| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
| Corneal Dystrophy, Band-Shaped |
|
Band-shaped corneal dystrophy |
OMIM:217500 |
| Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy |
|
Punctate corneal dystrophy |
OMIM:183850 |
| Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
| Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
| Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
| Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
| Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
| Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Corneal Dystrophy And Perceptive Deafness |
|
Sensorineural hearing impairment, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Cornea Plana 1, Autosomal Dominant |
|
Flat cornea |
OMIM:121400 |
| Galactosialidosis |
|
Corneal opacity, Hearing impairment |
ORPHA:351 |
| Corneal Dystrophy, Epithelial Basement Membrane |
|
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions |
OMIM:121820 |
| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
| Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
| Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions |
OMIM:217800 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
| Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet |
|
Posterior corneal stroma punctiform multicolored opacities |
OMIM:619871 |
| Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
| Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
| Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
| Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
| Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... |
OMIM:610202 |
| Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
| Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
| Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
| Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
| Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
| Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
| Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
| Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:608470 |
| X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity |
ORPHA:2432 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
| Stickler Syndrome Type 2 |
|
Sensorineural hearing impairment, Cataract, Corneal opacity |
ORPHA:90654 |
| Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
| Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
| Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, Posterior embryotoxon... |
ORPHA:1473 |
| Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
| Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
| Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
| Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy, Corneal guttata |
OMIM:615523 |
| Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
| Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
| Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal degeneration, Corneal dystrophy, Corneal guttata |
OMIM:610158 |
| Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... |
OMIM:613270 |
| Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
| Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
| Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
| Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
| Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
| Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
| Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
| Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
| Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... |
OMIM:604229 |
| Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
| Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea |
ORPHA:83461 |
| Corneal Dystrophy, Fuchs Endothelial, 4 |
|
Corneal dystrophy, Corneal guttata |
OMIM:613268 |
| Gómez-López-Hernández Syndrome |
|
Corneal opacity, Low-set ears |
ORPHA:1532 |
| Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
| Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
EEG abnormality, Corneal opacity, Developmental cataract |
OMIM:618815 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Corneal arcus, Hearing impairment |
OMIM:144300 |
| Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... |
ORPHA:98973 |
| Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Corneal opacity |
