Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal dystrophy, Corneal opacity, Band keratopathy |
OMIM:300779 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal dystrophy, Corneal opacity |
OMIM:609140 |
Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... |
OMIM:269400 |
Cornea Plana 2, Autosomal Recessive |
|
Corneal arcus, Corneal opacity, Decreased corneal thickness, Flat cornea, Sclerocornea |
OMIM:217300 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal dystrophy, Corneal opacity, Ataxia, Progressive cerebellar ataxia |
ORPHA:3177 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior... |
OMIM:604229 |
Brittle Cornea Syndrome 2 |
|
Keratoglobus, Megalocornea, Gait disturbance, Decreased corneal thickness, Corneal perforation, F... |
OMIM:614170 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Cataract-Microcornea Syndrome |
|
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy |
ORPHA:1377 |
Anterior Segment Dysgenesis 2 |
|
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... |
OMIM:610256 |
Congenital Primary Aphakia |
|
Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Regional Odontodysplasia |
|
Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta... |
ORPHA:83450 |
Pupillary Membrane, Persistence Of |
|
Megalocornea, Persistent pupillary membrane, Developmental cataract |
OMIM:178900 |
Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma, Delayed eruption of primary teeth, Failur... |
OMIM:180900 |
Mucous Membrane Pemphigoid |
|
Gingivitis, Oral mucosal blisters, Corneal opacity |
ORPHA:46486 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:1490 |
Microphthalmia, Syndromic 16 |
|
Sclerocornea |
OMIM:611038 |
Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Corneal opacity, Ectopia lentis |
OMIM:613086 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma, Ataxia |
OMIM:271310 |
Dentin Dysplasia, Type I |
|
Enamel hypoplasia, Microdontia, Oligodontia, Taurodontia, Pulp obliteration, Periapical bone loss... |
OMIM:125400 |
Corneal Dystrophy, Groenouw Type I |
|
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy |
OMIM:121900 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Amelogenesis Imperfecta, Type Ij |
|
Enamel hypoplasia, Widely spaced teeth, Carious teeth, Amelogenesis imperfecta, Increased overbite |
OMIM:617297 |
Amelogenesis Imperfecta |
|
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa... |
ORPHA:88661 |
Rodrigues Blindness |
|
Tooth malposition, Sclerocornea, Microcornea |
OMIM:268320 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Long philtrum, Ocular anterior segment dysgenesis, Microcornea, Iris coloboma, Sclerocornea |
OMIM:615145 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Hypomature dental enamel |
OMIM:613211 |
Microphthalmia With Brain And Digit Anomalies |
|
High palate, Microcornea, Iris coloboma, Cataract, Chorioretinal coloboma, Sclerocornea |
ORPHA:139471 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Median cleft palate, Corneal opacity, Microcornea |
ORPHA:2432 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Megalocornea, High palate, Deep anterior chamber, Ectopia lentis, Microspherophakia, Iridodonesis |
OMIM:251750 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Keratoconjunctivitis sicca, Microcornea, Cataract, Corneal dystrophy, Sclerocornea, Abnormality o... |
ORPHA:1806 |
Cataract 21, Multiple Types |
|
Cortical pulverulent cataract, Cerulean cataract, Microcornea, Iris coloboma, Peters anomaly, Cor... |
OMIM:610202 |
Thiel-Behnke Corneal Dystrophy |
|
Central corneal dystrophy, Astigmatism, Subepithelial corneal opacities, Opacification of the cor... |
ORPHA:98960 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
8Q21.11 Microdeletion Syndrome |
|
High palate, Iris hypopigmentation, Micrognathia, Short philtrum, Cataract, Narrow mouth, Downtur... |
ORPHA:284160 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Enamel hypomineralization, Carious teeth, Amelogenesis imperfecta, Anterior open-bite malocclusio... |
OMIM:204700 |
3Q29 Microduplication Syndrome |
|
High palate, Deep philtrum, Aniridia, Iris coloboma, Cataract, Cleft palate, Sclerocornea, Abnorm... |
ORPHA:251038 |
Macular Dystrophy, Corneal |
|
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea |
OMIM:217800 |
Megalocornea |
|
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... |
OMIM:309300 |
Oculoauricular Syndrome |
|
Posterior embryotoxon, Posterior synechiae of the anterior chamber, Iris cyst, Ocular anterior se... |
OMIM:612109 |
Lattice Corneal Dystrophy Type I |
|
Corneal scarring, Central opacification of the cornea, Corneal stromal edema, Lattice corneal dys... |
ORPHA:98964 |
Anterior Segment Dysgenesis 8 |
|
Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro... |
