Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Progressive cerebellar ataxia, Corneal opacity, Corneal dystrophy, Ataxia |
ORPHA:3177 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... |
OMIM:604229 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Gait disturbance, Decreased corneal thickne... |
OMIM:614170 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea |
ORPHA:83461 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Rutherfurd Syndrome |
|
Delayed eruption of primary teeth, Failure of eruption of permanent teeth, Corneal dystrophy, Opa... |
OMIM:180900 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Mucous Membrane Pemphigoid |
|
Corneal opacity, Gingivitis, Oral mucosal blisters |
ORPHA:46486 |
Microphthalmia, Syndromic 16 |
|
Sclerocornea |
OMIM:611038 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Ataxia, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
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 |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Rodrigues Blindness |
|
Microcornea, Tooth malposition, Sclerocornea |
OMIM:268320 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Sclerocornea, Microcornea, Long philtrum, Ocular anterior segment dysgenesis, Iris coloboma |
OMIM:615145 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta |
OMIM:613211 |
Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Sclerocornea, Microcornea, High palate, Chorioretinal coloboma, Iris coloboma |
ORPHA:139471 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity, Median cleft palate |
ORPHA:2432 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Abnormality of the dentition, Microcornea, Keratoconju... |
ORPHA:1806 |
Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... |
OMIM:610202 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
8Q21.11 Microdeletion Syndrome |
|
Cataract, Corneal opacity, Exaggerated cupid's bow, Sclerocornea, Micrognathia, Abnormality of th... |
ORPHA:284160 |
3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Abnormality of the dentition, Deep philtrum, Cleft palate, High palate, A... |
ORPHA:251038 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions |
OMIM:217800 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Oculoauricular Syndrome |
|
Cataract, Short mandibular rami, Sclerocornea, Chorioretinal atrophy, Developmental cataract, Mic... |
OMIM:612109 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
Otodental Syndrome |
|
Delayed eruption of teeth, Cataract, Abnormal dental enamel morphology, Agenesis of premolar, Car... |
ORPHA:2791 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
Amelogenesis Imperfecta, Type Iiib |
|
Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617607 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
Gorlin-Chaudhry-Moss Syndrome |
|
Sclerocornea, Abnormality of the dentition, Hypoplasia of the maxilla, Oligodontia, Astigmatism |
ORPHA:2095 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
Winchester Syndrome |
|
Corneal opacity, Gingival overgrowth |
OMIM:277950 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Al-Gazali Syndrome |
|
Corneal opacity, Sclerocornea, Micrognathia |
OMIM:609465 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Mietens Syndrome |
|
Microcornea, Cataract, Corneal opacity, Sclerocornea |
ORPHA:2557 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity, Cleft palate |
ORPHA:90654 |
Stromme Syndrome |
|
Cataract, Sclerocornea, Micrognathia, Cleft palate, Microcornea, Wide mouth, Peters anomaly, Iris... |
OMIM:243605 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:608470 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Corneal opacity, Bilateral cleft lip and palate, Chorioretinal coloboma, Posterior embr... |
ORPHA:1473 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Long philtrum |
OMIM:615877 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Cataract, Exaggerated cupid's bow, Sclerocornea, Micrognathia, Cleft palate, Downturned corners o... |
OMIM:614230 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Anterior Segment Dysgenesis 4 |
|
Abnormality of the dentition, Hypoplastic iris stroma, Iris hypopigmentation |
OMIM:137600 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Gómez-López-Hernández Syndrome |
|
