism |
OMIM:155145 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Fish-Eye Disease |
|
Angina pectoris, Corneal opacity |
ORPHA:79292 |
Deafness, Autosomal Recessive 108 |
|
Iris coloboma |
OMIM:617654 |
Erythrokeratodermia Variabilis |
|
Irregular hyperpigmentation, Cataract, Corneal opacity, Hypermelanotic macule |
ORPHA:317 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Epicanthus, Cataract, Sparse eyelashes, Telecanthus, Microcornea, Deeply set eye, Persistent pupi... |
OMIM:257850 |
Bickerstaff Brainstem Encephalitis |
|
Anisocoria, Ptosis, Mydriasis |
ORPHA:79138 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
Attenuated Chédiak-Higashi Syndrome |
|
Epistaxis, Ocular albinism, Gingival bleeding, Generalized hypopigmentation, Bruising susceptibility |
ORPHA:352723 |
Hermansky-Pudlak Syndrome 4 |
|
Abnormal bleeding, Hypoplasia of the fovea, Epistaxis, Albinism, Ocular albinism, Menorrhagia, Br... |
OMIM:614073 |
Biemond Syndrome Ii |
|
Iris coloboma |
OMIM:210350 |
Houge-Janssens Syndrome 3 |
|
Epicanthus, Megalocornea, Proptosis, Hypertelorism |
OMIM:618354 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea |
OMIM:251750 |
Sialidosis Type 2 |
|
Tremor, Corneal opacity, Abnormal macular morphology |
ORPHA:87876 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Opacification of the corneal stroma |
OMIM:215250 |
Hypomelanosis Of Ito |
|
Epicanthus, Cataract, Hypertelorism, Macular hypopigmented whorls, streaks, and patches, Iris col... |
OMIM:300337 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ... |
OMIM:617021 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Postural hypotension with compensatory tachycardia, Keratitis, Corneal scarring, Recurrent cornea... |
OMIM:256800 |
Albinism, Ocular, Type I |
|
Hypoplasia of the fovea, Giant melanosomes in melanocytes, Ocular albinism, Depigmented fundus |
OMIM:300500 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
Vitamin K Antagonist Embryofetopathy |
|
Cataract, Optic atrophy, Proptosis, Hypertelorism |
ORPHA:1914 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Bidirectional shunt, Elevated pulmonary artery pressure, Mydriasis |
OMIM:619351 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic regurgitation, Abnormal iris pigmentation, Abnormal left ventricular function |
OMIM:132900 |
Knobloch Syndrome 1 |
|
Attenuation of retinal blood vessels, Retinal detachment, Epicanthus, Telecanthus, Optic disc pal... |
OMIM:267750 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Telecanthus, Hypopigmentation of hair, Synophrys, Hypopigmented skin... |
ORPHA:3440 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Lagophthalmos, Bilateral ptosis, Optic atrophy, Corne... |
ORPHA:404454 |
Mowat-Wilson Syndrome |
|
Cataract, Hypertelorism, Microcornea, Deeply set eye, Ectopia pupillae, Pulmonic stenosis, Chorio... |
OMIM:235730 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Cataract, Corneal opacity |
ORPHA:290 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Hurler-Scheie Syndrome |
|
Cardiomyopathy, Corneal opacity |
ORPHA:93476 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... |
OMIM:120200 |
Meckel Syndrome |
|
Cataract, Abnormal chorioretinal morphology, Sclerocornea, Hypertelorism, Optic atrophy, Microcor... |
ORPHA:564 |
Wagro Syndrome |
|
Cataract, Corneal opacity, Hypertension, Aniridia, Downslanted palpebral fissures, Ptosis |
OMIM:612469 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Cataract, Band keratopathy |
OMIM:604278 |
Smith-Lemli-Opitz Syndrome |
|
Epicanthus, Cataract, Hypopigmentation of hair, Sclerocornea, Hypertelorism, Abnormal eyelash mor... |
ORPHA:818 |
Usher Syndrome Type 2 |
|
Cataract, Iris hypopigmentation |
ORPHA:231178 |
Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Scorpion Envenomation |
|
Bundle branch block, Purpura, Tachycardia, Miosis, Cardiac conduction abnormality, Tremor, Conges... |
ORPHA:466677 |
Oculocutaneous Albinism Type 5 |
|
Hypoplasia of the fovea, Ocular albinism, Abnormal fundus morphology |
ORPHA:370091 |
Autoimmune Polyendocrinopathy Type 1 |
|
Cataract, Hypopigmented skin patches, Opacification of the corneal stroma |
ORPHA:3453 |
Mucolipidosis Iii Alpha/Beta |
|
Aortic regurgitation, Hyperopic astigmatism, Opacification of the corneal stroma, Retinopathy, Re... |
OMIM:252600 |
Oculocerebrocutaneous Syndrome |
|
Corneal opacity, Hypertelorism, Hypopigmented skin patches, Eyelid coloboma, Iris coloboma, Ptosis |
ORPHA:1647 |
Proboscis Lateralis |
|
Abnormal morphology of bony orbit of skull, Microcornea, Eyelid coloboma, Abnormality of the ocul... |
ORPHA:141099 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Epicanthus, Thick eyebrow, Highly arched eyebrow, Hypertelorism, Upslanted palpebral fissure, Pro... |
OMIM:615834 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Miosis, Retinal dystrophy, Macular atrophy, Corneal scarring, Bupht... |
OMIM:212550 |
Olmsted Syndrome 1 |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:614594 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Red hair, Fair hair, Blue irides |
OMIM:614613 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Donnai-Barrow Syndrome |
|
Retinal detachment, Cataract, Retinal dystrophy, Hypertelorism, Hypoplasia of the iris, Proptosis... |
OMIM:222448 |
Frontoocular Syndrome |
|
Epicanthus, Hypotelorism, Upslanted palpebral fissure, Proptosis, Pulmonic stenosis, Blepharophim... |
OMIM:605321 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Proptosis, Highly arched eyebrow |
OMIM:608716 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Juvenile Glaucoma |
|
Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion... |
ORPHA:98977 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity, Spotty hypopigmentation, Heart murmur, Hyperpigmentation of the skin |
ORPHA:1867 |
1Q41Q42 Microdeletion Syndrome |
|
Upslanted palpebral fissure, Deeply set eye, Abnormality iris morphology, Hypotelorism |
ORPHA:250999 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy |
ORPHA:1369 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Cataract, White hair, Ocular albinism, Generalized hypopigmentation, Iris hypopigmentation |
ORPHA:2720 |
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Upslanted palpebral fissure, Proptosis |
OMIM:618492 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemia |
OMIM:612840 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Corneal opacity |
ORPHA:2741 |
Cystinosis, Nephropathic |
|
Hypopigmentation of hair, Retinal pigment epithelial mottling, Pigmentary retinopathy, Recurrent ... |
OMIM:219800 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Retinal dystrophy, Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Ch... |
ORPHA:231736 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
3Mc Syndrome 3 |
|
Corneal opacity, Highly arched eyebrow, Hypertelorism, Blepharophimosis, Epicanthus inversus, Ptosis |
OMIM:248340 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
Van Den Ende-Gupta Syndrome |
|
Blepharophimosis, Abnormal eyebrow morphology, Sclerocornea |
OMIM:600920 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Cataract, Optic nerve hypoplasia, Sclerocornea |
OMIM:206900 |
Osteoporosis-Pseudoglioma Syndrome |
|
Retinal detachment, Corneal opacity, Abnormal vitreous humor morphology, Exudative retinopathy, E... |
ORPHA:2788 |
Pseudo-Torch Syndrome 1 |
|
Cataract, Petechiae, Opacification of the corneal stroma, Dystonia |
OMIM:251290 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos... |
ORPHA:824 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Galloway-Mowat Syndrome 1 |
|
Epicanthus, Cataract, Hypertelorism, Optic atrophy, Hypoplasia of the iris, Opacification of the ... |
OMIM:251300 |
Hermansky-Pudlak Syndrome 6 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Albinism, Ocular albinism, Absent foveal r... |
OMIM:614075 |
Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Optic atrophy, Thick eyebrow |
ORPHA:585 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Hermansky-Pudlak Syndrome 9 |
|
Hypopigmentation of the skin, Ocular albinism, Hypopigmentation of the fundus |
OMIM:614171 |
Lacrimoauriculodentodigital Syndrome |
|
Lacrimal gland aplasia, Absent lacrimal punctum, Increased corneal thickness, Hypoplasia of the l... |
ORPHA:2363 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98795 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Iris coloboma, Chorioretinal coloboma |
OMIM:613702 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Rod-cone dystrophy, Cataract |
OMIM:619082 |
Wolf-Hirschhorn Syndrome |
|
Rieger anomaly, Epicanthus, Highly arched eyebrow, Hypertelorism, Ectopia pupillae, Proptosis, Ir... |
OMIM:194190 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... |
OMIM:613270 |
Mucolipidosis Type Iv |
|
Retinopathy, Abnormality of retinal pigmentation, Corneal opacity |
ORPHA:578 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Cataract, Corneal opacity |
OMIM:613153 |
Ocular Albinism With Late-Onset Sensorineural Deafness |
|
Ocular albinism |
ORPHA:1000 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal degeneration, Corneal dystrophy, Corneal guttata |
OMIM:610158 |
Idiopathic Panuveitis |
|
Cataract, Miosis, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal memb... |
ORPHA:280921 |
Angelman Syndrome |
|
Blue irides, Limb tremor, Deeply set eye, Fair hair, Hypopigmentation of the skin |
OMIM:105830 |
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Vitreous hemorrhage, Purpura |
OMIM:612304 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Cataract, Entropion, Telangiectasia of the skin, Hypermelanotic macu... |
ORPHA:910 |
Hurler Syndrome |
|
Aortic regurgitation, Corneal opacity, Hypertelorism, Bilateral ptosis, Cardiomyopathy, Mitral re... |
OMIM:607014 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria |
ORPHA:289483 |
Developmental And Epileptic Encephalopathy 48 |