OMIM:617319 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal opacity, Corneal guttata, Corneal stromal edema |
OMIM:613267 |
Otodental Syndrome |
|
Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Pul... |
ORPHA:2791 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Enamel hypoplasia, Generalized microdontia, Taurodontia, Amelogenesis imperfecta |
OMIM:104530 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Dentinogenesis imperfecta, Odontodysplasia, Periapical bone loss, Anterior op... |
OMIM:125500 |
Amelogenesis Imperfecta, Type Iiib |
|
Amelogenesis imperfecta, Enamel hypomineralization |
OMIM:617607 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion |
OMIM:617217 |
Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
Gorlin-Chaudhry-Moss Syndrome |
|
Oligodontia, Hypoplasia of the maxilla, Astigmatism, Sclerocornea, Abnormality of the dentition |
ORPHA:2095 |
Oligodontia |
|
Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... |
ORPHA:99798 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Ring Dermoid Of Cornea |
|
Abnormal conjunctiva morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnorma... |
OMIM:180550 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,... |
OMIM:601631 |
Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Amelogenesis Imperfecta, Type Iiia |
|
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion |
OMIM:130900 |
Winchester Syndrome |
|
Gingival overgrowth, Corneal opacity |
OMIM:277950 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Taurodontia, Amelogenesis imperfecta, Anterior open-bite malocclusion,... |
OMIM:204650 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... |
OMIM:122000 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Anterior Segment Dysgenesis 6 |
|
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... |
OMIM:617315 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, ... |
OMIM:616221 |
Al-Gazali Syndrome |
|
Micrognathia, Corneal opacity, Sclerocornea |
OMIM:609465 |
Mietens Syndrome |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea |
ORPHA:2557 |
Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
Stickler Syndrome Type 2 |
|
Cleft palate, Cataract, Corneal opacity |
ORPHA:90654 |
Stromme Syndrome |
|
Wide mouth, Micrognathia, Microcornea, Iris coloboma, Peters anomaly, Cataract, Cleft palate, Scl... |
OMIM:243605 |
Corneal Endothelial Dystrophy |
|
Increased corneal thickness, Corneal dystrophy, Abnormal Descemet membrane morphology, Opacificat... |
OMIM:217700 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy |
OMIM:608470 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Hypomature enamel, Anterior open-bite malocclusion, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Amelogenesis Imperfecta, Type Iiic |
|
Amelogenesis imperfecta, Hypocalcification of dental enamel, Anterior open-bite malocclusion, Yel... |
OMIM:618386 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Cataract, Iris coloboma, Corneal opacity, Chorioretinal coloboma, Bilatera... |
ORPHA:1473 |
X-Linked Endothelial Corneal Dystrophy |
|
Nuclear cataract, Corneal opacity, Band keratopathy, Abnormal corneal endothelium morphology |
ORPHA:293621 |
Chromosome 8Q21.11 Deletion Syndrome |
|
High palate, Micrognathia, Short philtrum, Cataract, Downturned corners of mouth, Cleft palate, E... |
OMIM:614230 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Long philtrum, Microcornea, Cataract, Ectopia pupillae, Sclerocornea |
OMIM:615877 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Enamel hypoplasia, Abnormality of dental color, Amelogenesis imperfecta |
OMIM:616270 |
Anterior Segment Dysgenesis 4 |
|
Hypoplastic iris stroma, Iris hypopigmentation, Abnormality of the dentition |
OMIM:137600 |
Peters Anomaly |
|
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... |
ORPHA:708 |
Otodental Dysplasia |
|
Enamel hypoplasia, Long philtrum, Delayed eruption of teeth, Pulp calcification, Taurodontia, Age... |
OMIM:166750 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Dentinogenesis Imperfecta |
|
Abnormal dental root morphology, Yellow-brown discoloration of the teeth, Selective tooth agenesi... |
ORPHA:49042 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal degeneration, Descemet Membrane Folds, Corneal guttata, Corneal stromal edema, Corneal dy... |
OMIM:136800 |
Granular Corneal Dystrophy Type Ii |
|
Granular corneal dystrophy, Central opacification of the cornea, Corneal crystals, Subepithelial ... |
ORPHA:98963 |
Amelogenesis Imperfecta, Type Ie |
|
Enamel hypoplasia, Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dentin morp... |
OMIM:301200 |
Amelogenesis Imperfecta, Type Iv |
|
Enamel hypoplasia, Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Iris coloboma, Sclerocornea |
ORPHA:77298 |
Gómez-López-Hernández Syndrome |