Thin vermilion border, Corneal opacity, Ataxia |
ORPHA:1532 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Iris coloboma, Sclerocornea |
ORPHA:77298 |
Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Ectopia lentis, Abnormality of the dentition, Microspherophakia, Deep anterior cham... |
OMIM:251750 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Delayed eruption of primary teeth, Sclerocornea |
OMIM:300952 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Bilateral Acute Depigmentation Of The Iris |
|
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... |
ORPHA:69736 |
Amoebic Keratitis |
|
Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri... |
ORPHA:67043 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Iris coloboma, Chorioretinal coloboma |
OMIM:616428 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Limbal dermoid, Sclerocornea |
OMIM:613001 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
Amelogenesis Imperfecta, Type Ik |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:620104 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Van Den Ende-Gupta Syndrome |
|
Dental crowding, Sclerocornea, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Clef... |
OMIM:600920 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Thin vermilion border, Corneal opacity, Narrow mouth |
ORPHA:2370 |
Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
Harel-Yoon Syndrome |
|
Mandibular prognathia, Corneal opacity, Ataxia, Micrognathia, Inability to walk, Developmental ca... |
OMIM:617183 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Mandibular prognathia, Thin upper lip vermilion, Cataract, Corneal opacity, Chorioretinal dysplas... |
OMIM:152950 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Short Syndrome |
|
Posterior embryotoxon, Corneal opacity, Abnormal dental enamel morphology, Abnormality of the den... |
ORPHA:3163 |
Wolf-Hirschhorn Syndrome |
|
Ataxia, Abnormality of the philtrum, Sclerocornea, Cleft upper lip, Micrognathia, Cleft palate, D... |
ORPHA:280 |
Smith-Lemli-Opitz Syndrome |
|
Cataract, Abnormal dental morphology, Abnormal dental enamel morphology, Sclerocornea, Micrognath... |
ORPHA:818 |
Failure Of Tooth Eruption, Primary |
|
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth |
OMIM:125350 |
Alpha-Mannosidosis |
|
Mandibular prognathia, Craniofacial hyperostosis, Cataract, Corneal opacity, Open bite, Dental ma... |
ORPHA:61 |
2Q24 Microdeletion Syndrome |
|
Cataract, Abnormality iris morphology, Cleft palate, Abnormal oral frenulum morphology, Short phi... |
ORPHA:1617 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Corneal opacity, Cleft palate |
ORPHA:577 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Sclerocornea, Cleft palate, Peters anomaly, Iris coloboma |
OMIM:309801 |
Meckel Syndrome |
|
Cataract, Abnormal chorioretinal morphology, Aplasia/Hypoplasia of the tongue, Sclerocornea, Micr... |
ORPHA:564 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... |
OMIM:613270 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Carious teeth, Dental enamel pits |
OMIM:619787 |
Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Accessory oral frenulum, Micrognathia, Antecubital pterygium, Bilateral cleft li... |
OMIM:619339 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Inability to walk, Corneal opacity, Micrognathia |
OMIM:166300 |
Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
Usher Syndrome Type 2 |
|
Abnormality of dental color, Cataract, Ataxia, Abnormal dental enamel morphology, Carious teeth, ... |
ORPHA:231178 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Macrodontia, High, narrow palate, Microcornea, Anterior synechiae of t... |
ORPHA:3214 |
Mucolipidosis Type Iv |
|
Corneal opacity, Ataxia, Gait disturbance, Everted lower lip vermilion, Microdontia |
ORPHA:578 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Ophthalmomandibulomelic Dysplasia |
|
Obtuse angle of mandible, Megalocornea, Corneal opacity, Temporomandibular joint ankylosis |
ORPHA:2741 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Corneal opacity, Micrognathia, Keratitis, Wide mouth, Oligodontia, Conjunctivitis, Long philtrum,... |
OMIM:602562 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia |
ORPHA:3196 |
Neurocardiofaciodigital Syndrome |
|