|
Optic disc pallor, Proptosis, Long eyelashes, Long palpebral fissure, Rod-cone dystrophy |
OMIM:617276 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Abnormal bleeding, Corneal opacity, Athetosis, Abnormal cornea morphology, Dystonia, Downslanted ... |
ORPHA:357058 |
Angelman Syndrome |
|
Keratoconus, Optic disc pallor, Iris hypopigmentation, Tremor, Optic atrophy, Astigmatism, Fair h... |
ORPHA:72 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Short stature, Pallor |
ORPHA:2786 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Aortic regurgitation, Epicanthus, Cataract, Palpebral edema, Tricuspid regurgitation, Hypertelori... |
OMIM:614866 |
Alpha-Mannosidosis |
|
Cataract, Corneal opacity, Hypertelorism |
ORPHA:61 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Flat cornea, Macular atrophy, Optic disc coloboma, Microcornea, Shallow anterior chamber, Chorior... |
OMIM:602499 |
Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... |
OMIM:613195 |
Crouzon Syndrome |
|
Hypertelorism, Keratitis, Optic atrophy, Proptosis, Conjunctivitis, Shallow orbits |
OMIM:123500 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly |
OMIM:610023 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Epicanthus, Cataract, Hypertelorism, Brushfield spots, Upslanted palpebral fis... |
OMIM:214100 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Upslanted palpebral fissure, Posterior subcapsular cataract, Astigmatism, Proptosis |
OMIM:619234 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Epicanthus, Highly arched eyebrow, Hypertelorism, Bilateral ptosis, Upslanted palpebral fissure, ... |
ORPHA:352490 |
Trichinellosis |
|
Retinal hemorrhage, Central retinal artery occlusion, Anisocoria, Conjunctivitis, Abnormal uvea m... |
ORPHA:863 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Uveitis, Cataract, Anterior chamber synechiae, Band keratopathy |
ORPHA:85410 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Brittle Cornea Syndrome 1 |
|
Keratoconus, Epicanthus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, R... |
OMIM:229200 |
Cherubism |
|
Proptosis, Optic atrophy |
ORPHA:184 |
Neuroocular Syndrome |
|
Synophrys, Lens coloboma, Microcornea, Deeply set eye, Iris coloboma, Hooded upper eyelid, Hypopl... |
OMIM:619539 |
Lathosterolosis |
|
Epicanthus, Cataract, Microcornea, Opacification of the corneal stroma, Downslanted palpebral fis... |
ORPHA:46059 |
Corneal Dystrophy, Fuchs Endothelial, 4 |
|
Corneal dystrophy, Corneal guttata |
OMIM:613268 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Telecanthus, Cataract, Epicanthus, Purpura, Abnormal eyelid morpholo... |
ORPHA:567 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Opacification of the corneal stroma |
OMIM:313400 |
Frias Syndrome |
|
Hypertelorism, Proptosis, Downslanted palpebral fissures, Ptosis |
OMIM:609640 |
Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity |
ORPHA:281090 |
Megalocornea-Intellectual Disability Syndrome |
|
Iridodonesis, Epicanthus, Hypertelorism, Hypoplasia of the iris, Astigmatism, Megalocornea, Abnor... |
ORPHA:2479 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411511 |
Pai Syndrome |
|
Telecanthus, Downslanted palpebral fissures, Iris coloboma, Hypertelorism |
ORPHA:1993 |
Retinoblastoma |
|
Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma |
OMIM:180200 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Carpenter Syndrome 1 |
|
Telecanthus, Epicanthus, Optic atrophy, Microcornea, Pulmonic stenosis, Opacification of the corn... |
OMIM:201000 |
Yunis-Varon Syndrome |
|
Cataract, Sparse eyelashes, Sclerocornea, Hypertelorism, Sparse eyebrow, Renovascular hypertensio... |
ORPHA:3472 |
Herpes Simplex Virus Stromal Keratitis |
|
Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... |
ORPHA:137599 |
Linear Verrucous Nevus Syndrome |
|
Cataract, Abnormal cornea morphology, Retinopathy, Iris coloboma, Aplasia/Hypoplasia of the fovea |
ORPHA:2611 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Iris coloboma, Chorioretinal coloboma |
OMIM:611638 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Anisocoria, Orthostatic hypotension, Optic atrophy, Hyperpigmentation of the skin |
OMIM:231550 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Revesz Syndrome |
|
Exudative retinopathy, Megalocornea, Fine, reticulate skin pigmentation, Leukocoria |
OMIM:268130 |
Neu-Laxova Syndrome 2 |
|
Ablepharon, Cataract, Proptosis, Hypertelorism |
OMIM:616038 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Aniridia, Developmental glaucoma, Telecanthus |
OMIM:206750 |
Lateral Meningocele Syndrome |
|
Epicanthus, Hypertelorism, Proptosis, Downslanted palpebral fissures, Iris coloboma, Ptosis |
ORPHA:2789 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Corneal dystrophy, Keratitis, Sparse eyebrow, Conjunctivitis, Blepharitis, Ectr... |
OMIM:308800 |
Cenani-Lenz Syndrome |
|
Ptosis, Cataract, Hypertelorism, Proptosis, Downslanted palpebral fissures, Ectropion |
ORPHA:3258 |
Atelis Syndrome 2 |
|
Epicanthus, Remnants of the hyaloid vascular system, Developmental cataract, Supravalvar pulmonar... |
OMIM:620185 |
Lowry-Maclean Syndrome |
|
Corneal opacity, Developmental glaucoma, Proptosis, Megalocornea, Downslanted palpebral fissures |
ORPHA:2409 |
Alpha-Mannosidosis, Adult Form |
|
Aortic regurgitation, Optic disc pallor, Cataract, Corneal opacity |
ORPHA:309288 |
Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Frec... |
OMIM:203300 |
Chediak-Higashi Syndrome |
|
Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Tremor, Silver-gray hair, Ocular albi... |
OMIM:214500 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Cataract, Hypertelorism, Hypotelorism, Athetosis, Corneal arcus |
OMIM:219150 |
Axenfeld-Rieger Syndrome |
|
Telecanthus, Hypertelorism, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris,... |
ORPHA:782 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... |
ORPHA:3202 |
Hereditary Spherocytosis |
|
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... |
ORPHA:822 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:259710 |
Pediatric-Onset Graves Disease |
|
Atrial fibrillation, Abnormal eyelid morphology, Keratitis, Congestive heart failure, Tremor, Hyp... |
ORPHA:525731 |
Plague |
|
Abnormal bleeding, Tachycardia, Hematemesis, Hypotension, Arrhythmia, Conjunctival hyperemia, Myd... |
ORPHA:707 |
Non-Syndromic Bicoronal Craniosynostosis |
|
Proptosis, Hypertelorism |
ORPHA:35099 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Pierson Syndrome |
|
Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya... |
OMIM:609049 |
Leptospirosis |
|
Papilledema, Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Uveitis, Subc... |
ORPHA:509 |
Koolen-De Vries Syndrome |
|
Epicanthus, Cataract, Iris hypopigmentation, Hypotelorism, Upslanted palpebral fissure, Pulmonic ... |
OMIM:610443 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Nephronophthisis 11 |
|
Anisocoria, Retinal degeneration |
OMIM:613550 |
Neuhauser Syndrome |
|
Iridodonesis, Epicanthus, Hypertelorism, Hypoplasia of the iris, Megalocornea, Downslanted palpeb... |
OMIM:249310 |
Marshall Syndrome |
|
Retinal detachment, Cataract, Sparse eyelashes, Hypertelorism, Sparse eyebrow, Ectopia lentis, Ab... |
ORPHA:560 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Abnormal EKG, Cataract, Corneal opacity, Optic atrophy, Developmental ca... |
ORPHA:93400 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Pontocerebellar Hypoplasia, Type 3 |
|
Long palpebral fissure, Optic disc pallor, Proptosis, Optic atrophy |
OMIM:608027 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Anisocoria, Orthostatic hypotension, Ptosis |
OMIM:615510 |
Walker-Warburg Syndrome |
|
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Retinal dystrophy, Optic ... |
ORPHA:899 |
Sympathetic Ophthalmia |
|
Papilledema, Retinal detachment, Cataract, Poliosis, Vitreous floaters, Vitritis, Retinal hemorrh... |
ORPHA:79098 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy, Corneal guttata |
OMIM:615523 |
Sialidosis Type 1 |
|
Cataract, Corneal opacity, Tremor, Cherry red spot of the macula, Retinopathy |
ORPHA:812 |
Developmental And Epileptic Encephalopathy 75 |
|
Optic disc pallor, Hypertelorism, Optic atrophy, Upslanted palpebral fissure, Cardiomyopathy, Pro... |
OMIM:618437 |
Collagenoma, Familial Cutaneous |
|
Iris atrophy, Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Con... |
OMIM:115250 |
Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
Tyrosinemia Type 2 |
|
Tremor, Corneal opacity |
ORPHA:28378 |
Farber Disease |
|
Corneal opacity, Macular degeneration, Abnormal conjunctiva morphology, Opacification of the corn... |
ORPHA:333 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Tremor, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98794 |
Congenital Heart Block |
|
Pericardial effusion, Pallor, Endocardial fibroelastosis, Intrauterine growth retardation, Patent... |
ORPHA:60041 |
Charcot-Marie-Tooth Disease Type 1E |
|
Anisocoria, Tonic pupil, Abnormal pupil morphology, Slow pupillary light response |
ORPHA:90658 |
Tetralogy Of Fallot |
|
Proptosis |
OMIM:187500 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Growth delay, Hypertrophic cardiomyopathy, Pallor |
OMIM:613561 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Ventricular septal defect, Pallor, Short stature |
ORPHA:49827 |
Mucopolysaccharidosis Type 6 |
|
Opacification of the corneal stroma |
ORPHA:583 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Iris flocculi |
OMIM:611788 |
Bartsocas-Papas Syndrome 1 |
|
Absent eyebrow, Ablepharon, Cicatricial lagophthalmos, Absent eyelashes, Hypertelorism, Lower eye... |
OMIM:263650 |
Toriello-Lacassie-Droste Syndrome |
|
Epicanthus, Telecanthus, Generalized hyperpigmentation, Blepharophimosis, Abnormal conjunctiva mo... |
ORPHA:3339 |
Dural Sinus Malformation |
|