|
Thin vermilion border, Corneal opacity, Ataxia |
ORPHA:1532 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Irregular astigmatism, Abnormal Descemet membrane morphology, Corneal stromal edema, Increased co... |
ORPHA:293603 |
Dentin Dysplasia, Type Ii |
|
Abnormal dentin morphology, Pulp calcification, Dentinogenesis imperfecta limited to primary teeth |
OMIM:125420 |
Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel... |
ORPHA:83451 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Cataract |
OMIM:610092 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
Iridocorneal Endothelial Syndrome |
|
Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... |
ORPHA:64734 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Delayed eruption of primary teeth, Sclerocornea |
OMIM:300952 |
Amoebic Keratitis |
|
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... |
ORPHA:67043 |
Bilateral Acute Depigmentation Of The Iris |
|
Abnormal iris pigmentation, Pigment deposition in the trabecular meshwork, Iris pigment dispersio... |
ORPHA:69736 |
Corneal Dystrophy, Posterior Amorphous |
|
Iris coloboma, Corneal dystrophy, Ectopia pupillae |
OMIM:612868 |
Posterior Polymorphous Corneal Dystrophy |
|
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... |
ORPHA:98973 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Iris coloboma, Chorioretinal coloboma |
OMIM:616428 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Limbal dermoid, Sclerocornea |
OMIM:613001 |
Exfoliation Syndrome |
|
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... |
OMIM:177650 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia |
OMIM:148200 |
Granular Corneal Dystrophy Type I |
|
Central corneal dystrophy, Abnormal corneal epithelium morphology, Central opacification of the c... |
ORPHA:98962 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Decreased corneal ... |
ORPHA:98969 |
Corneal Dystrophy, Meesmann, 1 |
|
Corneal dystrophy, Punctate opacification of the cornea |
OMIM:122100 |
Amelogenesis Imperfecta, Type Ik |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:620104 |
Van Den Ende-Gupta Syndrome |
|
High palate, Micrognathia, Dental crowding, Everted lower lip vermilion, Hypoplasia of the maxill... |
OMIM:600920 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Corneal scarrin... |
ORPHA:171673 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Thin vermilion border, Narrow mouth, Corneal opacity |
ORPHA:2370 |
Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
Fuchs Endothelial Corneal Dystrophy |
|
Reduced number of corneal endothelial cells, Abnormal Descemet membrane morphology, Corneal opaci... |
ORPHA:98974 |
2Q24 Microdeletion Syndrome |
|
Short philtrum, Abnormal oral frenulum morphology, Cataract, Cleft palate, Abnormality iris morph... |
ORPHA:1617 |
Ectopia Lentis Et Pupillae |
|
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Autosomal Dominant Keratitis |
|
Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neovascularization, Micr... |
ORPHA:2334 |
Short Syndrome |
|
Abnormal pupil morphology, Megalocornea, Abnormal mandible morphology, Posterior embryotoxon, Hyp... |
ORPHA:3163 |
Failure Of Tooth Eruption, Primary |
|
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth |
OMIM:125350 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
Wolf-Hirschhorn Syndrome |
|
Abnormality of the philtrum, Cleft upper lip, Megalocornea, Hypodontia, Abnormal lip morphology, ... |
ORPHA:280 |
Anterior Segment Dysgenesis 1 |
|
Ocular anterior segment dysgenesis, Posterior polar cataract, Microcornea, Peters anomaly, Opacif... |
OMIM:107250 |
Smith-Lemli-Opitz Syndrome |
|
Bifid tongue, Long philtrum, Wide mouth, Micrognathia, Advanced eruption of teeth, Abnormality of... |
ORPHA:818 |
Harel-Yoon Syndrome |
|
Mandibular prognathia, Inability to walk, Micrognathia, Developmental cataract, Ataxia, Corneal o... |
OMIM:617183 |
Alpha-Mannosidosis |
|
Dental malocclusion, Mandibular prognathia, Narrow palate, Widely spaced teeth, Craniofacial hype... |
ORPHA:61 |
Mucolipidosis Type Iii |
|
Cleft palate, Craniofacial hyperostosis, Corneal opacity |
ORPHA:577 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Mandibular prognathia, Long philtrum, Deep philtrum, Thick lower lip vermilion, Microcornea, Asti... |
OMIM:152950 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Iris coloboma, Peters anomaly, Cataract, Cleft palate, Sclerocornea |
OMIM:309801 |
Meckel Syndrome |
|
Aplasia/Hypoplasia of the tongue, Aplasia/Hypoplasia of the iris, Micrognathia, Abnormal choriore... |
ORPHA:564 |
Epithelial Recurrent Erosion Dystrophy |
|
Irregular astigmatism, Corneal scarring, Keratoconjunctivitis sicca, Subepithelial corneal opacit... |