Cataract, Sclerocornea, Thin vermilion border, High palate, Retrognathia |
OMIM:619869 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy, Corneal guttata |
OMIM:615523 |
Aniridia 2 |
|
Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
Isolated Ectopia Lentis |
|
Mandibular prognathia, Cataract, Ectopia lentis, Ectopia pupillae, Malar flattening |
ORPHA:1885 |
Phace Syndrome |
|
Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma |
ORPHA:42775 |
Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
Tricho-Retino-Dento-Digital Syndrome |
|
Supernumerary tooth, Oligodontia, Juvenile cataract, Abnormality of the dentition |
ORPHA:1264 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Corneal opacity, Chorioretinal dysplasia, Sclerocornea, Micrognathia, Abnormal dental enamel morp... |
ORPHA:2556 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Carious teeth, Enamel hypoplasia, Hypodontia, Oral mucosal blisters |
OMIM:226650 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Brachyolmia Type 1, Toledo Type |
|
Gait disturbance, Opacification of the corneal stroma |
OMIM:271630 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Corneal opacity, Micrognathia, Developmental glaucoma, Downturned corners of mouth, Aniridia |
ORPHA:1064 |
Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract, Gingival overgrowth |
OMIM:221800 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal opacity, Sclerocornea,... |
ORPHA:649 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Mandibular prognathia, Cataract, Corneal opacity, Micrognathia, Gait ataxia, Spastic gait |
ORPHA:496790 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe... |
OMIM:221900 |
Scheie Syndrome |
|
Mandibular prognathia, Corneal opacity |
OMIM:607016 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Micrognathia, Abnormality of the dentition, Orofacial cle... |
ORPHA:96125 |
Yunis-Varon Syndrome |
|
Cataract, Sclerocornea, Micrognathia, Premature loss of primary teeth, High, narrow palate, Abnor... |
ORPHA:3472 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Thin upper lip vermilion, Rieger anomaly, Hypoplasia of the maxilla, Polycoria, Microcornea, Hypo... |
OMIM:180500 |
Sjogren-Larsson Syndrome |
|
Enamel hypoplasia, Astigmatism, Opacification of the corneal epithelium |
OMIM:270200 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
Oculomaxillofacial Dysostosis |
|
Median cleft lip, Corneal opacity, Abnormality of the dentition, Micrognathia, Cleft palate |
ORPHA:1794 |
Microphthalmia, Syndromic 3 |
|
Cataract, Sclerocornea |
OMIM:206900 |
Mucolipidosis Iv |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:252650 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Developmental cataract |
OMIM:618815 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Hypoplasia of the iris, Ectopia pupillae, Posterior synechiae of the anterior chamber, Hypodontia... |
OMIM:602482 |
Mucopolysaccharidosis Type 4 |
|
Corneal opacity, Abnormal dental enamel morphology, Abnormality of the dentition, Grayish enamel,... |
ORPHA:582 |
Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... |
OMIM:613195 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Hypoplasia of the maxilla, Microcornea, Short philtrum, Everted lower lip ... |
OMIM:601499 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization |
ORPHA:163934 |
Juvenile Sialidosis Type 2 |
|
Cataract, Ataxia, Corneal opacity, Protruding tongue, Gingival overgrowth, Dysmetria, Loss of amb... |
ORPHA:93399 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Tyrosinemia Type 2 |
|
Malar flattening, Corneal opacity, Ataxia |
ORPHA:28378 |
Sialidosis Type 2 |
|
Corneal opacity, Ataxia |
ORPHA:87876 |
Osteoporosis-Pseudoglioma Syndrome |
|
Loss of ambulation, Corneal opacity, Waddling gait |
ORPHA:2788 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... |
ORPHA:98957 |
Lowry-Maclean Syndrome |
|
Corneal opacity, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High... |
ORPHA:2409 |
Erythrokeratodermia Variabilis |
|
Cataract, Corneal opacity |
ORPHA:317 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Temporomandibular joint ankylosis, Opacification of the corneal stroma |
OMIM:164900 |
Wagro Syndrome |
|
Mandibular prognathia, Cataract, Dental crowding, Corneal opacity, Micrognathia, Aniridia, Malar ... |