Papilledema, Cerebral hemorrhage, Subarachnoid hemorrhage, Cerebellar hemorrhage, Subdural hemorr... |
ORPHA:97339 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Epicanthus, Hypertelorism, Optic atrophy, Blue irides, Melanocytic nevus |
OMIM:101800 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Telecanthus, Corneal opacity, Optic nerve hypoplasia, Hypertelorism, Abnormal left ventricular fu... |
OMIM:301056 |
Anophthalmia Plus Syndrome |
|
Blepharophimosis, Eyelid coloboma, Iris coloboma, Hypertelorism |
ORPHA:1104 |
Kniest Dysplasia |
|
Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Rhegmatogenous retinal detachment, ... |
ORPHA:485 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria |
ORPHA:2714 |
Neurotrophic Keratopathy |
|
Anterior uveitis, Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosion... |
ORPHA:137596 |
Lcat Deficiency |
|
Corneal opacity |
ORPHA:650 |
Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract |
OMIM:221800 |
Schimke Immunoosseous Dysplasia |
|
Transient ischemic attack, Hypermelanotic macule, Hypertension, Astigmatism, Cerebral ischemia, O... |
OMIM:242900 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Cataract, Band keratopathy, Uveitis, Hypertension, Iritis... |
OMIM:186580 |
Acrofrontofacionasal Dysostosis 1 |
|
Iris atrophy, Long eyebrows, Hypertelorism, Optic atrophy, Long eyelashes, S-shaped palpebral fis... |
OMIM:201180 |
Nail-Patella Syndrome |
|
Keratoconus, Ptosis, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign |
OMIM:161200 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Telecanthus, Hypopigmentation of hair, Hypopigmented skin patches, P... |
ORPHA:163746 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Ectopia lentis, Melanocytic nevus, Hypertension, Keratoconjunctivitis sicca, Deeply set eye, Prop... |
OMIM:616914 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Upslanted palpebral fissure, Ocular albinism, Blepharophimosis |
ORPHA:1352 |
Teebi Hypertelorism Syndrome 2 |
|
Hypertelorism, Upper eyelid coloboma, Proptosis, Thick eyebrow, Ptosis |
OMIM:619736 |
Cyclic Vomiting Syndrome |
|
Growth delay, Cardiomyopathy, Pallor |
OMIM:500007 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Epicanthus, Highly arched eyebrow, Hypertelorism, Heart murmur, Anisocoria, Narrow palpebral fissure |
OMIM:618653 |
Mucopolysaccharidosis, Type Ivb |
|
Aortic valve stenosis, Corneal opacity, Mitral regurgitation, Opacification of the corneal stroma |
OMIM:253010 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Sparse eyebrow, Hypertelorism, Iris coloboma, Ptosis |
ORPHA:66629 |
Scalp-Ear-Nipple Syndrome |
|
Epicanthus, Cataract, Telecanthus, Palpebral edema, Congestive heart failure, Lower eyelid colobo... |
OMIM:181270 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Bruising susceptibility, Downslanted palpebral fissures, Proptosis |
ORPHA:157965 |
Holoprosencephaly 11 |
|
Synophrys, Proptosis, Thick eyebrow, Hypotelorism |
OMIM:614226 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Iris atrophy, Telecanthus, Cataract, Epicanthus, Highly arched eyebrow, Hypertelorism, Abnormal p... |
ORPHA:261552 |
Scheie Syndrome |
|
Aortic regurgitation, Corneal opacity |
ORPHA:93474 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormality iris morphology,... |
ORPHA:370959 |
Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Opacification ... |
ORPHA:79280 |
Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Hypertelorism, Almond-shaped palpebral fissure, Hypotelorism, Upslanted... |
ORPHA:177907 |
Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Telecanthus, Corneal opacity, Hypertelorism, Synophrys, Thin eyebrow, Cafe-au-lait spot, Short pa... |
ORPHA:364577 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Generalized hyperpigmentation, Ab... |
ORPHA:636 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Conjunctivitis, Ecchymosis, Internal hem... |
ORPHA:99827 |
Gaucher Disease, Type Iiic |
|
Mitral stenosis, Opacification of the corneal stroma |
OMIM:231005 |
Juvenile Sialidosis Type 2 |
|
Optic atrophy, Cherry red spot of the macula, Cataract, Corneal opacity |
ORPHA:93399 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Cataract, Absent eyelashes, Proptosis, Hyperpigmentation of the skin |
ORPHA:90153 |
Tetralogy Of Fallot |
|
Proptosis |
ORPHA:3303 |
Hereditary Acrokeratotic Poikiloderma |
|
Telangiectasia of the skin, Hypopigmented skin patches, Keratoconjunctivitis, Gingival bleeding, ... |
ORPHA:2907 |
Apert Syndrome |
|
Hypertelorism, Corneal erosion, Optic atrophy, Hypertension, Proptosis, Downslanted palpebral fis... |
ORPHA:87 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
Multiple Synostoses Syndrome 3 |
|
Proptosis |
OMIM:612961 |
Noonan Syndrome 10 |
|
Epicanthus, Prominent corneal nerve fibers, Hypertelorism, Sparse eyebrow, Hypertrophic cardiomyo... |
OMIM:616564 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Absent eyebrow, Keratitis, Absent eyelashes, Hypertension, Opacification of the corneal stroma, R... |
OMIM:308205 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Retinal coloboma, Iris coloboma, Chorioretinal coloboma |
ORPHA:2921 |
2Q31.1 Microdeletion Syndrome |
|
Epicanthus, Hypertelorism, Synophrys, Optic disc coloboma, Proptosis, Downslanted palpebral fissu... |
ORPHA:251014 |
Encephalocraniocutaneous Lipomatosis |
|
Corneal opacity, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal ey... |
ORPHA:2396 |
Chops Syndrome |
|
Cataract, Hypertelorism, Synophrys, Optic atrophy, Proptosis, Long eyelashes, Thick eyebrow |
OMIM:616368 |
Frontofacionasal Dysplasia |
|
Telecanthus, Cataract, Hypertelorism, Ankyloblepharon, Microcornea, Eyelid coloboma, S-shaped pal... |
OMIM:229400 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Downslanted palpebral fissures, Proptosis, Long eyelashes, Highly arched eyebrow |
OMIM:619451 |
Mosaic Trisomy 1 |
|
Congenital bilateral ptosis, Downslanted palpebral fissures, Opacification of the corneal stroma |
ORPHA:1692 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Dysbetalipoproteinemia |
|
Xanthelasma, Corneal arcus, Angina pectoris |
ORPHA:412 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hypertelorism, Proptosis, Optic atrophy, Ptosis |
ORPHA:93262 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... |
ORPHA:98870 |
Hurler-Scheie Syndrome |
|
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation, Corneal opacity |
OMIM:607015 |
Digeorge Syndrome |
|
Sclerocornea, Hypertelorism, Blepharophimosis, Posterior embryotoxon, Short palpebral fissure |
OMIM:188400 |
Cystinosis |
|
Retinopathy, Corneal opacity, Portal hypertension |
ORPHA:213 |
Ichthyosis, Congenital, Autosomal Recessive 4B |
|
Proptosis, Ectropion |
OMIM:242500 |
Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
Sitosterolemia 1 |
|
Abnormal bleeding, Xanthelasma, Corneal arcus |
OMIM:210250 |
Neurodevelopmental Disorder With Absent Language And Variable Seizures |
|
Upslanted palpebral fissure, Deeply set eye, Cafe-au-lait spot, Proptosis |
OMIM:618707 |
Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Epicanthus, Palpebral edema, Hypertelorism, Sparse eyebrow, Congestive hear... |
OMIM:252500 |
Glaucoma, Primary Closed-Angle |
|
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio |
OMIM:618880 |
Microphthalmia, Syndromic 6 |
|
Microcornea, Retinal dystrophy, Orbital cyst, Sclerocornea |
OMIM:607932 |
H Syndrome |
|
Abnormal eyebrow morphology, Abnormal cardiovascular system physiology, Upper eyelid edema, Corne... |
ORPHA:168569 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Proptosis, Long eyelashes, Hypertelorism |
OMIM:618577 |
Nail-Patella Syndrome |
|
Antecubital pterygium, Abnormal iris pigmentation, Primary congenital glaucoma, Lester's sign |
ORPHA:2614 |
Cutis Laxa, Autosomal Dominant 3 |
|
Aortic regurgitation, Corneal opacity, Developmental cataract |
OMIM:616603 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume |
OMIM:185000 |
Cinca Syndrome |
|
Papilledema, Proptosis, Uveitis |
OMIM:607115 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Cataract, Peters anomaly, Persistent pupillary membrane |
OMIM:613150 |
Lathosterolosis |
|
Epicanthus, Cataract, Opacification of the corneal stroma, Downslanted palpebral fissures, Ptosis |
OMIM:607330 |
Multiple System Atrophy 1, Susceptibility To |
|
Tremor, Iris atrophy, Orthostatic hypotension, Ptosis |
OMIM:146500 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Premature Aging Syndrome, Penttinen Type |
|
Corneal opacity, Hypertelorism, Hypermyelinated retinal nerve fibers, Hypotelorism, Corneal strom... |
OMIM:601812 |
Marburg Hemorrhagic Fever |
|
Abnormal bleeding, Shock, Tachycardia, Pericarditis, Excessive bleeding after a venipuncture, Hyp... |
ORPHA:99826 |
Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Telangiectasia of the skin, Leukocoria, Multiple cafe-au-lait spots, Subcutan... |
ORPHA:1556 |
Muenke Syndrome |
|
Hypertelorism, Proptosis, Downslanted palpebral fissures, Ptosis |
OMIM:602849 |
X-Linked Sideroblastic Anemia |
|
Pallor |
ORPHA:75563 |
Lethal Osteosclerotic Bone Dysplasia |
|
Proptosis |
ORPHA:1832 |
Kniest Dysplasia |
|
Retinal detachment, Cataract, Proptosis |
OMIM:156550 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Mucopolysaccharidosis, Type Iva |
|
Opacification of the corneal stroma |
OMIM:253000 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Growth delay, Short stature, Pallor |
OMIM:615631 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Abnormality of retinal pigmentation, Nongranulomatous uveitis, Cataract, Choroidal neovasculariza... |
ORPHA:91500 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Peripheral opacification of the cornea, Corneal opacity, Hypermelanotic macule, Hypertelorism, Pr... |
OMIM:259600 |
Visual Impairment And Progressive Phthisis Bulbi |
|
Flat cornea, Ptosis |
OMIM:618283 |
Stuve-Wiedemann Syndrome 1 |
|