ORPHA:2370 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Norrie Disease |
|
Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, Leukocoria, Hypoplasi... |
OMIM:310600 |
| Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
| Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
| Mucolipidosis Iv |
|
Optic atrophy, Corneal opacity, Opacification of the corneal stroma |
OMIM:252650 |
| Hurler-Scheie Syndrome |
|
Abnormal nerve conduction velocity, Sensorineural hearing impairment, Corneal opacity |
ORPHA:93476 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality |
OMIM:617519 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
| Erythrokeratodermia Variabilis |
|
Cataract, Corneal opacity, Hearing impairment, Protruding ear |
ORPHA:317 |
| Herpes Simplex Virus Stromal Keratitis |
|
Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... |
ORPHA:137599 |
| Microphthalmia, Syndromic 16 |
|
Sclerocornea |
OMIM:611038 |
| Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization |
ORPHA:163934 |
| Abcd Syndrome |
|
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... |
OMIM:600501 |
| Mucolipidosis Type Iii |
|
Corneal opacity |
ORPHA:577 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Rieger anomaly, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormally... |
OMIM:109120 |
| Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Antecubital pterygium, Popliteal pterygium, Low-set ears, Overfolded helix, Axil... |
OMIM:619339 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Astigmatism, Abnormal auditory evoked potentials |
OMIM:617523 |
| Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... |
ORPHA:98957 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Cataract, Corneal opacity, Myopic astigmatism, Optic atrophy, Protruding ear, Microcornea, Astigm... |
OMIM:152950 |
| Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
| Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
| Neurotrophic Keratopathy |
|
Abnormal fifth cranial nerve morphology, Corneal scarring, Corneal stromal edema, Astigmatism, Re... |
ORPHA:137596 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
| Sialidosis Type 2 |
|
Corneal opacity, Hearing impairment |
ORPHA:87876 |
| Harel-Yoon Syndrome |
|
Optic atrophy, Corneal opacity, Developmental cataract |
OMIM:617183 |
| Alpha-Mannosidosis |
|
Cataract, Corneal opacity, Abnormal helix morphology, Macrotia, Hearing impairment |
ORPHA:61 |
| Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Sensorineural hearing impairment, Cataract, Corneal opacity |
ORPHA:290 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Sclerocornea, Microcornea, Low-set ears, Ocular anterior segment dysgenesis, Macrotia, Iris coloboma |
OMIM:615145 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Protruding ear, Microcornea, Keratoconjunctivitis sicc... |
ORPHA:1806 |
| Sialidosis Type 1 |
|
Cataract, Corneal opacity, Decreased nerve conduction velocity, Sensorineural hearing impairment,... |
ORPHA:812 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... |
OMIM:221900 |
| Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract |
OMIM:221800 |
| Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Corneal opacity |
ORPHA:2741 |
| Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Posteriorly rotated ears, Corneal opacity, Keratitis, Microtia, Conjunctivitis |
OMIM:602562 |
| Scheie Syndrome |
|
Abnormal nerve conduction velocity, Sensorineural hearing impairment, Corneal opacity |
ORPHA:93474 |
| Short Syndrome |
|
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Sensorineural hearing impairme... |
ORPHA:3163 |
| Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
| Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
| Rodrigues Blindness |
|
Microcornea, Sclerocornea, Protruding ear |
OMIM:268320 |
| Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Optic disc coloboma, Corneal opacity, Peters anomaly |
OMIM:120200 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Cataract, Abnormal auditory evoked potentials |
OMIM:619260 |
| Fish-Eye Disease |
|
Corneal opacity |
ORPHA:79292 |
| Scheie Syndrome |
|
Corneal opacity |
OMIM:607016 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Optic atrophy, Cataract, Corneal opacity, Optic nerve hypoplasia |
ORPHA:496790 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ... |