OMIM:612469 |
Sialidosis Type 1 |
|
Cataract, Corneal opacity, Ataxia, Thick lower lip vermilion, Gait disturbance |
ORPHA:812 |
Amelocerebrohypohidrotic Syndrome |
|
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... |
ORPHA:1946 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Conical tooth, Persistence of primary teeth, Dental malocclusion, Oligodontia, Ectopia ... |
OMIM:618727 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Digeorge Syndrome |
|
Sclerocornea, Micrognathia, High, narrow palate, Cleft palate, High palate, Short philtrum, Recur... |
OMIM:188400 |
Microphthalmia, Syndromic 6 |
|
Sclerocornea, Micrognathia, Cleft palate, Microcornea, High palate, Microglossia, Retrognathia, B... |
OMIM:607932 |
Bartsocas-Papas Syndrome |
|
Median cleft lip, Corneal opacity, Micrognathia, Cleft palate, Popliteal pterygium, Narrow mouth |
ORPHA:1234 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Cataract, Corneal opacity, Ataxia, Ocular albinism, Athetosis, Narrow mouth, Microdontia, Choroid... |
ORPHA:2719 |
Jalili Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta |
ORPHA:1873 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Cataract, Keratitis, Carious teeth, Conjunctivitis, Enamel hypoplasia |
OMIM:612843 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Cataract, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Na... |
OMIM:257850 |
Megalocornea-Intellectual Disability Syndrome |
|
Iridodonesis, Ataxia, Micrognathia, Hypoplasia of the iris, Astigmatism, High palate, Short philt... |
ORPHA:2479 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Corneal opacity, Conical primary incisor |
OMIM:602400 |
Odontomicronychial Dysplasia |
|
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... |
ORPHA:1811 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Corneal opacity, Ataxia, Inability to walk, Athetosis, Abnormal cornea morphology, Long philtrum |
ORPHA:357058 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Corneal opacity, Exaggerated cupid's bow, Abnormality of canine, Pier... |
ORPHA:364577 |
Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity |
ORPHA:290 |
Alpha-Mannosidosis, Adult Form |
|
Macroglossia, Cataract, Corneal opacity, Ataxia |
ORPHA:309288 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Ataxia, Corneal opacity, Grayish enamel, Carious teeth, Wide mouth, Widely... |
OMIM:253010 |
Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
Sanjad-Sakati Syndrome |
|
Corneal opacity, Abnormal dental enamel morphology, Micrognathia, Abnormality of the dentition, T... |
ORPHA:2323 |
X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation |
ORPHA:54 |
Scheie Syndrome |
|
Wide mouth, Thick vermilion border, Everted lower lip vermilion, Corneal opacity |
ORPHA:93474 |
Fish-Eye Disease |
|
Corneal opacity |
ORPHA:79292 |
Dyschondrosteosis-Nephritis Syndrome |
|
Microdontia, Corneal opacity |
ORPHA:1765 |
Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
Congenital Sialidosis Type 2 |
|
Cataract, Ataxia, Corneal opacity, Protruding tongue, Gingival overgrowth, Dysmetria, Development... |
ORPHA:93400 |
Unilateral Ocular Duplication |
|
Median cleft lip, Abnormal pupil morphology, Cleft palate, Microcornea, Iris coloboma |
ORPHA:3374 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... |
ORPHA:263479 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Cataract, Ectopia lentis, Dental malocclusion, Spherophakia, Anterior synechiae of ... |
OMIM:601552 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Corneal opacity |
OMIM:613153 |
Zellweger Syndrome |
|
Cataract, Abnormal chorioretinal morphology, Corneal opacity, Micrognathia, Brushfield spots, Abn... |
ORPHA:912 |
Familial Dysautonomia |
|
Ataxia, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Gait disturbance, Heterochro... |
ORPHA:1764 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
Hurler-Scheie Syndrome |
|
Corneal opacity |
ORPHA:93476 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo... |
ORPHA:50814 |
Woolly Hair |
|
Abnormal pupil morphology, Cataract |
ORPHA:170 |
Walker-Warburg Syndrome |
|
Cataract, Corneal opacity, Chorioretinal dysplasia, Submucous cleft hard palate, Cleft palate, Mi... |
ORPHA:899 |
Neuhauser Syndrome |
|