Deeply set eye, Blotching pigmentation of the skin, Opacification of the corneal stroma, Pulmonar... |
OMIM:601559 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Proptosis, Downslanted palpebral fissures |
OMIM:618821 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Cataract, Keratoconjunctivitis, Band keratopathy |
OMIM:269200 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Cockayne Syndrome B |
|
Tremor, Optic atrophy, Developmental cataract, Microcornea, Hypoplasia of the iris, Hypertension,... |
OMIM:133540 |
Charcot-Marie-Tooth Disease Type 4C |
|
Abnormal pupillary light reflex, Optic atrophy, Anisocoria, Abnormal optic nerve morphology, Head... |
ORPHA:99949 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Pterygium, Proptosis, Developmental cataract |
ORPHA:1865 |
Juvenile Nasopharyngeal Angiofibroma |
|
Proptosis, Epistaxis |
ORPHA:289596 |
Muenke Syndrome |
|
Hypopigmentation of hair, Hypermelanotic macule, Hypertelorism, Hypopigmented skin patches, Propt... |
ORPHA:53271 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Choroidal neovascularization, Congestive heart fail... |
OMIM:264800 |
Otospondylomegaepiphyseal Dysplasia |
|
Retinal detachment, Cataract, Proptosis, Degenerative vitreoretinopathy |
ORPHA:1427 |
Hermansky-Pudlak Syndrome 10 |
|
Hypotelorism, Dystonia, Ocular albinism, Albinism |
OMIM:617050 |
Neu-Laxova Syndrome |
|
Cataract, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash m... |
ORPHA:2671 |
Rheumatic Fever |
|
Pericarditis, Abnormal heart valve morphology, Myocarditis, Erythema, Endocarditis, Abnormal aort... |
ORPHA:3099 |
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 |
Sanjad-Sakati Syndrome |
|
Deeply set eye, Astigmatism, Corneal opacity |
ORPHA:2323 |
Jackson-Weiss Syndrome |
|
Hypertelorism, Proptosis, Ptosis |
ORPHA:1540 |
De Barsy Syndrome |
|
Epicanthus, Cataract, Corneal opacity, Hypertelorism, Deeply set eye, Athetosis, Downslanted palp... |
ORPHA:2962 |
Moebius Syndrome |
|
Epicanthus, Corneal opacity, Multiple cafe-au-lait spots, Blepharitis, Ptosis |
ORPHA:570 |
Mucopolysaccharidosis Type 3 |
|
Cataract, Corneal opacity, Synophrys, Optic atrophy, Atrioventricular block, Pigmentary retinopat... |
ORPHA:581 |
Distal Deletion 10Q |
|
Epicanthus, Hypotelorism, Upslanted palpebral fissure, Astigmatism, Proptosis, Downslanted palpeb... |
ORPHA:96148 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Corneal arcus, Proptosis, Hypertrichotic hyperpigmented patch, Pulmonic stenosis, Facial telangie... |
OMIM:602782 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Abnormality of retinal pigmentation, Bone spicule pigmentation of the retina, Abnormal pupillary ... |
ORPHA:364055 |
Vici Syndrome |
|
Epicanthus, Cataract, Hypopigmentation of hair, Macular atrophy, Albinism, Hypertelorism, Congest... |
OMIM:242840 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Almond-shaped palpebral fissure, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hyp... |
ORPHA:98754 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Almond-shaped palpebral fissure, Upslanted palpebral fissure, Generaliz... |
OMIM:176270 |
Yunis-Varon Syndrome |
|
Epicanthus, Cataract, Sparse eyelashes, Sclerocornea, Hypertelorism, Sparse eyebrow, Heart murmur... |
OMIM:216340 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Torticollis, White eyelashes, White eyebrow, Portal hypertension, Hypopigmented skin patches, Whi... |
OMIM:609136 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly |
OMIM:259730 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Epicanthus, Proptosis, Optic atrophy, Ptosis |
ORPHA:1185 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Almond-shaped palpebral fissure, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hyp... |
ORPHA:98793 |
Multiple Sulfatase Deficiency |
|
Corneal opacity, Retinal degeneration |
OMIM:272200 |
Hypophosphatasia, Childhood |
|
Proptosis |
OMIM:241510 |
Cinca Syndrome |
|
Retrobulbar optic neuritis, Uveitis, Proptosis, Pseudopapilledema, Purpura |
ORPHA:1451 |
Desbuquois Syndrome |
|
Abnormal eyelash morphology, Proptosis |
ORPHA:1425 |
Incontinentia Pigmenti |
|
Retinal detachment, Cataract, Corneal opacity, Telangiectasia of the skin, Abnormal chorioretinal... |
ORPHA:464 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Almond-shaped palpebral fissure, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hyp... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Almond-shaped palpebral fissure, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hyp... |
ORPHA:177901 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hypertelorism, Proptosis, Melanocytic nevus |
OMIM:612247 |
Isolated Congenital Alacrima |
|
Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, ... |
ORPHA:91416 |
Lujo Hemorrhagic Fever |
|
Shock, Resting tremor, Excessive bleeding after a venipuncture, Myocarditis, Subconjunctival hemo... |
ORPHA:319213 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Alagille Syndrome 1 |
|
Cataract, Band keratopathy, Hypertelorism, Abnormal anterior chamber morphology, Chorioretinal at... |
OMIM:118450 |
Tangier Disease |
|
Corneal opacity, Ectropion |
ORPHA:31150 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Pallor |
ORPHA:276556 |
Hurler Syndrome |
|
Corneal opacity, Angina pectoris, Abnormality of skin pigmentation, Cardiomyopathy, Hypertension,... |
ORPHA:93473 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia |
ORPHA:848 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Short stature, Pallor, Atrial septal defect, Intrauterine growth retar... |
OMIM:609053 |
Fucosidosis |
|
Corneal opacity |
ORPHA:349 |
Cockayne Syndrome A |
|
Cataract, Retinal atrophy, Tremor, Retinal pigment epithelial mottling, Optic atrophy, Abnormalit... |
OMIM:216400 |
Superficial Siderosis |
|
Abnormal bleeding, Subarachnoid hemorrhage, Anisocoria, Persistent bleeding after trauma, Interna... |
ORPHA:247245 |
Granulomatosis With Polyangiitis |
|
Diffuse alveolar hemorrhage, Keratitis, Retinal hemorrhage, Localized pulmonary hemorrhage, Uveit... |
OMIM:608710 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor |
ORPHA:276608 |
Gm1 Gangliosidosis |
|
Generalized dystonia, Corneal opacity, Tremor, Congestive heart failure, Abnormal retinal vascula... |
ORPHA:354 |
Periventricular Nodular Heterotopia 7 |
|
Deeply set eye, Proptosis, Optic disc pallor, Hypertelorism |
OMIM:617201 |
Hermansky-Pudlak Syndrome 2 |
|
Aberrant melanosome maturation, Prolonged bleeding time, Epicanthus, Albinism, Ocular albinism, U... |
OMIM:608233 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Corneal opacity, Atrial fibrillation... |
ORPHA:137675 |
Chédiak-Higashi Syndrome |
|
Abnormal bleeding, Abnormality of retinal pigmentation, Hypopigmentation of hair, Epistaxis, Trem... |
ORPHA:167 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Epicanthus, Proptosis, Telecanthus, Hypertelorism |
OMIM:263210 |
Filippi Syndrome |
|
Proptosis, Optic atrophy, Dystonia |
OMIM:272440 |
Mosaic Trisomy 8 |
|
Corneal opacity, Hypertelorism, Hypopigmented skin patches, Deeply set eye, Hypopigmentation of t... |
ORPHA:96061 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Vasculitis, Hematochezia, Subconjunctival hemorrhage, Vasculitis in the skin, Blepharitis |
OMIM:617718 |
Tbck-Related Intellectual Disability Syndrome |
|
Epicanthus, Corneal opacity, Synophrys, Upslanted palpebral fissure, Deeply set eye, Pulmonic ste... |
ORPHA:488632 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Hypertelorism, Synophrys, Upslanted palpebral fissure, Proptosis, Long eyelashes, Downslanted pal... |
OMIM:620250 |
Acrofrontofacionasal Dysostosis 2 |
|
Hypertelorism, Proptosis, Downslanted palpebral fissures, Ptosis |
OMIM:239710 |
20Q13.33 Microdeletion Syndrome |
|
Epicanthus, Highly arched eyebrow, Hypertelorism, Upslanted palpebral fissure, Hematochezia, Prop... |
ORPHA:261311 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hypopigmentation of the skin, Corneal opacity |
OMIM:163200 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Pallor |
ORPHA:276575 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Sparse eyelashes, Trichiasis, Keratitis, Sparse eyebrow, Corneal scarring, Keratoconjunctivitis s... |
OMIM:148210 |
Ogden Syndrome |
|
Torticollis, Proptosis, Cardiogenic shock, Arrhythmia, Downslanted palpebral fissures, Aplasia/Hy... |
ORPHA:276432 |
Prolidase Deficiency |
|
Hypertelorism, Diffuse telangiectasia, Proptosis, Petechiae, Ptosis |
OMIM:170100 |
Alpha-Mannosidosis, Infantile Form |
|
Aortic regurgitation, Optic disc pallor, Cataract, Corneal opacity, Highly arched eyebrow, Hypert... |
ORPHA:309282 |
Trisomy 8P |
|
Hypertelorism, Heart murmur, Upslanted palpebral fissure, Astigmatism, Heterochromia iridis |
ORPHA:264450 |
Shashi-Pena Syndrome |
|
Epicanthus, Highly arched eyebrow, Hypertelorism, Synophrys, Proptosis, Long eyelashes, Ptosis |
OMIM:617190 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Pallor |
ORPHA:276580 |
Ritscher-Schinzel Syndrome 4 |
|
Hypertelorism, Hypotelorism, Deeply set eye, Athetosis, Proptosis, Downslanted palpebral fissures |
OMIM:619435 |
Chime Syndrome |
|
Epicanthus, Corneal opacity, Hypertelorism, Upslanted palpebral fissure, Retinal coloboma, Ptosis |
ORPHA:3474 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Corneal opacity, Corneal dystrophy, Optic nerve hypoplasia, Sparse eyebrow, Synophrys, Buphthalmo... |
ORPHA:495875 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Familial Acute Necrotizing Encephalopathy |
|
Choroid hemorrhage |
ORPHA:88619 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Cataract, Corneal opacity, Corneal dystrophy, A... |
ORPHA:324 |
Congenital Myopathy 22A, Classic |
|
Tricuspid regurgitation, Bilateral ptosis, Synophrys, Deeply set eye, Proptosis, Bradycardia, Dow... |
OMIM:620351 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Hyperpigmented nevi, Cataract, Supraventricular arrhythmia, Band keratopathy |