ORPHA:293381 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal guttata, Corneal stromal edema, Abnormal Descemet membrane morphology, Keratitis, Corneal... |
OMIM:613270 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Dental enamel pits, Carious teeth |
OMIM:619787 |
Bartsocas-Papas Syndrome 2 |
|
Micrognathia, Axillary pterygium, Antecubital pterygium, Popliteal pterygium, Corneal opacity, Ac... |
OMIM:619339 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Micrognathia, Corneal opacity, Inability to walk |
OMIM:166300 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Iris hypopigmentation, Anterior synechiae of the anterior chamber, Tau... |
ORPHA:3214 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Ophthalmomandibulomelic Dysplasia |
|
Temporomandibular joint ankylosis, Obtuse angle of mandible, Megalocornea, Corneal opacity |
ORPHA:2741 |
Mucolipidosis Type Iv |
|
Microdontia, Gait disturbance, Ataxia, Everted lower lip vermilion, Corneal opacity |
ORPHA:578 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Conjunctivitis, Long philtrum, Wide mouth, Micrognathia, Oligodontia, Corneal opacity, Smooth phi... |
OMIM:602562 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Advanced eruption of teeth, Abnormality of dental morphology, Everted ... |
ORPHA:1028 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology |
ORPHA:3196 |
Neurocardiofaciodigital Syndrome |
|
Retrognathia, High palate, Cataract, Thin vermilion border, Sclerocornea |
OMIM:619869 |
Usher Syndrome Type 2 |
|
Iris hypopigmentation, Microdontia, Ataxia, Cataract, Carious teeth, Abnormality of dental color,... |
ORPHA:231178 |
Tricho-Retino-Dento-Digital Syndrome |
|
Oligodontia, Juvenile cataract, Supernumerary tooth, Abnormality of the dentition |
ORPHA:1264 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy, Corneal guttata |
OMIM:615523 |
Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
Aniridia 2 |
|
Lens subluxation, Cataract, Iris coloboma, Aniridia |
OMIM:617141 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Retrognathia, Mandibular aplasia, Posterior embryotoxon, Micrognathia, Corneal opacity, Chorioret... |
ORPHA:2556 |
Phace Syndrome |
|
Lens coloboma, Iris coloboma, Heterochromia iridis, Cataract, Sclerocornea |
ORPHA:42775 |
Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
Isolated Ectopia Lentis |
|
Mandibular prognathia, Ectopia lentis, Cataract, Ectopia pupillae, Malar flattening |
ORPHA:1885 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Hypodontia, Enamel hypoplasia, Carious teeth, Oral mucosal blisters |
OMIM:226650 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Aplasia/Hypoplasia of the iris, Corneal opacity, Chorioretinal coloboma |
ORPHA:137902 |
Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma, Gait disturbance |
OMIM:271630 |
Dermochondrocorneal Dystrophy |
|
Anterior cortical cataract, Corneal dystrophy, Gingival overgrowth, Subepithelial corneal opacities |
OMIM:221800 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Developmental glaucoma, Micrognathia, Downturned corners of mouth, Corneal opacity, Aniridia |
ORPHA:1064 |
Norrie Disease |
|
Abnormal pupil morphology, Hypoplasia of the iris, Anterior chamber synechiae, Abnormal chorioret... |
ORPHA:649 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Leukocoria, Posterior synechiae of the anterior chamber, Uveitis, Microcornea, Buphthalmos, Iris ... |
OMIM:221900 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Gait ataxia, Mandibular prognathia, Spastic gait, Micrognathia, Cataract, Corneal opacity |
ORPHA:496790 |
Van Der Woude Syndrome 2 |
|
Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate |
OMIM:606713 |
Impacted Teeth, Multiple |
|
Multiple impacted teeth, Supernumerary tooth |
OMIM:308280 |
Scheie Syndrome |
|
Mandibular prognathia, Corneal opacity |
OMIM:607016 |
Yunis-Varon Syndrome |
|
Gingival recession, Short upper lip, Broad secondary alveolar ridge, Micrognathia, Premature loss... |
ORPHA:3472 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Megalocornea, Rieger anomaly, Posterior embryotoxon, Abnormally prominent line of Schwalbe, Hypop... |
OMIM:180500 |
Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
Norrie Disease |
|
Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior chamber, Cataract, Corneal opac... |
OMIM:310600 |
Distal Monosomy 6P |
|
Posterior embryotoxon, Hypoplasia of the iris, Micrognathia, Anterior synechiae of the anterior c... |
ORPHA:96125 |
Sjogren-Larsson Syndrome |
|
Opacification of the corneal epithelium, Astigmatism, Enamel hypoplasia |
OMIM:270200 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
Oculomaxillofacial Dysostosis |
|
Micrognathia, Median cleft lip, Corneal opacity, Cleft palate, Abnormality of the dentition |
ORPHA:1794 |
Microphthalmia, Syndromic 3 |
|
Cataract, Sclerocornea |