Iridodonesis, Ataxia, Micrognathia, Hypoplasia of the iris, High palate, Long philtrum, Megalocor... |
OMIM:249310 |
Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... |
OMIM:104570 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity |
OMIM:618961 |
Yunis-Varon Syndrome |
|
Thin upper lip vermilion, Cataract, Sclerocornea, Micrognathia, Premature loss of primary teeth, ... |
OMIM:216340 |
Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity |
ORPHA:281090 |
Trisomy 9P |
|
Dental crowding, Abnormal pupil morphology, Non-midline cleft lip, Impacted tooth, Downturned cor... |
ORPHA:236 |
Phacoanaphylactic Uveitis |
|
Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo... |
ORPHA:209959 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Coloboma, Ocular, Autosomal Dominant |
|
Corneal opacity, Chorioretinal coloboma, Peters anomaly |
OMIM:120200 |
Gm1 Gangliosidosis |
|
Mandibular prognathia, Ataxia, Corneal opacity, Unsteady gait, Gingival overgrowth, Macroglossia,... |
ORPHA:354 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Cataract, Ataxia, Abnormal dental enamel morphology, Median cleft lip, Mic... |
ORPHA:2710 |
Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity |
ORPHA:1867 |
Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Cataract, Abnormal chorioretinal morphology, Corneal opacity, Abnormal... |
ORPHA:464 |
Oculocerebrocutaneous Syndrome |
|
Wide mouth, Corneal opacity, Iris coloboma, Orofacial cleft |
ORPHA:1647 |
Lacrimoauriculodentodigital Syndrome 2 |
|
Conical tooth, Carious teeth, Conjunctivitis, Hypodontia, Microdontia |
OMIM:620192 |
Cystinosis |
|
Corneal opacity, Gait disturbance |
ORPHA:213 |
Olmsted Syndrome 1 |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:614594 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Corneal opacity, Exaggerated cupid'... |
OMIM:608670 |
Moebius Syndrome |
|
Corneal opacity, Aplasia/Hypoplasia of the tongue, Micrognathia, Cleft palate, Tooth agenesis, Hi... |
ORPHA:570 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Delayed eruption of teeth, Peripheral opacification of the cornea, Corneal opacity, Micrognathia,... |
OMIM:259600 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Conjunctival hyperemia, Cataract, Corneal opacity |
ORPHA:2399 |
Hurler-Scheie Syndrome |
|
Thick vermilion border, Corneal opacity, Micrognathia |
OMIM:607015 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Iris flocculi |
OMIM:611788 |
1Q41Q42 Microdeletion Syndrome |
|
Submucous cleft hard palate, Thick vermilion border, Abnormality iris morphology, Cleft palate |
ORPHA:250999 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Enamel hypoplasia, Corneal pterygium, Symblepharon, Amelogenesis imperfecta |
OMIM:245660 |
Lcat Deficiency |
|
Corneal opacity |
ORPHA:650 |
Charcot-Marie-Tooth Disease Type 1E |
|
Inability to walk, Abnormal pupil morphology, Anisocoria, Steppage gait, Gait disturbance, Gait i... |
ORPHA:90658 |
Focal Dermal Hypoplasia |
|
Corneal opacity, Abnormal dental morphology, Abnormal dental enamel morphology, Ectopia lentis, O... |
ORPHA:2092 |
Coats Disease |
|
Leukocoria |
OMIM:300216 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Abnormality of dental color, Corneal opacity |
OMIM:163200 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hypodontia, Astigmatism, Corneal opacity, Retrognathia |
OMIM:301056 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Dental crowding, Chorioretinal dysplasia, Micrognathia, Abnormal pupil mor... |
ORPHA:534 |
Multiple Sulfatase Deficiency |
|
Cataract, Corneal opacity, Smooth philtrum |
ORPHA:585 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Macroglossia, Megalocornea, Cataract, Abnormality iris morphology |
ORPHA:370959 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Cataract, Corneal opacity, Small, conical teeth, Athetosis, Progressiv... |
ORPHA:2962 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor... |
OMIM:256800 |
Proteus-Like Syndrome |
|
Mandibular prognathia, Cataract, Open bite, Abnormal pupil morphology, Limbal dermoid, Heterochro... |
ORPHA:2969 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Corneal opacity, Micrognathia, Hypoplasia of the maxilla, Narrow philt... |
OMIM:601812 |
Fryns Syndrome |
|
Tented upper lip vermilion, Corneal opacity, Median cleft lip, Micrognathia, Non-midline cleft li... |