ORPHA:2959 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Telecanthus, Sparse eyelashes, Hypertelorism, Sparse eyebrow, Dacryocystitis, Blue irides, Blepha... |
OMIM:129900 |
Oculodentodigital Dysplasia |
|
Epicanthus, Cataract, Hypertelorism, Optic atrophy, Abnormality iris morphology, Hypotelorism, Mi... |
ORPHA:2710 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Retinal atrophy, Optic atrophy, Buphthalmos, Hypoplasia of the retina, Retinal dysplasi... |
OMIM:253280 |
Saul-Wilson Syndrome |
|
Cataract, Proptosis |
OMIM:618150 |
Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Subconjunctival hemorrhage, Ecchymosis, Bruisi... |
ORPHA:464329 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Extramedullary hematopoiesis |
ORPHA:79303 |
Desbuquois Dysplasia 1 |
|
Developmental glaucoma, Proptosis |
OMIM:251450 |
Mosaic Trisomy 9 |
|
Upslanted palpebral fissure, Hypertelorism, Corneal opacity, Hypotelorism |
ORPHA:99776 |
Neonatal Marfan Syndrome |
|
Iridodonesis, Tricuspid regurgitation, Ectopia lentis, Heart murmur, Deeply set eye, Mitral regur... |
ORPHA:284979 |
Wilson Disease |
|
Kayser-Fleischer ring, Bruising susceptibility |
ORPHA:905 |
Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Ablepharon, Corneal opacity, Absent eyelashes, Corneal erosion, Abnormality of sk... |
ORPHA:920 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Corneal opacity, Optic nerve hypoplasia, Hypertelorism, Posterior subcapsular cataract, Optic dis... |
ORPHA:536471 |
Schimke Immuno-Osseous Dysplasia |
|
Corneal opacity, Transient ischemic attack, Hypermelanotic macule, Congestive heart failure, Hype... |
ORPHA:1830 |
Mucopolysaccharidosis Type 7 |
|
Corneal opacity |
ORPHA:584 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Telecanthus, Corneal opacity, Hypertelorism, Synophrys, Thin eyebrow, Cafe-au-lait spot, Short pa... |
OMIM:608670 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Epicanthus, Hypertelorism, Synophrys, Mitral regurgitation, Proptosis, Arrh... |
ORPHA:254346 |
Tyshchenko Syndrome |
|
Proptosis, Pulmonic stenosis, Ptosis |
OMIM:615102 |
Mucopolysaccharidosis, Type Vii |
|
Cardiomyopathy, Epicanthus, Corneal opacity, Thick eyebrow |
OMIM:253220 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Tricuspid regurgitation, Abnormal size of the palpebral fissures, Corneal dystrophy, Abnormal vit... |
ORPHA:1101 |
Blomstrand Lethal Chondrodysplasia |
|
Telecanthus, Cataract, Proptosis |
ORPHA:50945 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Cornelia De Lange Syndrome 1 |
|
Curly eyelashes, Highly arched eyebrow, Synophrys, Optic disc coloboma, Optic atrophy, Microcorne... |
OMIM:122470 |
Thanatophoric Dysplasia |
|
Proptosis, Downslanted palpebral fissures |
ORPHA:2655 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype... |
ORPHA:340 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Proptosis, Ptosis |
ORPHA:2522 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Cataract, Corneal opacity, Retinal atrophy, Optic nerve hypoplasia, Optic atr... |
OMIM:236670 |
Optic Pathway Glioma |
|
Papilledema, Proptosis, Optic atrophy |
ORPHA:2086 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Pericarditis, Generalized hyperpigmentation, Myocardial infarction, ... |
ORPHA:3452 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Telecanthus, Proptosis |
ORPHA:2774 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hypertelorism, Optic atrophy, Melanocytic nevus, Hypertension, Proptosis, Downslanted palpebral f... |
ORPHA:1555 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Spinocerebellar Ataxia Type 3 |
|
Proptosis, Dystonia |
ORPHA:98757 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Sparse eyelashes, Lacrimal duct stenosis, Sparse eyebrow, Dacryocystitis, Blue irides, Blepharoph... |
OMIM:604292 |
Fryns Syndrome |
|
Blepharophimosis, Narrow palpebral fissure, Opacification of the corneal stroma, Hypertelorism |
OMIM:229850 |
Frank-Ter Haar Syndrome |
|
Hypertelorism, Developmental glaucoma, Buphthalmos, Proptosis, Megalocornea, Cafe-au-lait spot, D... |
OMIM:249420 |
Cockayne Syndrome |
|
Miosis, Deeply set eye, Lentiglobus, Retinal arteriolar constriction, Retinal degeneration, Inten... |
ORPHA:191 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Epicanthus, Hypertelorism, Congestive ... |
ORPHA:363705 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Epicanthus, Hypertelorism, Optic atrophy, Proptosis, Thick eyebrow |
OMIM:614800 |
Fibrochondrogenesis 1 |
|
Megalocornea, Proptosis |
OMIM:228520 |
Localized Scleroderma |
|
Raynaud phenomenon, Vasculitis, Hypopigmented skin patches, Uveitis, Deeply set eye, Proptosis, A... |
ORPHA:90289 |
Myelofibrosis |
|
Pallor, Purpura |
OMIM:254450 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin... |
ORPHA:464321 |
Evans Syndrome |
|
Pallor, Petechiae |
ORPHA:1959 |
Oculocerebrorenal Syndrome Of Lowe |
|
Cataract, Corneal opacity, Chorioretinal dysplasia, Abnormal pupil morphology, Buphthalmos, Upsla... |
ORPHA:534 |
Down Syndrome |
|
Brushfield spots, Epicanthus, Upslanted palpebral fissure |
OMIM:190685 |
Hennekam-Beemer Syndrome |
|
Generalized hyperpigmentation, Telangiectasia of the skin, Optic atrophy, Upslanted palpebral fis... |
ORPHA:2135 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, Hypertelorism, Hypovole... |
ORPHA:91387 |
Mucopolysaccharidosis Type 1 |
|
Corneal opacity, Congestive heart failure, Optic atrophy, Hypertrophic cardiomyopathy, Retinopathy |
ORPHA:579 |
Fanconi Anemia |
|
Epicanthus, Cataract, Abnormal eyelid morphology, Almond-shaped palpebral fissure, Hypertelorism,... |
ORPHA:84 |
Mucopolysaccharidosis Type 4 |
|
Corneal opacity |
ORPHA:582 |
Weill-Marchesani Syndrome 2 |
|
Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Congestive heart failure, Microspherophaki... |
OMIM:608328 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Short stature, Pallor |
OMIM:611590 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Proptosis |
ORPHA:2776 |
Focal Dermal Hypoplasia |
|
Telangiectasia of the skin, Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Abnormality ... |
ORPHA:2092 |
Vascular Malformation, Primary Intraosseous |
|
Proptosis, Gingival bleeding |
OMIM:606893 |
20Q11.2 Microduplication Syndrome |
|
Epicanthus, Palpebral edema, Proptosis, Abnormal shape of the palpebral fissure, Lingual dystonia... |
ORPHA:363659 |
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations |
|
Proptosis, Optic atrophy |
OMIM:618346 |
Irida Syndrome |
|
Pallor |
ORPHA:209981 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Intrauterine growth retardation, Pallor |
OMIM:266200 |
Acrocraniofacial Dysostosis |
|
Telecanthus, Hypertelorism, Proptosis, Downslanted palpebral fissures, Ptosis |
ORPHA:949 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Epicanthus, Cataract, Corneal opacity, Abnormality of skin pigmentation, Mu... |
ORPHA:1052 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Retinal hemorrhage, Corneal scarring, Hypertension, Blotching pigmentation of the sk... |
OMIM:614653 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Cataract, Retinal atrophy, Retinal dystrophy, Subdural hemorrhage, Retinal hem... |
ORPHA:90324 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor |
ORPHA:324575 |
Elsahy-Waters Syndrome |
|
Cataract, Hypertelorism, Synophrys, Proptosis, Increased cup-to-disc ratio, Megalocornea, Downsla... |
OMIM:211380 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Growth delay, Pallor |
OMIM:615234 |
Congenital Disorder Of Deglycosylation 1 |
|
Corneal opacity, Hypertelorism, Action tremor, Athetosis, Corneal ulceration, Ptosis |
OMIM:615273 |
Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Epicanthus, Hypertelorism, Absent eyelashes, Optic nerve dysplasia, Proptosis, Mu... |
OMIM:115150 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Hypertelorism, Developmental glaucoma, Proptosis, Downslanted palpebral fissures, Thick eyebrow |
OMIM:245600 |
Distal Deletion 9P |
|
Upslanted palpebral fissure, Epicanthus, Proptosis, Hypertelorism |
ORPHA:1642 |
Bainbridge-Ropers Syndrome |
|
Epicanthus, Highly arched eyebrow, Hypertelorism, Synophrys, Upslanted palpebral fissure, Deeply ... |
OMIM:615485 |
Stickler Syndrome |
|
Retinal detachment, Epicanthus, Telecanthus, Cataract, Ectopia lentis, Hypertelorism, Abnormal vi... |
ORPHA:828 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Prolonged G2 phase of cell cycle, Reticulocytopenia, Anemia, Neutropenia, Leukemia,... |
OMIM:600901 |
Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Abnormal bleeding, Telecanthus, Hypoplastic lacrimal duct, Epicanthus, Telangiectasi... |
ORPHA:286 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Optic nerve dysplasia, Retinal dysplasia, Opacification of the corneal stroma |
OMIM:615287 |
Machado-Joseph Disease |
|
Dystonia, Proptosis, Ptosis |
OMIM:109150 |
Carpenter Syndrome |
|
Abnormal cornea morphology |
ORPHA:65759 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Resting tremor, Optic neuropathy, Abnormal eyelid morphology, Abnormal retinal... |
ORPHA:909 |
Marbach-Rustad Progeroid Syndrome |
|
Right bundle branch block, Proptosis, Shallow orbits, Pulmonary insufficiency, Intention tremor |
OMIM:619322 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Palpebral edema, Enlarged lacrimal glands, Abnormality of the orbital region, Abnormal lacrimal d... |
ORPHA:79078 |
Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Cataract, Band keratopathy, Choreoathetosis, Hypertension, Conjunctivitis,... |
ORPHA:79443 |
Leishmaniasis |
|
Pallor, Skin ulcer |
ORPHA:507 |
Arboleda-Tham Syndrome |
|
Epicanthus, Dystonia, Lacrimal duct stenosis, Highly arched eyebrow, Optic atrophy, Upper eyelid ... |
OMIM:616268 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Synophrys, Abnormality of skin pigmentation, Deeply set eye, Chorioretinal coloboma, Juvenile cat... |