ORPHA:52368 |
| Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
| Multiple Sulfatase Deficiency |
|
Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, Abnormality of periph... |
ORPHA:585 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Postural hypotension with compensatory tachycardia, Keratitis, Corneal scarring, Abnormal autonom... |
OMIM:256800 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Corneal opacity |
OMIM:613153 |
| Mucolipidosis Type Iv |
|
EEG abnormality, Corneal opacity |
ORPHA:578 |
| Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Sclerocornea, Sensorineural hearing impairment, Microcornea, Iris coloboma |
ORPHA:139471 |
| Sjogren-Larsson Syndrome |
|
Astigmatism, Opacification of the corneal epithelium |
OMIM:270200 |
| Mietens Syndrome |
|
Microcornea, Cataract, Corneal opacity, Sclerocornea |
ORPHA:2557 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Corneal opacity |
OMIM:166300 |
| Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
| Alpha-Mannosidosis, Adult Form |
|
Optic disc pallor, Mixed hearing impairment, Cataract, Corneal opacity |
ORPHA:309288 |
| Zellweger Syndrome |
|
Cataract, Corneal opacity, Brushfield spots, External ear malformation, Sensorineural hearing imp... |
ORPHA:912 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Developmental glaucoma, Corneal opacity |
ORPHA:1064 |
| Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma |
OMIM:271630 |
| Chronic Bilirubin Encephalopathy |
|
Conjunctival icterus, Abnormal conjunctiva morphology, Abnormal auditory evoked potentials, Senso... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Conjunctival icterus, Abnormal conjunctiva morphology, Abnormal auditory evoked potentials, Senso... |
ORPHA:529799 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity |
OMIM:618961 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity |
ORPHA:281090 |
| Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... |
ORPHA:96125 |
| Juvenile Sialidosis Type 2 |
|
Cataract, Corneal opacity, Optic atrophy, Low-set ears, Hearing impairment |
ORPHA:93399 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Corneal opacity |
ORPHA:2788 |
| Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity |
ORPHA:1867 |
| Congenital Sialidosis Type 2 |
|
Cataract, Corneal opacity, Optic atrophy, Developmental cataract, Low-set ears, Hearing impairment |
ORPHA:93400 |
| Walker-Warburg Syndrome |
|
Cataract, Corneal opacity, Posteriorly rotated ears, Optic atrophy, Protruding ear, Microcornea, ... |
ORPHA:899 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Abnormal cornea morphology, Corneal opacity, Hearing impairment |
ORPHA:357058 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Atresia of the external auditory canal, Opacification of the corneal stroma |
OMIM:601356 |
| Olmsted Syndrome 1 |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:614594 |
| 8Q21.11 Microdeletion Syndrome |
|
Cataract, Corneal opacity, Sclerocornea, Hearing impairment, Low-set ears, Iris hypopigmentation |
ORPHA:284160 |
| Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,... |
OMIM:106210 |
| Galactosialidosis |
|
Conjunctival telangiectasia, Opacification of the corneal stroma, Hearing impairment |
OMIM:256540 |
| Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Absent earlobe, Developmental cataract, Microcornea, Iris cyst, Posterior... |
OMIM:612109 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Corneal opacity, Optic nerve hypoplasia, Posteriorly rotated ears, Large earlobe, Astigmatism, Lo... |
OMIM:301056 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Cataract, Corneal opacity, Abnormality of cartilage of external ear, Cupped ear, Low-set ears, Co... |
ORPHA:2399 |
| Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
| Cystinosis, Adult Nonnephropathic |
|
Corneal crystals |
OMIM:219750 |
| Oculocerebrocutaneous Syndrome |
|
External ear malformation, Corneal opacity, Iris coloboma, Hearing impairment |
ORPHA:1647 |
| Lcat Deficiency |
|
Corneal opacity |
ORPHA:650 |
| Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma |
OMIM:230650 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Protruding ear, Corneal opacity, Low-set ears, Developmental cataract |
OMIM:616603 |
| Oculomaxillofacial Dysostosis |
|
Corneal opacity |
ORPHA:1794 |