OMIM:206900 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental malocclusion, Long philtrum, Macrodontia of permanent maxillary central incisor, Delayed e... |
OMIM:257850 |
Mucolipidosis Iv |
|
Opacification of the corneal stroma, Corneal opacity |
OMIM:252650 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Developmental cataract |
OMIM:618815 |
Mucopolysaccharidosis Type 4 |
|
Wide mouth, Grayish enamel, Gait disturbance, Corneal opacity, Carious teeth, Abnormality of the ... |
ORPHA:582 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Posterior embryotoxon, Posterior synechiae of the anterior chamber, Hypoplasia of the iris, Hypod... |
OMIM:602482 |
Atopic Keratoconjunctivitis |
|
Keratoconjunctivitis sicca, Corneal neovascularization, Corneal opacity, Chemosis, Keratitis |
ORPHA:163934 |
Weill-Marchesani Syndrome 4 |
|
Phakodonesis, Posterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chamb... |
OMIM:613195 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Microdontia, Anterior chamber synechiae, Hypodontia, Short philtrum, Micro... |
OMIM:601499 |
Juvenile Sialidosis Type 2 |
|
Ataxia, Dysmetria, Cataract, Protruding tongue, Corneal opacity, Loss of ambulation, Gingival ove... |
ORPHA:93399 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Tyrosinemia Type 2 |
|
Malar flattening, Corneal opacity, Ataxia |
ORPHA:28378 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Osteoporosis-Pseudoglioma Syndrome |
|
Loss of ambulation, Corneal opacity, Waddling gait |
ORPHA:2788 |
Sialidosis Type 2 |
|
Corneal opacity, Ataxia |
ORPHA:87876 |
Lowry-Maclean Syndrome |
|
Retrognathia, Talon cusp, Developmental glaucoma, Megalocornea, Delayed eruption of primary teeth... |
ORPHA:2409 |
Erythrokeratodermia Variabilis |
|
Cataract, Corneal opacity |
ORPHA:317 |
Sialidosis Type 1 |
|
Thick lower lip vermilion, Gait disturbance, Ataxia, Cataract, Corneal opacity |
ORPHA:812 |
Ophthalmomandibulomelic Dysplasia |
|
Temporomandibular joint ankylosis, Opacification of the corneal stroma, Megalocornea |
OMIM:164900 |
Amelocerebrohypohidrotic Syndrome |
|
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color, Yellow-b... |
ORPHA:1946 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Conical tooth, Dental malocclusion, Enamel hypoplasia, Microdontia, Oligodontia, Astigmatism, Cat... |
OMIM:618727 |
Digeorge Syndrome |
|
High palate, Posterior embryotoxon, Micrognathia, Bifid uvula, Short philtrum, Recurrent sinusiti... |
OMIM:188400 |
Microphthalmia, Syndromic 6 |
|
Retrognathia, High palate, Micrognathia, Bifid uvula, Microcornea, Microglossia, Cleft palate, Sc... |
OMIM:607932 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Choroideremia, Ocular albinism, Iris hypopigmentation, Microdontia, Ataxia, Cataract, Narrow mout... |
ORPHA:2719 |
Wagro Syndrome |
|
Mandibular prognathia, Micrognathia, Dental crowding, Cataract, Corneal opacity, Malar flattening... |
OMIM:612469 |
Bartsocas-Papas Syndrome |
|
Micrognathia, Median cleft lip, Popliteal pterygium, Narrow mouth, Corneal opacity, Cleft palate |
ORPHA:1234 |
Jalili Syndrome |
|
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology |
ORPHA:1873 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Conjunctivitis, Enamel hypoplasia, Cataract, Carious teeth, Keratitis |
OMIM:612843 |
Megalocornea-Intellectual Disability Syndrome |
|
Megalocornea, High palate, Hypoplasia of the iris, Micrognathia, Short philtrum, Ataxia, Everted ... |
ORPHA:2479 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Corneal opacity, Conical primary incisor |
OMIM:602400 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Cleft mandible, Prominence of the zygomatic bone, Pierre-Robin sequence, Oligodontia, Everted low... |
ORPHA:364577 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Long philtrum, Inability to walk, Ataxia, Abnormal cornea morphology, Corneal opacity, Athetosis |
ORPHA:357058 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity |
ORPHA:290 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Wide mouth, Widely spaced teeth, Grayish enamel, Ataxia, Corneal opacity, ... |
OMIM:253010 |
Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Iris hypopigmentation, Astigmatism, Ocular albinism |
ORPHA:54 |
Sanjad-Sakati Syndrome |
|
Long philtrum, Micrognathia, Astigmatism, Corneal opacity, Thin vermilion border, Abnormality of ... |
ORPHA:2323 |
Fish-Eye Disease |
|
Corneal opacity |
ORPHA:79292 |
Scheie Syndrome |
|
Everted lower lip vermilion, Corneal opacity, Wide mouth, Thick vermilion border |
ORPHA:93474 |
Dyschondrosteosis-Nephritis Syndrome |
|
Microdontia, Corneal opacity |
ORPHA:1765 |
Triopia |
|
Abnormal pupil morphology, Median cleft lip, Microcornea, Iris coloboma, Cleft palate |
ORPHA:3374 |
Alpha-Mannosidosis, Adult Form |