OMIM:619475 |
American Trypanosomiasis |
|
Myocarditis, Cardiomyopathy, Pallor |
ORPHA:3386 |
Developmental And Epileptic Encephalopathy 80 |
|
Upslanted palpebral fissure, Optic disc pallor, Proptosis, Hypertelorism |
OMIM:618580 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
Graves Disease, Susceptibility To, 1 |
|
Congestive heart failure, Proptosis |
OMIM:275000 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Growth delay, Pallor, Delayed puberty |
OMIM:600462 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Retinal detachment, Optic disc pallor, Corneal opacity, Deeply set eye, Ast... |
ORPHA:464311 |
Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
|
Corneal ulceration, Corneal scarring |
OMIM:616488 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Proptosis, Ptosis |
ORPHA:1323 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Prolonged G2 phase of cell cycle, Reticulocytopenia, Anemia, Neutropenia, Leukemia,... |
OMIM:227650 |
Hypomandibular Faciocranial Dysostosis |
|
Upslanted palpebral fissure, Optic disc coloboma, Proptosis, Downslanted palpebral fissures |
ORPHA:1790 |
Cole-Carpenter Syndrome 2 |
|
Proptosis, Downslanted palpebral fissures, Hypertelorism |
OMIM:616294 |
Aminopterin/Methotrexate Embryofetopathy |
|
Epicanthus, Proptosis, Hypertelorism |
ORPHA:1908 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Prolonged G2 phase of cell cycle, Reticulocytopenia, Anemia, Neutropenia, Intrauter... |
OMIM:227645 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Fryns Syndrome |
|
Corneal opacity, Hypertelorism |
ORPHA:2059 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Epistaxis, Abnormal retinal vascular morphology, Congestive heart fa... |
ORPHA:33226 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Cataract, Highly arched eyebrow, Congestive heart failure, Synophrys, Proptosis, Long eyelashes, ... |
ORPHA:444077 |
Larsen Syndrome |
|
Hypertelorism, Corneal opacity, Shallow orbits |
OMIM:150250 |
Kosaki Overgrowth Syndrome |
|
Xanthelasma, Proptosis, Downslanted palpebral fissures, Ptosis |
OMIM:616592 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia |
ORPHA:2169 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hypertelorism, Proptosis, Portal hypertension, Ptosis |
OMIM:613385 |
Pontocerebellar Hypoplasia, Type 10 |
|
Highly arched eyebrow, Synophrys, Proptosis, Long eyelashes, Long palpebral fissure |
OMIM:615803 |
Zygomycosis |
|
Gastrointestinal hemorrhage, Retinal detachment, Pericarditis, Epistaxis, Hematemesis, Myocarditi... |
ORPHA:73263 |
Idiopathic Pulmonary Hemosiderosis |
|
Pallor, Cardiomegaly |
ORPHA:99931 |
Proteus Syndrome |
|
Abnormality of retinal pigmentation, Central heterochromia, Cataract, Generalized hyperpigmentati... |
ORPHA:744 |
Fgfr2-Related Bent Bone Dysplasia |
|
Extramedullary hematopoiesis, Hepatosplenomegaly |
ORPHA:313855 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Retinal detachment, Cataract, Keratitis, Retinal vascular proliferation,... |
OMIM:308300 |
Atelosteogenesis Type I |
|
Telecanthus, Proptosis, Retinal dysplasia, Hypertelorism |
ORPHA:1190 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Congestive heart failure, Punctate opacification of the cornea, Premature graying of hair, Propto... |
OMIM:256040 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90037 |
Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
Roberts-Sc Phocomelia Syndrome |
|
Cataract, Corneal opacity, Hypertelorism, Eyelid coloboma, Proptosis, Opacification of the cornea... |
OMIM:268300 |
Antley-Bixler Syndrome |
|
Proptosis, Downslanted palpebral fissures, Hypertelorism |
ORPHA:83 |
Kindler Epidermolysis Bullosa |
|
Abnormality of skin pigmentation, Ectropion, Conjunctivitis, Corneal opacity |
ORPHA:2908 |
Short Stature With Microcephaly And Distinctive Facies |
|
Telecanthus, Sparse eyebrow, Spotty hypopigmentation, Proptosis, Spotty hyperpigmentation |
OMIM:615789 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Corneal opacity, Depigmentation/hyperpigmentation of skin, Generalized reticulate brown pigmentat... |
ORPHA:79396 |
Mucopolysaccharidosis, Type Vi |
|
Tricuspid regurgitation, Corneal opacity, Cardiomyopathy, Mitral regurgitation, Pulmonary arteria... |
OMIM:253200 |
Microhydranencephaly |
|
Athetosis, Proptosis |
OMIM:605013 |
Marshall-Smith Syndrome |
|
Bruising susceptibility, Optic atrophy, Proptosis, Hypertelorism |
ORPHA:561 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hypertelorism, Optic atrophy, Hypertension, Proptosis, Downslanted palpebral fissures, Ptosis |
OMIM:123790 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Proptosis |
OMIM:614078 |
Bohring-Opitz Syndrome |
|
Epicanthus, Hypertelorism, Upslanted palpebral fissure, Proptosis, Abnormal optic nerve morphology |
OMIM:605039 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Upslanted palpebral fissure, Proptosis, Downslanted palpebral fissures, Hypertelorism |
OMIM:611209 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Optic disc pallor, Corneal opacity, Deeply set eye, Astigmatism, Aortic val... |
ORPHA:464306 |
Dyggve-Melchior-Clausen Disease |
|
Corneal opacity |
ORPHA:239 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Torticollis, Microcornea, Proptosis, Peripapillary atrophy, Bruising susceptibility |
ORPHA:536467 |
Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Prolonged QT interval, Optic nerve hypoplasia, Proptosis, Shallow orbits, Pulmonary arterial hype... |
OMIM:620029 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormality of retinal pigmentation, Papilledema, Corneal opacity, Abnormal foveal morphology, Op... |
ORPHA:217085 |
Familial Infantile Myoclonic Epilepsy |
|
Blepharospasm, Proptosis |
ORPHA:352582 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Hypotelorism, Proptosis, Downslanted palpebral fissures, Ptosis |
ORPHA:2215 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
Peters Plus Syndrome |
|
Cataract, Corneal opacity, Hypertelorism, Optic atrophy, Microcornea, Upslanted palpebral fissure... |
ORPHA:709 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormality of retinal pigmentation, Papilledema, Corneal opacity, Abnormal foveal morphology, Op... |
ORPHA:217093 |
Caffey Disease |
|
Proptosis |
ORPHA:1310 |
Tarp Syndrome |
|
Intrauterine growth retardation, Extramedullary hematopoiesis |
ORPHA:2886 |
Wiedemann-Rautenstrauch Syndrome |
|
Absent eyebrow, Cataract, Entropion, Sparse eyelashes, Hypertelorism, Absent eyelashes, Sparse ey... |
OMIM:264090 |
Hyperostosis Cranialis Interna |
|
Proptosis, Optic atrophy |
OMIM:144755 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Papilledema, Corneal opacity, Pulmonary arterial hypertension, ... |
ORPHA:2072 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Hypertelorism, Tremor, Synophrys, Nasolacrimal duct obstruction, Deeply set eye, Proptosis, Dysto... |
OMIM:300966 |
Witteveen-Kolk Syndrome |
|
Medial flaring of the eyebrow, Epicanthus, Cataract, Hypertelorism, Anisocoria, Intracranial hemo... |
OMIM:613406 |
Fraser Syndrome 1 |
|
Absent eyebrow, Corneal opacity, Hypertelorism, Absent eyelashes, Upper eyelid coloboma, Lacrimal... |
OMIM:219000 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Corneal opacity, Abnormal nasolacrimal system morphology, Abnormal eyelid morphol... |
ORPHA:2273 |
Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
Williams Syndrome |
|
Myocardial infarction, Tremor, Megalocornea, Sudden cardiac death, Blue irides, Aplasia/Hypoplasi... |
ORPHA:904 |
Loeys-Dietz Syndrome 5 |
|
Hypertelorism, Mitral regurgitation, Proptosis, Long palpebral fissure, Bruising susceptibility, ... |
OMIM:615582 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
Cole-Carpenter Syndrome 1 |
|
Proptosis, Orbital craniosynostosis, Shallow orbits |
OMIM:112240 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Pallor |
ORPHA:3226 |
Hutchinson-Gilford Progeria Syndrome |
|
Aortic regurgitation, Absent eyebrow, Corneal opacity, Mitral stenosis, Angina pectoris, Nocturna... |
ORPHA:740 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
Limb Body Wall Complex |
|
Lens subluxation, Corneal opacity, Iris coloboma, Hypertelorism |
ORPHA:2369 |
Thanatophoric Dysplasia Type 2 |
|
Proptosis |
ORPHA:93274 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Hypotelorism, Proptosis, Chorioretinal coloboma, Cyclopi... |
OMIM:157170 |
Nestor-Guillermo Progeria Syndrome |
|
Sparse eyelashes, Sparse eyebrow, Right bundle branch block, Hypertension, Mitral regurgitation, ... |
OMIM:614008 |
Alacrima, Congenital, Autosomal Dominant |
|
Lacrimal gland hypoplasia, Punctate corneal epithelial erosions, Lacrimal punctal atresia |
OMIM:103420 |
Acquired Idiopathic Sideroblastic Anemia |
|
Pallor |
ORPHA:75564 |
Okamoto Syndrome |
|
Hypertelorism, Astigmatism, Proptosis, Long palpebral fissure, Aortic valve stenosis, Ptosis |
ORPHA:2729 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Proptosis, Telangiectasia of the skin |
OMIM:615381 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor |
OMIM:246450 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Proptosis, Downslanted palpebral fissures |
ORPHA:85184 |
Chitayat Syndrome |
|
Proptosis, Hypertelorism |
OMIM:617180 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Corneal opacity, Congestive heart failure, Developmental cataract, Mitral r... |
ORPHA:90348 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Epicanthus, Tricuspid regurgitation, Telecanthus, Hypertelorism, Upslanted palpebral fissure, Pro... |
OMIM:616894 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Proptosis, Long eyelashes, Hypertelorism |
OMIM:618529 |
Fibrochondrogenesis |
|
Proptosis, Downslanted palpebral fissures, Hypertelorism |
ORPHA:2021 |
Williams-Beuren Syndrome |
|
Medial flaring of the eyebrow, Epicanthus, Portal hypertension, Retinal arteriolar tortuosity, Bl... |