| Lowry-Maclean Syndrome |
|
Developmental glaucoma, Megalocornea, Corneal opacity, Low-set ears |
ORPHA:2409 |
| 3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Low-set ears, Aniridia, Iris coloboma, Hearing impairment |
ORPHA:251038 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Corneal opacity |
OMIM:602400 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Cataract, Corneal opacity, Sensorineural hearing impairment, Ocular albinism, EEG abnormality, Ir... |
ORPHA:2719 |
| Familial Dysautonomia |
|
Orthostatic hypotension, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Optic atrop... |
ORPHA:1764 |
| Pelvis-Shoulder Dysplasia |
|
Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
| Wagro Syndrome |
|
Aniridia, Cataract, Corneal opacity, Low-set ears |
OMIM:612469 |
| Bartsocas-Papas Syndrome |
|
Popliteal pterygium, Corneal opacity |
ORPHA:1234 |
| Al-Gazali Syndrome |
|
Corneal opacity, Sclerocornea |
OMIM:609465 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae, Hearing impairment |
OMIM:601499 |
| Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
| Sanjad-Sakati Syndrome |
|
Low-set, posteriorly rotated ears, External ear malformation, Astigmatism, Corneal opacity |
ORPHA:2323 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Iris coloboma, Sclerocornea, Hearing impairment |
ORPHA:77298 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Posteriorly rotated ears, Sensorineural hearing impairment, Axenfeld anomaly, Opacification of th... |
OMIM:612582 |
| Fucosidosis |
|
Corneal opacity, Hearing impairment |
ORPHA:349 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Cataract, Optic atrophy, Conjunctivitis, Macrotia, Abnormali... |
ORPHA:90321 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy, Buphthalmos, Microtia, Atresia ... |
OMIM:236670 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Conductive hearing impairment, Astigmatism, Sclerocornea |
ORPHA:2095 |
| Stromme Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Low-set ears, Peters anomaly, Iris c... |
OMIM:243605 |
| Mucopolysaccharidosis, Type Ivb |
|
Corneal opacity, Opacification of the corneal stroma, Hearing impairment |
OMIM:253010 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
| Multiple Sulfatase Deficiency |
|
Corneal opacity, Hearing impairment |
OMIM:272200 |
| Gm1 Gangliosidosis |
|
Optic atrophy, Macrotia, Corneal opacity, Low-set ears |
ORPHA:354 |
| Cystinosis |
|
Corneal opacity |
ORPHA:213 |
| 3Mc Syndrome 3 |
|
Abnormal pinna morphology, Corneal opacity, Auricular pit, Hearing impairment |
OMIM:248340 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
| Mosaic Trisomy 8 |
|
Corneal opacity, Abnormal pinna morphology, Protruding ear, Abnormal antihelix morphology, Macrot... |
ORPHA:96061 |
| Infantile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... |
ORPHA:206436 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i... |
ORPHA:101085 |
| Tyrosinemia Type 2 |
|
Corneal opacity |
ORPHA:28378 |
| Cockayne Syndrome B |
|
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:133540 |
| Mucolipidosis Iii Gamma |
|
Opacification of the corneal stroma |
OMIM:252605 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
| Hurler Syndrome |
|
Corneal opacity, Opacification of the corneal stroma, Hearing impairment |
OMIM:607014 |
| Mucopolysaccharidosis Type 4 |
|
Corneal opacity, Hearing impairment |
ORPHA:582 |
| Hurler-Scheie Syndrome |
|
Corneal opacity |
OMIM:607015 |
| Tangier Disease |
|
Facial diplegia, Opacification of the corneal stroma |
OMIM:205400 |
| Farber Disease |
|
Abnormal conjunctiva morphology, Corneal opacity, Opacification of the corneal stroma |
ORPHA:333 |
| Gomez-Lopez-Hernandez Syndrome |
|
Low-set ears, Posteriorly rotated ears, Opacification of the corneal stroma |
OMIM:601853 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microcornea, Ectopia pupillae, Cataract, Sclerocornea |
OMIM:615877 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Opacification of the corneal stroma |
OMIM:215250 |
| Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... |
ORPHA:909 |
| Schimke Immuno-Osseous Dysplasia |
|
Corneal opacity |
ORPHA:1830 |
| Focal Dermal Hypoplasia |
|
Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Low-set ears, Iris coloboma, Hearing imp... |
ORPHA:2092 |