|
Cataract, Corneal opacity, Ataxia, Macroglossia |
ORPHA:309288 |
Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
Congenital Sialidosis Type 2 |
|
Developmental cataract, Ataxia, Cataract, Protruding tongue, Dysmetria, Corneal opacity, Gingival... |
ORPHA:93400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Corneal opacity |
OMIM:613153 |
Zellweger Syndrome |
|
Brushfield spots, High palate, Posterior embryotoxon, Micrognathia, Abnormal chorioretinal morpho... |
ORPHA:912 |
Aniridia 1 |
|
Corneal erosion, Hypoplasia of the iris, Corneal neovascularization, Anterior subcapsular catarac... |
OMIM:106210 |
Persistent Hyperplastic Primary Vitreous |
|
Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow anterior chamber, Cataract,... |
ORPHA:91495 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Retrognathia, Dental malocclusion, Phakodonesis, High palate, Anterior synechiae of the anterior ... |
OMIM:601552 |
Hurler-Scheie Syndrome |
|
Corneal opacity |
ORPHA:93476 |
Familial Dysautonomia |
|
Abnormal pupil morphology, Corneal erosion, Gait disturbance, Ataxia, Heterochromia iridis, Corne... |
ORPHA:1764 |
Woolly Hair |
|
Abnormal pupil morphology, Cataract |
ORPHA:170 |
Craniolenticulosutural Dysplasia |
|
High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Posterior Y-sutural cataract, ... |
ORPHA:50814 |
Walker-Warburg Syndrome |
|
Bifid uvula, Submucous cleft hard palate, Microcornea, Iris coloboma, Cataract, Corneal opacity, ... |
ORPHA:899 |
Cutis Laxa, Autosomal Dominant 3 |
|
Corneal opacity, Developmental cataract |
OMIM:616603 |
Megalocornea-Mental Retardation Syndrome |
|
Megalocornea, High palate, Long philtrum, Hypoplasia of the iris, Micrognathia, Bifid uvula, Atax... |
OMIM:249310 |
Trisomy 9P |
|
Abnormal pupil morphology, Non-midline cleft lip, Downturned corners of mouth, Dental crowding, I... |
ORPHA:236 |
Ameloonychohypohidrotic Syndrome |
|
Marked delay in eruption of permanent teeth, Hypocalcification of dental enamel, Yellow-brown dis... |
OMIM:104570 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity |
OMIM:618961 |
Yunis-Varon Syndrome |
|
Short upper lip, High palate, Micrognathia, Premature loss of primary teeth, Hypoplastic facial b... |
OMIM:216340 |
Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity |
ORPHA:281090 |
Oculodentodigital Dysplasia |
|
Non-midline cleft lip, Mandibular prognathia, Micrognathia, Broad alveolar ridges, Taurodontia, P... |
ORPHA:2710 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Ankyloglossia, Supernumerary tooth |
OMIM:106280 |
Coloboma, Ocular, Autosomal Dominant |
|
Peters anomaly, Corneal opacity, Chorioretinal coloboma |
OMIM:120200 |
Gm1 Gangliosidosis |
|
Mandibular prognathia, Long philtrum, Gait disturbance, Macroglossia, Ataxia, Narrow mouth, Corne... |
ORPHA:354 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity |
ORPHA:1867 |
Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
Phacoanaphylactic Uveitis |
|
Corneal keratic precipitates, Abnormal pupil morphology, Posterior synechiae of the anterior cham... |
ORPHA:209959 |
Oculocerebrocutaneous Syndrome |
|
Iris coloboma, Corneal opacity, Wide mouth, Orofacial cleft |
ORPHA:1647 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Hypodontia, Abnormality of dental morphology, Gait disturbance, Abnorm... |
ORPHA:464 |
Olmsted Syndrome 1 |
|
Opacification of the corneal stroma, Corneal opacity |
OMIM:614594 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Abnormality of dental morphology, Abnormality of dental color, Corneal opacity |
OMIM:163200 |
Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
Cystinosis |
|
Gait disturbance, Corneal opacity |
ORPHA:213 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the tongue, High palate, Micrognathia, Microdontia, Everted lower lip vermi... |
ORPHA:570 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Cleft mandible, High palate, Pierre-Robin sequence, Long philtrum, Exaggerated median tongue furr... |
OMIM:608670 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Delayed eruption of teeth, Micrognathia, Gait disturbance, Peripheral opacification of the cornea... |
OMIM:259600 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Cataract, Corneal opacity, Conjunctival hyperemia |
ORPHA:2399 |
Hurler-Scheie Syndrome |
|
Micrognathia, Corneal opacity, Thick vermilion border |
OMIM:607015 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Iris flocculi |
OMIM:611788 |
1Q41Q42 Microdeletion Syndrome |
|
Cleft palate, Submucous cleft hard palate, Thick vermilion border, Abnormality iris morphology |
ORPHA:250999 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Enamel hypoplasia, Corneal pterygium, Symblepharon, Amelogenesis imperfecta |
OMIM:245660 |
Lcat Deficiency |
|
Corneal opacity |