OMIM:194050 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal hemorr... |
OMIM:192315 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Shprintzen-Goldberg Syndrome |
|
Telecanthus, Hypertelorism, Mitral regurgitation, Proptosis, Downslanted palpebral fissures, Ptosis |
ORPHA:2462 |
Cole-Carpenter Syndrome |
|
Proptosis, Downslanted palpebral fissures |
ORPHA:2050 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Hypertelorism, Proptosis, Shallow orbits |
ORPHA:73230 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Proptosis, Downslanted palpebral fissures, Hypertelorism |
OMIM:235255 |
Myopathy, Mitochondrial, And Ataxia |
|
Growth delay, Short stature, Pallor |
OMIM:617675 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage |
OMIM:264420 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Telecanthus, Hypertelorism, Proptosis, Shallow orbits, Downslanted palpebral fissures, Ptosis |
OMIM:182212 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Cyclopia, Proptosis, Hypertelorism |
ORPHA:2165 |
Mucopolysaccharidosis Type 2 |
|
Abnormality of retinal pigmentation, Papilledema, Corneal opacity, Abnormal foveal morphology, Op... |
ORPHA:580 |
Desbuquois Dysplasia 2 |
|
Epicanthus, Synophrys, Proptosis |
OMIM:615777 |
17Q11 Microdeletion Syndrome |
|
Telangiectasia of the skin, Freckling, Hypermelanotic macule, Hypertelorism, Retinal vascular pro... |
ORPHA:97685 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Proximal Renal Tubular Acidosis |
|
Cataract, Hypovolemia, Band keratopathy |
ORPHA:47159 |
Prolidase Deficiency |
|
Abnormality of retinal pigmentation, White forelock, Proptosis, Hypertelorism |
ORPHA:742 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Proptosis |
OMIM:274300 |
Rift Valley Fever |
|
Abnormal bleeding, Retinitis, Hematemesis, Retinal hemorrhage, Uveitis, Macular edema, Melena, Re... |
ORPHA:319251 |
Jackson-Weiss Syndrome |
|
Proptosis |
OMIM:123150 |
Neu-Laxova Syndrome 1 |
|
Ablepharon, Cataract, Hypertelorism, Absent eyelashes, Proptosis, Pterygium |
OMIM:256520 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Hypertelorism, Eyelid coloboma, Proptosis, Downslanted palpebral fissures, Ptosis |
ORPHA:2211 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
Gaucher Disease |
|
Abnormal bleeding, Corneal opacity, Tremor, Cherry red spot of the macula, Abnormality of skin pi... |
ORPHA:355 |
Congenital Myopathy 17 |
|
Telecanthus, Proptosis, Downslanted palpebral fissures, Ptosis |
OMIM:618975 |
Baller-Gerold Syndrome |
|
Hypertelorism, Epicanthus, Proptosis, Hypotelorism |
ORPHA:1225 |
Rubinstein-Taybi Syndrome 1 |
|
Broad eyebrow, Epicanthus, Cataract, Highly arched eyebrow, Hypertelorism, Nasolacrimal duct obst... |
OMIM:180849 |
Acrocardiofacial Syndrome |
|
Mitral stenosis, Proptosis, Long eyelashes, Hypertelorism |
ORPHA:2008 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop... |
OMIM:127550 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Epicanthus, Hypertelorism, Proptosis, Downslanted palpebral fissures, Ptosis |
ORPHA:264200 |
Roberts Syndrome |
|
Cataract, Proptosis, Hypertelorism |
ORPHA:3103 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Pallor |
ORPHA:263455 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Proptosis, Portal hypertension, Ptosis |
ORPHA:228426 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Supraventricular arrhythmia, Raynaud phenomenon, Retinal arteriolar tortuosity, Retinal hemorrhag... |
OMIM:611773 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cataract, Corneal opacity, Prolonged bleeding following circumcision, Ptosis |
OMIM:274000 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Upslanted palpebral fissure, Proptosis, Hypertelorism |
OMIM:616331 |
Xylt1-Cdg |
|
Synophrys, Proptosis |
ORPHA:370930 |
Noonan Syndrome |
|
Abnormal bleeding, Hypertelorism, Melanocytic nevus, Proptosis, Arrhythmia, Downslanted palpebral... |
ORPHA:648 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Bilateral ptosis, Heart murmur, Upslanted palpebral fissure, Intracranial hemorrhage, Proptosis, ... |
ORPHA:163979 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Pallor |
ORPHA:90033 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Epicanthus, Proptosis, Mitral regurgitation, Hypertelorism |
ORPHA:457395 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Hypertelorism, Proptosis, Pulmonic stenosis, Generalized hypopigmentation, ... |
OMIM:222470 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Growth delay, Pallor |
ORPHA:300298 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Steatorrhea, Persistence of hemoglobin F,... |
OMIM:260400 |
Ciliary Dyskinesia, Primary, 1 |
|
Abnormal cornea morphology |
OMIM:244400 |
Retinal Arteries, Tortuosity Of |
|
Retinal arteriolar tortuosity, Retinal hemorrhage |
OMIM:180000 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Ogden Syndrome |
|
Epicanthus, Premature atrial contractions, Torticollis, Abnormal eyelid morphology, Sparse eyebro... |
OMIM:300855 |
Congenital Myopathy 22B, Severe Fetal |
|
Deeply set eye, Synophrys, Proptosis, Downslanted palpebral fissures |
OMIM:620369 |
Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Prolonged G2 phase of cell cycle, Reticulocytopenia, Anemia, Neutropenia, Leukemia,... |
OMIM:227646 |
Osteoporosis-Pseudoglioma Syndrome |
|
Iris atrophy, Cataract, Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Absent a... |
OMIM:259770 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Marshall-Smith Syndrome |
|
Optic nerve hypoplasia, Highly arched eyebrow, Synophrys, Premature ventricular contraction, Mela... |
OMIM:602535 |
1P36 Deletion Syndrome |
|
Abnormal eyebrow morphology, Epicanthus, Cataract, Dilated cardiomyopathy, Ocular albinism, Optic... |
ORPHA:1606 |
Donohue Syndrome |
|
Proptosis, Hypermelanotic macule |
OMIM:246200 |
Microcephaly 3, Primary, Autosomal Recessive |
|
Proptosis |
OMIM:604804 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Mitral regurgitation, Proptosis, Ectopia lentis |
OMIM:271640 |
X-Linked Intellectual Disability, Snyder Type |
|
Unilateral ptosis, Hypertelorism, Sparse eyebrow, Synophrys, Patchy hypo- and hyperpigmentation, ... |
ORPHA:3063 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Optic disc pallor, Optic nerve hypoplasia, Hypotelorism, Upslanted palpebral fissure, Abnormality... |
ORPHA:468631 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Proptosis |
OMIM:617895 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
Machado-Joseph Disease Type 1 |
|
Proptosis, Dystonia |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Proptosis, Dystonia |
ORPHA:276241 |
Letterer-Siwe Disease |
|
Pallor |
OMIM:246400 |
Erdheim-Chester Disease |
|
Xanthelasma, Proptosis, Congestive heart failure, Ptosis |
ORPHA:35687 |
Autosomal Recessive Robinow Syndrome |
|
Epicanthus, Hypertelorism, Upslanted palpebral fissure, Proptosis, Long eyelashes, Long palpebral... |
ORPHA:1507 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Hypertelorism, Sparse eyebrow, Upslanted palpebral fissure, Proptosis, Downslanted palpebral fiss... |
OMIM:617011 |
Autosomal Dominant Robinow Syndrome |
|
Epicanthus, Curly eyelashes, Hypertelorism, Upslanted palpebral fissure, Euryblepharon, Long eyel... |
ORPHA:3107 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Proptosis, Optic atrophy, Chorioretinal coloboma |
OMIM:210730 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ... |
ORPHA:900 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... |
ORPHA:758 |
Specc1L-Related Hypertelorism Syndrome |
|
Highly arched eyebrow, Hypertelorism, Proptosis, Arrhythmia, Downslanted palpebral fissures, Thic... |
ORPHA:1519 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Retinal hemorrhage, Angioid st... |
OMIM:177850 |
Sclerosteosis 1 |
|
Papilledema, Proptosis, Optic atrophy, Hypertelorism |
OMIM:269500 |
Restrictive Dermopathy 2 |
|
Proptosis |
OMIM:619793 |
Bohring-Opitz Syndrome |
|
Retinal atrophy, Hypertelorism, Synophrys, Optic atrophy, Proptosis, Bradycardia |
ORPHA:97297 |
Machado-Joseph Disease Type 3 |
|
Proptosis, Dystonia |
ORPHA:276244 |
Sponastrime Dysplasia |
|
Microcoria, Epicanthus, Cataract, Congenital aphakia |
ORPHA:93357 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Proptosis |
ORPHA:440354 |
Hereditary Folate Malabsorption |
|
Pallor |
ORPHA:90045 |
Raine Syndrome |
|
Proptosis, Downslanted palpebral fissures, Highly arched eyebrow, Hypertelorism |
OMIM:259775 |
Alg9-Cdg |
|
Telecanthus, Tricuspid regurgitation, Torticollis, Hypertelorism, Proptosis, Shallow orbits |
ORPHA:79328 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Hypertelorism, Sparse eyebrow, Upslanted palpebral fissure, Proptosis, Shallow orbits, Downslante... |
ORPHA:457359 |
Peripheral Primitive Neuroectodermal Tumor |
|
Abnormal bleeding, Torticollis, Proptosis |
ORPHA:370348 |
Branchioskeletogenital Syndrome |
|
Telecanthus, Highly arched eyebrow, Hypertelorism, Synophrys, Blepharochalasis, Eyelid coloboma, ... |
ORPHA:1299 |
Sepsis In Premature Infants |
|
Pallor, Petechiae, Purpura |
ORPHA:90051 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
Thanatophoric Dysplasia Type 1 |
|
Proptosis |
ORPHA:1860 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor |
ORPHA:348 |
Wiedemann-Rautenstrauch Syndrome |
|
Cataract, Corneal opacity, Entropion, Optic disc hypoplasia, Lagophthalmos, Hypertelorism, Tremor... |
ORPHA:3455 |
Melnick-Needles Syndrome |
|
Proptosis, Hypertelorism |
ORPHA:2484 |
Apert Syndrome |
|
Hypertelorism, Proptosis, Downslanted palpebral fissures, Shallow orbits |
OMIM:101200 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Hypertelorism, Narrow palpebral fissure, Proptosis, Bradycardia, Pulmonary insufficiency, Downsla... |
OMIM:614437 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Growth delay, Anemic pallor |