| Mucopolysaccharidosis, Type Vii |
|
Sensorineural hearing impairment, Corneal opacity, Hearing impairment |
OMIM:253220 |
| Mucopolysaccharidosis Type 1 |
|
Sensorineural hearing impairment, Optic atrophy, Corneal opacity, Hearing impairment |
ORPHA:579 |
| Bietti Crystalline Corneoretinal Dystrophy |
|
Marginal corneal dystrophy, Corneal crystals |
OMIM:210370 |
| De Barsy Syndrome |
|
Cataract, Corneal opacity, Large earlobe, Bilateral sensorineural hearing impairment, Low-set ears |
ORPHA:2962 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Corneal opacity |
OMIM:163200 |
| Mucopolysaccharidosis Type 3 |
|
Mixed hearing impairment, Cataract, Corneal opacity, Thickened helices, Abnormality of the middle... |
ORPHA:581 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Cataract, Opacification of the corneal stroma |
ORPHA:3453 |
| Cockayne Syndrome A |
|
Cataract, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduct... |
OMIM:216400 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Cataract, Sclerocornea, Sensorineural hearing impairment, Protruding ear, Low-set ears |
OMIM:614230 |
| Hurler Syndrome |
|
Abnormal nerve conduction velocity, Corneal opacity, Hearing impairment |
ORPHA:93473 |
| Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal... |
ORPHA:649 |
| Mucopolysaccharidosis Type 7 |
|
Corneal opacity |
ORPHA:584 |
| Trisomy 10P |
|
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... |
ORPHA:171929 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cataract, Brushfield spots, Optic nerve dysplasia, Abnormal helix morphology, Opacification of th... |
OMIM:214110 |
| Premature Aging Syndrome, Penttinen Type |
|
Corneal stromal edema, Sensorineural hearing impairment, Corneal opacity |
OMIM:601812 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ectopia pupillae, Corneal opacity, Lens subluxation |
ORPHA:85167 |
| Tbck-Related Intellectual Disability Syndrome |
|
Sensorineural hearing impairment, Corneal opacity, EEG with generalized epileptiform discharges |
ORPHA:488632 |
| Fryns Syndrome |
|
Low-set, posteriorly rotated ears, Aganglionic megacolon, Corneal opacity |
ORPHA:2059 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Small earlobe, Corneal opacity, Hearing impairment |
ORPHA:364577 |
| Apolipoprotein A-I Deficiency |
|
Opacification of the corneal stroma |
ORPHA:425 |
| Alpha-Mannosidosis, Infantile Form |
|
Optic disc pallor, Mixed hearing impairment, Cataract, Corneal opacity, Sensorineural hearing imp... |
ORPHA:309282 |
| Moebius Syndrome |
|
Corneal opacity, Facial palsy, Hearing impairment |
ORPHA:570 |
| Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Keratoconjunctivitis, Opacification of the corneal stroma, Corneal neovascularization, ... |
OMIM:158310 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Low-set, posteriorly rotated ears, Corneal opacity, Optic nerve hypoplasia, Posterior subcapsular... |
ORPHA:536471 |
| Carpenter Syndrome 1 |
|
Abnormal pinna morphology, Sensorineural hearing impairment, Optic atrophy, Microcornea, Low-set ... |
OMIM:201000 |
| Dyggve-Melchior-Clausen Disease |
|
Corneal opacity, Hearing impairment |
ORPHA:239 |
| Mosaic Trisomy 9 |
|
Corneal opacity, Low-set ears |
ORPHA:99776 |
| Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy |
ORPHA:79330 |
| Pseudo-Torch Syndrome 1 |
|
Low-set ears, Cataract, Opacification of the corneal stroma |
OMIM:251290 |
| Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Limbal dermoid, Sclerocornea |
OMIM:613001 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of the iris, Ectopia ... |
OMIM:175780 |
| Fabry Disease |
|
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Sensorineural hearing ... |
ORPHA:324 |
| Wilson Disease |
|
Kayser-Fleischer ring |
ORPHA:905 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Peripheral opacification of the cornea, Corneal opacity |
OMIM:259600 |
| Mend Syndrome |
|
Abnormal auditory evoked potentials, Cataract, Low-set ears |
ORPHA:401973 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Corneal crystals |
OMIM:219900 |
| Incontinentia Pigmenti |
|
Keratitis, Cataract, Corneal opacity |
ORPHA:464 |
| Congenital Disorder Of Deglycosylation 1 |
|
Decreased sensory nerve conduction velocity, Corneal ulceration, Corneal opacity, Low-set ears |
OMIM:615273 |
| Histiocytoid Cardiomyopathy |
|