ORPHA:650 |
Coats Disease |
|
Leukocoria |
OMIM:300216 |
Focal Dermal Hypoplasia |
|
Hypoplasia of the iris, Abnormality of dental morphology, Ectopia lentis, Iris coloboma, Tooth ag... |
ORPHA:2092 |
Multiple Sulfatase Deficiency |
|
Cataract, Corneal opacity, Smooth philtrum |
ORPHA:585 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hypodontia, Astigmatism, Retrognathia, Corneal opacity |
OMIM:301056 |
Charcot-Marie-Tooth Disease Type 1E |
|
Abnormal pupil morphology, Gait imbalance, Inability to walk, Gait disturbance, Steppage gait, Di... |
ORPHA:90658 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Corneal scarring, Keratitis, Opacification of the corneal stroma, Recurrent corneal erosions, Cor... |
OMIM:256800 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Cataract, Megalocornea, Macroglossia, Abnormality iris morphology |
ORPHA:370959 |
De Barsy Syndrome |
|
High palate, Delayed eruption of teeth, Cataract, Narrow mouth, Corneal opacity, Small, conical t... |
ORPHA:2962 |
Proteus-Like Syndrome |
|
Abnormal pupil morphology, Mandibular prognathia, Limbal dermoid, Cataract, Heterochromia iridis,... |
ORPHA:2969 |
Oculocerebrorenal Syndrome Of Lowe |
|
Gingivitis, Delayed eruption of teeth, Micrognathia, Taurodontia, Everted lower lip vermilion, Bu... |
ORPHA:534 |
Fryns Syndrome |
|
Non-midline cleft lip, High palate, Long philtrum, Wide mouth, Micrognathia, Median cleft lip, Te... |
ORPHA:2059 |
Premature Aging Syndrome, Penttinen Type |
|
Retrognathia, Delayed eruption of teeth, Micrognathia, Narrow philtrum, Corneal stromal edema, Hy... |
OMIM:601812 |
Fucosidosis |
|
Corneal opacity, Abnormality of the dentition |
ORPHA:349 |
Proboscis Lateralis |
|
Abnormal paranasal sinus morphology, High palate, Long philtrum, Abnormal ethmoid bone morphology... |
ORPHA:141099 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology |
ORPHA:2151 |
Hec Syndrome |
|
Abnormal pupil morphology, Developmental cataract |
ORPHA:2119 |
Schimke Immuno-Osseous Dysplasia |
|
Hypodontia, Microdontia, Abnormality of primary molar morphology, Corneal opacity |
ORPHA:1830 |
Late-Onset Retinal Degeneration |
|
Abnormal anterior eye segment morphology, Abnormal suspensory ligament of lens morphology, Iris t... |
ORPHA:67042 |
Chime Syndrome |
|
Microdontia, Abnormality of dental morphology, Hypodontia, Short philtrum, Supernumerary tooth, C... |
ORPHA:3474 |
Multiple Sulfatase Deficiency |
|
Corneal opacity, Ataxia |
OMIM:272200 |
Mucopolysaccharidosis Type 1 |
|
Widely spaced teeth, Thick lower lip vermilion, Microdontia, Everted lower lip vermilion, Sinusit... |
ORPHA:579 |
Tbck-Related Intellectual Disability Syndrome |
|
Mandibular prognathia, Long philtrum, Inability to walk, Macroglossia, Corneal opacity, Tented up... |
ORPHA:488632 |
Hurler Syndrome |
|
Microdontia, Macroglossia, Corneal opacity, Opacification of the corneal stroma, Gingival overgro... |
OMIM:607014 |
Wilson Disease |
|
Kayser-Fleischer ring, Difficulty walking |
ORPHA:905 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cleft upper lip, Megalocornea, Micrognathia, Buphthalmos, Cataract, Peters anomaly, Corneal opaci... |
OMIM:236670 |
Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Amelogenesis imperfecta, Abnormalit... |
ORPHA:1031 |
Mucopolysaccharidosis, Type Vii |
|
Gingival overgrowth, Corneal opacity, Widely spaced teeth, Macroglossia |
OMIM:253220 |
Kindler Epidermolysis Bullosa |
|
Conjunctivitis, Gingivitis, Periodontitis, Premature loss of primary teeth, Corneal opacity, Cari... |
ORPHA:2908 |
Mosaic Trisomy 8 |
|
Micrognathia, High palate, Corneal opacity, Cleft palate |
ORPHA:96061 |
Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Macroglossia, Ataxia, Gait disturbance, Cataract, Loss of ambulation, ... |
ORPHA:581 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Long philtrum, Micrognathia, Keratoconjunctivitis sicca, Tented philtrum, Buphthalmos, Corneal op... |
ORPHA:495875 |
Juvenile Glaucoma |
|
Abnormal anterior chamber morphology, Abnormality iris morphology |
ORPHA:98977 |
3Mc Syndrome 3 |
|
Cleft palate, Cleft upper lip, Corneal opacity |
OMIM:248340 |
Acrofrontofacionasal Dysostosis 1 |
|
Cleft upper lip, Mandibular prognathia, Wide mouth, Oligodontia, Iris atrophy, Cleft palate, Mala... |
OMIM:201180 |
Alpha-Mannosidosis, Infantile Form |
|
Mandibular prognathia, Abnormality of the sphenoid sinus, Widely spaced teeth, Macroglossia, Atax... |
ORPHA:309282 |
Dyggve-Melchior-Clausen Disease |
|
Difficulty walking, Corneal opacity, Inability to walk |
ORPHA:239 |
Ablepharon Macrostomia Syndrome |
|
Corneal erosion, Wide mouth, Microdontia, Hypoplasia of the maxilla, Corneal opacity, Hypoplasia ... |
ORPHA:920 |
Mosaic Trisomy 9 |
|
Micrognathia, High palate, Corneal opacity, Cleft palate |