ORPHA:2059 |
Pelvis-Shoulder Dysplasia |
|
Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Fucosidosis |
|
Corneal opacity, Abnormality of the dentition |
ORPHA:349 |
Proboscis Lateralis |
|
Aplasia/Hypoplasia of the maxilla, Cataract, Corneal opacity, Abnormal paranasal sinus morphology... |
ORPHA:141099 |
Late-Onset Retinal Degeneration |
|
Iris atrophy, Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretin... |
ORPHA:67042 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology |
ORPHA:2151 |
Hec Syndrome |
|
Abnormal pupil morphology, Developmental cataract |
ORPHA:2119 |
Schimke Immuno-Osseous Dysplasia |
|
Microdontia, Corneal opacity, Hypodontia, Abnormal primary molar morphology |
ORPHA:1830 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
Multiple Sulfatase Deficiency |
|
Corneal opacity, Ataxia |
OMIM:272200 |
Chime Syndrome |
|
Abnormal dental morphology, Corneal opacity, Abnormality of the dentition, Supernumerary tooth, C... |
ORPHA:3474 |
Mucopolysaccharidosis Type 1 |
|
Sinusitis, Corneal opacity, Thick lower lip vermilion, Gingival overgrowth, Widely spaced teeth, ... |
ORPHA:579 |
Hurler Syndrome |
|
Corneal opacity, Gingival overgrowth, Macroglossia, Thick vermilion border, Opacification of the ... |
OMIM:607014 |
Tbck-Related Intellectual Disability Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Corneal opacity, Inability to walk, High, narr... |
ORPHA:488632 |
Cutis Laxa, Autosomal Dominant 3 |
|
Corneal opacity, Developmental cataract |
OMIM:616603 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Corneal opacity, Micrognathia, Cleft upper lip, Cleft palate, Buphthalmos, Peters anoma... |
OMIM:236670 |
Wilson Disease |
|
Kayser-Fleischer ring, Difficulty walking |
ORPHA:905 |
Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... |
ORPHA:1031 |
Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Iris atrophy, Cleft upper lip, Cleft palate, Wide mouth, Oligodontia, Mala... |
OMIM:201180 |
Kindler Epidermolysis Bullosa |
|
Corneal opacity, Abnormal dental enamel morphology, Premature loss of primary teeth, Carious teet... |
ORPHA:2908 |
Mosaic Trisomy 8 |
|
High palate, Corneal opacity, Cleft palate, Micrognathia |
ORPHA:96061 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Broad-based gait, Corneal opacity, Corneal dystrophy, Micrognathia, Tented philtrum, Buphthalmos,... |
ORPHA:495875 |
Juvenile Glaucoma |
|
Abnormal anterior chamber morphology, Abnormality iris morphology |
ORPHA:98977 |
Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Cataract, Corneal opacity, Ataxia, Abnormality of the dentition, Macro... |
ORPHA:581 |
3Mc Syndrome 3 |
|
Corneal opacity, Cleft palate, Cleft upper lip |
OMIM:248340 |
Alpha-Mannosidosis, Infantile Form |
|
Mandibular prognathia, Cataract, Corneal opacity, Ataxia, Macroglossia, Abnormality of the spheno... |
ORPHA:309282 |
Dyggve-Melchior-Clausen Disease |
|
Inability to walk, Corneal opacity, Difficulty walking |
ORPHA:239 |
Ablepharon Macrostomia Syndrome |
|
Corneal opacity, Hypoplasia of the maxilla, Corneal erosion, Wide mouth, Thin vermilion border, H... |
ORPHA:920 |
Hereditary Acrokeratotic Poikiloderma |
|
Premature loss of primary teeth, Abnormality of the dentition, Open bite, Trismus, Gingivitis, Ke... |
ORPHA:2907 |
Mucopolysaccharidosis, Type Vii |
|
Macroglossia, Corneal opacity, Widely spaced teeth, Gingival overgrowth |
OMIM:253220 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ectopia pupillae, Corneal opacity, Lens subluxation |
ORPHA:85167 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Abnormality of the temporomandibular joint, Corneal opacity, Abnormality of the dentition, Microg... |
ORPHA:536471 |
Mosaic Trisomy 9 |
|
High palate, Corneal opacity, Cleft palate, Micrognathia |
ORPHA:99776 |
Farber Disease |
|
Abnormal conjunctiva morphology, Corneal opacity, Opacification of the corneal stroma |
ORPHA:333 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Enamel hypoplasia, Corneal opacity, Smooth tongue, Oral mucosal blisters |
ORPHA:79396 |
Mucopolysaccharidosis Type 7 |
|
Corneal opacity |
ORPHA:584 |
Osteogenesis Imperfecta |
|
Delayed eruption of teeth, Abnormality of dental color, Ataxia, Corneal opacity, Abnormal dental ... |
ORPHA:666 |