Megalocornea, Optic atrophy, Corneal opacity, Congenital aphakia |
ORPHA:137675 |
| Mucopolysaccharidosis Type 6 |
|
Opacification of the corneal stroma, Hearing impairment |
ORPHA:583 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Astigmatism, Corneal opacity, Protruding ear |
ORPHA:464311 |
| Ablepharon Macrostomia Syndrome |
|
Corneal opacity, Corneal erosion, Microtia, Atresia of the external auditory canal, Hearing impai... |
ORPHA:920 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Optic disc pallor, Corneal opacity, Protruding ear, Astigmatism, Macrotia |
ORPHA:464306 |
| Mucolipidosis Iii Alpha/Beta |
|
Opacification of the corneal stroma, Hyperopic astigmatism |
OMIM:252600 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Sclerocornea, Peters anomaly, Iris coloboma, Hearing impairment |
OMIM:309801 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Low-set, posteriorly rotated ears, Cataract, Corneal opacity, Hearing impairment |
ORPHA:1052 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Cataract, Posteriorly rotated ears, Brushfield spots, Sensorineural hearing im... |
OMIM:214100 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Cataract, Optic nerve hypoplasia, Sclerocornea, Sensorineural hearing impair... |
OMIM:206900 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Corneal opacity, Corneal dystrophy, Optic nerve hypoplasia, Buphthalmos, Keratoconjunctivitis sic... |
ORPHA:495875 |
| Tangier Disease |
|
Facial diplegia, Corneal opacity |
ORPHA:31150 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Low-set, posteriorly rotated ears, Cataract, Corneal opacity, Abnormal pupil morphology, Protrudi... |
ORPHA:534 |
| Larsen Syndrome |
|
Conductive hearing impairment, Corneal opacity, Hearing impairment |
OMIM:150250 |
| Mucopolysaccharidosis, Type Vi |
|
Corneal opacity, Hearing impairment |
OMIM:253200 |
| Mucopolysaccharidosis Type 2 |
|
Papilledema, Otosclerosis, Corneal opacity, Decreased nerve conduction velocity, Sensorineural he... |
ORPHA:580 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Tinnitus, Opacification of the corneal stroma, Hearing impairment |
ORPHA:79280 |
| Lathosterolosis |
|
Microcornea, Cataract, Opacification of the corneal stroma, Hearing impairment |
ORPHA:46059 |
| Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma |
ORPHA:42775 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Opacification of the corneal stroma |
OMIM:313400 |
| Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Cataract, Keratitis, Sensorineural hearing impairment, Optic atrophy... |
ORPHA:910 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Corneal opacity, Sclerocornea, Abnormal earlobe morphology, Cleft earlobe, Posterior embryotoxon,... |
ORPHA:2556 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cataract, Brushfield spots, Sensorineural hearing impairment, Optic nerve dysplasia, Optic atroph... |
OMIM:614866 |
| Proboscis Lateralis |
|
Cataract, Corneal opacity, Optic nerve hypoplasia, Optic disc coloboma, Microcornea, Iris coloboma |
ORPHA:141099 |
| Schimke Immunoosseous Dysplasia |
|
Astigmatism, Opacification of the corneal stroma |
OMIM:242900 |
| Mucopolysaccharidosis, Type Iva |
|
Opacification of the corneal stroma, Hearing impairment |
OMIM:253000 |
| Chime Syndrome |
|
Corneal opacity, Hearing impairment |
ORPHA:3474 |
| Galloway-Mowat Syndrome 1 |
|
Cataract, Optic atrophy, Hypoplasia of the iris, Low-set ears, Opacification of the corneal strom... |
OMIM:251300 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Otosclerosis, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, Cond... |
ORPHA:217085 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Corneal opacity |
ORPHA:79396 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Papilledema, Otosclerosis, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, Cond... |
ORPHA:217093 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Sclerocornea |
OMIM:300952 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Posteriorly rotated ears, Sensorineural hearing impairment, Corneal opacity, Low-set ears |
OMIM:608670 |
| Encephalocraniocutaneous Lipomatosis |
|
Corneal opacity, Iris coloboma |
ORPHA:2396 |
| Peters Plus Syndrome |
|
Low-set, posteriorly rotated ears, Microtia, second degree, Cataract, Corneal opacity, Optic atro... |