ORPHA:99776 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Megalocornea, Long philtrum, Micrognathia, Abnormality of the temporomandibular joint, Posterior ... |
ORPHA:536471 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Lens subluxation, Corneal opacity, Ectopia pupillae |
ORPHA:85167 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Enamel hypoplasia, Oral mucosal blisters, Corneal opacity, Smooth tongue |
ORPHA:79396 |
Farber Disease |
|
Corneal opacity, Abnormal conjunctiva morphology, Opacification of the corneal stroma |
ORPHA:333 |
Mucopolysaccharidosis Type 7 |
|
Corneal opacity |
ORPHA:584 |
Osteogenesis Imperfecta |
|
Dentinogenesis imperfecta, Dental malocclusion, Delayed eruption of teeth, Micrognathia, Gait dis... |
ORPHA:666 |
Mucopolysaccharidosis, Type Vi |
|
Carious teeth, Macroglossia, Corneal opacity, Delayed eruption of teeth |
OMIM:253200 |
Hurler Syndrome |
|
Everted lower lip vermilion, Thick vermilion border, Corneal opacity, Macroglossia |
ORPHA:93473 |
Hutchinson-Gilford Progeria Syndrome |
|
Retrognathia, High palate, Shuffling gait, Delayed eruption of teeth, Short lingual frenulum, Hyp... |
ORPHA:740 |
Williams Syndrome |
|
Aplasia/Hypoplasia of the iris, Microdontia, Micrognathia, Everted lower lip vermilion, Blue irid... |
ORPHA:904 |
Congenital Disorder Of Deglycosylation 1 |
|
Dysmetria, Corneal opacity, Open mouth, Athetosis, Corneal ulceration |
OMIM:615273 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hypoplasia of the iris, Polycoria, Corneal neovascularization, Developmental cataract, Microcorne... |
OMIM:175780 |
Larsen Syndrome |
|
Cleft upper lip, Hypodontia, Corneal opacity, Cleft palate, Malar flattening |
OMIM:150250 |
Encephalocraniocutaneous Lipomatosis |
|
Iris coloboma, Craniofacial hyperostosis, Corneal opacity |
ORPHA:2396 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Astigmatism, Gait disturbance, Corneal opacity |
ORPHA:464311 |
Histiocytoid Cardiomyopathy |
|
Cleft palate, Megalocornea, Corneal opacity, Congenital aphakia |
ORPHA:137675 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Opacification of the corneal stroma, Lip telangiectasia, Telangiectasia of the oral mucosa, Thick... |
ORPHA:79280 |
Pierson Syndrome |
|
Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Uveal ectropi... |
OMIM:609049 |
Mosaic Variegated Aneuploidy Syndrome |
|
Micrognathia, Cataract, Corneal opacity, Cleft palate |
ORPHA:1052 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Astigmatism, Gait disturbance, Corneal opacity |
ORPHA:464306 |
Peters Plus Syndrome |
|
Cleft upper lip, Long philtrum, Wide mouth, Widely spaced teeth, Micrognathia, Anterior chamber s... |
ORPHA:709 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Temporomandibular joint ankylosis, Abnormality of dental morphology, Macroglossia, Corneal opacit... |
ORPHA:217085 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Temporomandibular joint ankylosis, Abnormality of dental morphology, Macroglossia, Corneal opacit... |
ORPHA:217093 |
Fabry Disease |
|
Thick lower lip vermilion, Cataract, Conjunctival telangiectasia, Corneal opacity, Corneal dystrophy |
ORPHA:324 |
Neurofibromatosis Type 1 |
|
Ataxia, Cataract, Heterochromia iridis, Corneal opacity, Chorioretinal coloboma, Lisch nodules |
ORPHA:636 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Cataract, Corneal opacity, Malar flattening, Cleft palate |
OMIM:274000 |
Limb Body Wall Complex |
|
Lens subluxation, Iris coloboma, Corneal opacity, Cleft lip, Cleft palate |
ORPHA:2369 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Conjunctivitis, Corneal erosion, Uveitis, Astigmatism, Corneal opacity, Keratitis, Cheilitis, Abn... |
ORPHA:2273 |
Wiedemann-Rautenstrauch Syndrome |
|
Retrognathia, Natal tooth, Truncal ataxia, Hypodontia, Short philtrum, Ataxia, Submucous cleft so... |
ORPHA:3455 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Retrognathia, High, narrow palate, Abnormality iris morphology |
ORPHA:91387 |
Mucopolysaccharidosis Type 2 |
|
Temporomandibular joint ankylosis, Macroglossia, Corneal opacity, Gingival overgrowth, Thick verm... |
ORPHA:580 |
Fraser Syndrome 1 |
|
Difficulty in tongue movements, Cleft upper lip, Dental malocclusion, Dental crowding, Corneal op... |
OMIM:219000 |
Tangier Disease |
|
Corneal opacity |
ORPHA:31150 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Limb ataxia, Corneal opacity, Broad-based gait |
ORPHA:2072 |
Gaucher Disease |
|
Gingival bleeding, Corneal opacity, Ataxia |
ORPHA:355 |
Roberts-Sc Phocomelia Syndrome |
|
Cleft upper lip, High palate, Micrognathia, Hyperplasia of the maxilla, Cataract, Corneal opacity... |
OMIM:268300 |
Autosomal Dominant Cutis Laxa |
|
Corneal opacity, Developmental cataract |
ORPHA:90348 |
Wilson Disease |
|
Kayser-Fleischer ring |
OMIM:277900 |