Apolipoprotein A-I Deficiency |
|
Opacification of the corneal stroma |
ORPHA:425 |
Mucopolysaccharidosis, Type Vi |
|
Delayed eruption of teeth, Macroglossia, Corneal opacity, Carious teeth |
OMIM:253200 |
Hurler Syndrome |
|
Macroglossia, Thick vermilion border, Everted lower lip vermilion, Corneal opacity |
ORPHA:93473 |
Hutchinson-Gilford Progeria Syndrome |
|
Delayed eruption of teeth, Dental crowding, Corneal opacity, Short lingual frenulum, Persistence ... |
ORPHA:740 |
Congenital Disorder Of Deglycosylation 1 |
|
Corneal opacity, Dysmetria, Athetosis, Open mouth, Corneal ulceration |
OMIM:615273 |
Williams Syndrome |
|
Micrognathia, Dysmetria, Microdontia, Megalocornea, Ataxia, Abnormal dental enamel morphology, Ab... |
ORPHA:904 |
Larsen Syndrome |
|
Corneal opacity, Cleft upper lip, Cleft palate, Hypodontia, Malar flattening |
OMIM:150250 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Astigmatism, Corneal opacity, Gait disturbance |
ORPHA:464311 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of the iris, Ectopia ... |
OMIM:175780 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Corneal opacity, Iris coloboma |
ORPHA:2396 |
Histiocytoid Cardiomyopathy |
|
Cleft palate, Megalocornea, Corneal opacity, Congenital aphakia |
ORPHA:137675 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Thick vermilion border, Lip telangiectasia, Opacification of t... |
ORPHA:79280 |
Mosaic Variegated Aneuploidy Syndrome |
|
Cataract, Corneal opacity, Cleft palate, Micrognathia |
ORPHA:1052 |
Pierson Syndrome |
|
Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Hypoplasia of the iris... |
OMIM:609049 |
Peters Plus Syndrome |
|
Thin upper lip vermilion, Cataract, Corneal opacity, Exaggerated cupid's bow, Micrognathia, Cleft... |
ORPHA:709 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Astigmatism, Corneal opacity, Gait disturbance |
ORPHA:464306 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal dental morphology, Corneal opacity, Temporomandibular joint ankylosis, Gingival overgrow... |
ORPHA:217085 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal dental morphology, Corneal opacity, Temporomandibular joint ankylosis, Gingival overgrow... |
ORPHA:217093 |
Fabry Disease |
|
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Thick lower lip vermilion |
ORPHA:324 |
Neurofibromatosis Type 1 |
|
Cataract, Corneal opacity, Ataxia, Chorioretinal coloboma, Lisch nodules, Heterochromia iridis |
ORPHA:636 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cataract, Corneal opacity, Micrognathia, Cleft palate, Malar flattening |
OMIM:274000 |
Limb Body Wall Complex |
|
Corneal opacity, Cleft lip, Cleft palate, Lens subluxation, Iris coloboma |
ORPHA:2369 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Corneal opacity, Abnormal dental enamel morphology, Keratitis, Corneal erosion, Cheilitis, Uveiti... |
ORPHA:2273 |
Wiedemann-Rautenstrauch Syndrome |
|
Natal tooth, Thin upper lip vermilion, Cataract, Corneal opacity, Ataxia, Abnormality of the dent... |
ORPHA:3455 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
High, narrow palate, Retrognathia, Abnormality iris morphology |
ORPHA:91387 |
Fraser Syndrome 1 |
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Corneal opacity, Dental crowding, Cleft upper lip, Dental malocclusion, Cleft palate, Difficulty ... |
OMIM:219000 |
Mucopolysaccharidosis Type 2 |
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Corneal opacity, Temporomandibular joint ankylosis, Gingival overgrowth, Macroglossia, Thick verm... |
ORPHA:580 |
Tangier Disease |
|
Corneal opacity |
ORPHA:31150 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Broad-based gait, Corneal opacity, Limb ataxia |
ORPHA:2072 |
Gaucher Disease |
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Corneal opacity, Gingival bleeding, Ataxia |
ORPHA:355 |
Roberts-Sc Phocomelia Syndrome |
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Cataract, Corneal opacity, Micrognathia, Cleft upper lip, Cleft palate, High palate, Opacificatio... |
OMIM:268300 |
Autosomal Dominant Cutis Laxa |
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Corneal opacity, Developmental cataract |
ORPHA:90348 |
Wilson Disease |
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Kayser-Fleischer ring |
OMIM:277900 |