ORPHA:329971 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Hypertelorism, Right ventricular outlet tract obstruction, Proptosis, Long eyelashes, Long palpeb... |
OMIM:268310 |
Wilson Disease |
|
Limb dystonia, Tremor, Hand tremor, Kayser-Fleischer ring, Dystonia |
OMIM:277900 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor |
ORPHA:276621 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Tricuspid stenosis, Short stature, Pallor, Atrial septal defect, Intra... |
OMIM:105650 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Dilated cardiomyopathy, Pallor |
ORPHA:20 |
Dysostosis, Stanescu Type |
|
Proptosis, Hypertelorism |
ORPHA:1798 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Mottled pigmentation, Proptosis |
OMIM:608612 |
Pfeiffer Syndrome Type 1 |
|
Proptosis, Hypertelorism |
ORPHA:93258 |
Osteoglophonic Dysplasia |
|
Telecanthus, Hypertelorism, Proptosis, Shallow orbits, Downslanted palpebral fissures |
OMIM:166250 |
Beta-Ketothiolase Deficiency |
|
Pallor |
ORPHA:134 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Pallor |
OMIM:194380 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Hypertelorism, Downslanted palpebral fissures, Subretinal pigment epithelium hemorrhage |
ORPHA:357074 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Pallor |
ORPHA:331206 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Proptosis, Hypertelorism |
OMIM:156400 |
Degcags Syndrome |
|
Abnormal eyebrow morphology, Tachycardia, Hypopigmentation of hair, Hypertelorism, Abnormal eyela... |
OMIM:619488 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Dystonia, Tremor, Subdural hemorrhage, Retinal hemorrhage, Athetosis, Limb dystonia |
ORPHA:25 |
Meier-Gorlin Syndrome 7 |
|
Heart block, Second degree atrioventricular block, Proptosis, Thin eyebrow |
OMIM:617063 |
Neurooculorenal Syndrome |
|
Iris atrophy, Highly arched eyebrow |
OMIM:620305 |
Fumarase Deficiency |
|
Perimembranous ventricular septal defect, Pallor |
OMIM:606812 |
Imerslund-Gräsbeck Syndrome |
|
Pallor |
ORPHA:35858 |
Idiopathic Aplastic Anemia |
|
Retinal hemorrhage, Ecchymosis, Epistaxis, Gingival bleeding |
ORPHA:88 |
Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Absent eyelashes, Absent eyebrow, Proptosis |
ORPHA:85199 |
Non-Functioning Pituitary Adenoma |
|
Pallor |
ORPHA:91349 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Pallor |
OMIM:300908 |
Prolactinoma |
|
Pallor, Delayed puberty |
ORPHA:2965 |
Lethal Congenital Contracture Syndrome 5 |
|
Subdural hemorrhage, Retinal hemorrhage |
OMIM:615368 |
Craniosynostosis 4 |
|
Proptosis, Optic nerve hypoplasia, Hypertelorism |
OMIM:600775 |
Adenohypophysitis |
|
Pallor |
ORPHA:95512 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Proptosis |
OMIM:215150 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Deeply set eye, Proptosis, Opisthotonus |
ORPHA:508533 |
Pseudoaminopterin Syndrome |
|
Epicanthus, Highly arched eyebrow, Hypertelorism, Proptosis, Blepharophimosis |
ORPHA:221120 |
Meester-Loeys Syndrome |
|
Bruising susceptibility, Downslanted palpebral fissures, Proptosis, Hypertelorism |
OMIM:300989 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Epicanthus, Hypertelorism, Upslanted palpebral fissure, Right ventricular outlet tract obstructio... |
OMIM:180700 |
Panhypophysitis |
|
Pallor |
ORPHA:95513 |
Pycnodysostosis |
|
Proptosis |
ORPHA:763 |
Multiple Endocrine Neoplasia Type 2 |
|
Hypertensive crisis, Palpitations, Prominent corneal nerve fibers, Hypertension associated with p... |
ORPHA:653 |
Pfeiffer Syndrome Type 2 |
|
Proptosis, Hypertelorism |
ORPHA:93259 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
Sheehan Syndrome |
|
Dry skin, Pallor |
ORPHA:91355 |
Fetal Akinesia Deformation Sequence 1 |
|
Telecanthus, Hypertelorism, Proptosis, Blepharophimosis, Short palpebral fissure, Ptosis |
OMIM:208150 |
Esophageal Atresia |
|
Growth delay, Tetralogy of Fallot, Ventricular septal defect, Pallor |
ORPHA:1199 |
Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
Refractory Anemia With Excess Blasts |
|
Abnormal bleeding, Palpitations, Retinal hemorrhage |
ORPHA:86839 |
Pfeiffer Syndrome Type 3 |
|
Proptosis, Hypertelorism |
ORPHA:93260 |
Keppen-Lubinsky Syndrome |
|
Proptosis, Opisthotonus, Shallow orbits |
OMIM:614098 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Pallor |
ORPHA:29072 |
Catel-Manzke Syndrome |
|
Hypertelorism, Nasolacrimal duct obstruction, Upslanted palpebral fissure, Proptosis, Thin eyebrow |
OMIM:616145 |
Campomelic Dysplasia |
|
Proptosis, Hypertelorism |
ORPHA:140 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Pallor |
ORPHA:98849 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Proptosis |
OMIM:615349 |
Loeys-Dietz Syndrome 3 |
|
Cataract, Atrial fibrillation, Subarachnoid hemorrhage, Hypertelorism, Mitral regurgitation, Prop... |
OMIM:613795 |
Fontaine Progeroid Syndrome |
|
Tricuspid regurgitation, Aplastic/hypoplastic lacrimal glands, Hypertelorism, Synophrys, Proptosi... |
OMIM:612289 |
Hyperthyroidism, Nonautoimmune |
|
Tachycardia, Proptosis |
OMIM:609152 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Proptosis, Hyperpigmentation of the skin |
ORPHA:90154 |
Keppen-Lubinsky Syndrome |
|
Proptosis, Opisthotonus, Shallow orbits |
ORPHA:435628 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin |
ORPHA:423479 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Proptosis |
OMIM:207410 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Su... |
ORPHA:99125 |
Osteogenesis Imperfecta |
|
Aortic regurgitation, Bruising susceptibility, Corneal opacity, Cerebral hemorrhage |
ORPHA:666 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Tricuspid regurgitation, Sparse eyebrow, Mitral regurgitation, Proptosis, Shallow orbits |
OMIM:619127 |
Classical Ehlers-Danlos Syndrome |
|
Prolonged bleeding time, Epicanthus, Orthostatic hypotension, Dermatochalasis, Arterial rupture, ... |
ORPHA:287 |
Familial Gestational Hyperthyroidism |
|
Proptosis, Hand tremor |
ORPHA:99819 |
Tsh-Secreting Pituitary Adenoma |
|
Pericardial effusion, Pallor, Delayed puberty |
ORPHA:91347 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Proptosis, Hand tremor |
ORPHA:424 |
Lead Poisoning |
|
Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology |
ORPHA:330015 |
Idiopathic Hypereosinophilic Syndrome |
|
Dilated cardiomyopathy, Pallor, Myocardial eosinophilic infiltration |
ORPHA:3260 |
Autosomal Recessive Malignant Osteopetrosis |
|
Growth delay, Abnormal pulmonary valve morphology, Pallor |
ORPHA:667 |
Holoprosencephaly 3 |
|
Cyclopia, Proptosis, Hypotelorism |
OMIM:142945 |
Atelosteogenesis, Type I |
|
Proptosis, Hypertelorism |
OMIM:108720 |
Pearson Marrow-Pancreas Syndrome |
|
Erythema, Pallor |
OMIM:557000 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Mottled pigmentation, Proptosis |
OMIM:248370 |
Beckwith-Wiedemann Syndrome |
|
Choroideremia, Hypertrophic cardiomyopathy, Proptosis, Melanocytic nevus |
ORPHA:116 |
Meningioma |
|
Papilledema, Syncope, Proptosis, Cerebral hemorrhage |
ORPHA:2495 |
Osteopetrosis, Autosomal Recessive 7 |
|
Proptosis, Optic atrophy, Optic nerve compression |
OMIM:612301 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:847 |
Mullegama-Klein-Martinez Syndrome |
|
Proptosis, Curly eyelashes |
OMIM:301022 |
Von Hippel-Lindau Disease |
|
Myocarditis, Cardiomyopathy, Pallor |
ORPHA:892 |
Pallister-Killian Syndrome |
|
Telecanthus, Cataract, Sparse eyelashes, Epicanthus, Hypertelorism, Sparse eyebrow, Hyperpigmente... |
OMIM:601803 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
Melnick-Needles Syndrome |
|
Pulmonary arterial hypertension, Proptosis, Hypertelorism |
OMIM:309350 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Loss of eyelashes, Downslanted palpebral fissures, Proptosis, Thin eyebrow |
ORPHA:2636 |
Camurati-Engelmann Disease |
|
Proptosis, Optic nerve compression |
OMIM:131300 |
Schinzel-Giedion Syndrome |
|
Hypertelorism, Proptosis, Shallow orbits |
ORPHA:798 |
Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Pallor |
ORPHA:544482 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Proptosis |
ORPHA:93315 |
Camurati-Engelmann Disease |
|
Hypertrophic cardiomyopathy, Proptosis, Optic atrophy, Optic nerve compression |
ORPHA:1328 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse eyebrow, Hypertension, Proptosis, Sparse eyelashes |
OMIM:210710 |
Robinow Syndrome |
|
Proptosis, Pulmonic stenosis, Hypertelorism |
ORPHA:97360 |
Craniosynostosis And Dental Anomalies |
|
Papilledema, Proptosis, Downslanted palpebral fissures, Hypertelorism |
OMIM:614188 |
Viss Syndrome |
|
Ptosis, Epidural hemorrhage, Retinal detachment, Hypertelorism, Deeply set eye, Proptosis, Long p... |
OMIM:619472 |
Osteogenesis Imperfecta, Type Viii |
|
Proptosis |
OMIM:610915 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Proptosis, Hypertelorism |
OMIM:130070 |
Liver Disease, Severe Congenital |
|
Abnormal left ventricular function, Epicanthus, Proptosis, Systolic heart murmur |
OMIM:619991 |
Orofaciodigital Syndrome Type 4 |
|
Proptosis, Hypertelorism |
ORPHA:2753 |
Generalized Arterial Calcification Of Infancy |
|
Transient ischemic attack, Choroidal neovascularization, Abnormal retinal artery morphology, Reti... |
ORPHA:51608 |
Isolated Exencephaly |
|
Proptosis |
ORPHA:563612 |
Loeys-Dietz Syndrome 1 |
|
Proptosis, Hypertelorism |
OMIM:609192 |
Beckwith-Wiedemann Syndrome |
|
Cardiomyopathy, Proptosis |
OMIM:130650 |
Eisenmenger Syndrome |
|
Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia |
ORPHA:97214 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Proptosis, Hypertelorism |
OMIM:271665 |
Loeys-Dietz Syndrome 2 |
|
Proptosis, Hypertelorism |
OMIM:610168 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hypertension, Proptosis, Hypertelorism |
OMIM:201750 |
Osteogenesis Imperfecta, Type Vii |
|
Proptosis |
OMIM:610682 |
Goodpasture Syndrome |
|
Pallor |
OMIM:233450 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
|
OMIM:609129 |