ORPHA:709 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Cataract, Corneal opacity |
OMIM:274000 |
| Meckel Syndrome |
|
Low-set, posteriorly rotated ears, Cataract, Sclerocornea, Optic atrophy, Microcornea, Aplasia/Hy... |
ORPHA:564 |
| Neurofibromatosis Type 1 |
|
Cataract, Corneal opacity, Lisch nodules, Heterochromia iridis, Hearing impairment |
ORPHA:636 |
| Neurocardiofaciodigital Syndrome |
|
Optic disc pallor, Cataract, Sclerocornea, Hearing impairment |
OMIM:619869 |
| Van Den Ende-Gupta Syndrome |
|
Posteriorly rotated ears, Sclerocornea, Overfolded helix, Protruding ear, Small earlobe |
OMIM:600920 |
| Wolf-Hirschhorn Syndrome |
|
Low-set, posteriorly rotated ears, Sclerocornea, Optic atrophy, Microtia, Megalocornea, Iris colo... |
ORPHA:280 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Corneal opacity, Aganglionic megacolon, Keratitis, Corneal erosion, Astigmatism, Conjunctivitis, ... |
ORPHA:2273 |
| Fraser Syndrome 1 |
|
Corneal opacity, Abnormal pinna morphology, Cupped ear, Atresia of the external auditory canal, L... |
OMIM:219000 |
| Mosaic Trisomy 1 |
|
Low-set ears, Abnormal pinna morphology, Opacification of the corneal stroma |
ORPHA:1692 |
| Wilson Disease |
|
Decreased nerve conduction velocity, Kayser-Fleischer ring |
OMIM:277900 |
| Smith-Lemli-Opitz Syndrome |
|
Low-set, posteriorly rotated ears, Cataract, Aganglionic megacolon, Sclerocornea, Sensorineural h... |
ORPHA:818 |
| Oculoectodermal Syndrome |
|
Microcornea, Limbal dermoid, Astigmatism, Opacification of the corneal stroma |
OMIM:600268 |
| Autosomal Dominant Cutis Laxa |
|
Protruding ear, Corneal opacity, Low-set ears, Developmental cataract |
ORPHA:90348 |
| Osteogenesis Imperfecta |
|
Mixed hearing impairment, Progressive hearing impairment, Corneal opacity, Hearing impairment |
ORPHA:666 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Sensorineural hearing impairment, Corneal opacity |
ORPHA:2072 |
| Williams Syndrome |
|
Low-set, posteriorly rotated ears, Flat cornea, Corneal opacity, Cataract, Macrotia, Sensorineura... |
ORPHA:904 |
| Stuve-Wiedemann Syndrome 1 |
|
Low-set ears, Abnormal autonomic nervous system physiology, Opacification of the corneal stroma |
OMIM:601559 |
| Gaucher Disease |
|
Corneal opacity, Hearing impairment |
ORPHA:355 |
| Kindler Epidermolysis Bullosa |
|
Conjunctivitis, Corneal opacity |
ORPHA:2908 |
| Hutchinson-Gilford Progeria Syndrome |
|
High-frequency sensorineural hearing impairment, Corneal opacity, Prominent ear helix, Low-freque... |
ORPHA:740 |
| Limb Body Wall Complex |
|
Lens subluxation, Corneal opacity, Iris coloboma |
ORPHA:2369 |
| Bartsocas-Papas Syndrome 1 |
|
Cupped ear, Popliteal pterygium, Microtia, Opacification of the corneal stroma, Low-set ears, Pte... |
OMIM:263650 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Optic atrophy, Buphthalmos, EEG abnormality, Opacification of the corneal stroma, Megal... |
OMIM:253280 |
| Gaucher Disease, Type Iiic |
|
Opacification of the corneal stroma |
OMIM:231005 |
| Hereditary Acrokeratotic Poikiloderma |
|
Hearing impairment, Opacification of the corneal stroma, Keratoconjunctivitis |
ORPHA:2907 |
| Lathosterolosis |
|
Conductive hearing impairment, Cataract, Opacification of the corneal stroma |
OMIM:607330 |
| Wiedemann-Rautenstrauch Syndrome |
|
Cataract, Corneal opacity, Posteriorly rotated ears, Optic atrophy, Low-set ears, Absent earlobe |
ORPHA:3455 |
| Mucolipidosis Ii Alpha/Beta |
|
Megalocornea, Opacification of the corneal stroma |
OMIM:252500 |
| Yunis-Varon Syndrome |
|
Cataract, Abnormal pinna morphology, Sclerocornea, Low-set ears, Hearing impairment |
ORPHA:3472 |
| Roberts-Sc Phocomelia Syndrome |
|
Cataract, Corneal opacity, Posteriorly rotated ears, Abnormal pinna morphology, Low-set ears, Opa... |
OMIM:268300 |
| Microphthalmia, Syndromic 6 |
|
Posteriorly rotated ears, Uplifted earlobe, Sclerocornea, Protruding ear, Microcornea, Low-set ea... |
OMIM:607932 |
| Fryns Syndrome |
|
Low-set ears, Aganglionic megacolon, Abnormal helix morphology, Opacification of the corneal stroma |
OMIM:229850 |
| Digeorge Syndrome |
|
Low-set ears, Posterior embryotoxon, Sclerocornea |
OMIM:188400 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Aganglionic megacolon, Keratitis, Opacification of the corneal stroma, Recurrent corneal erosions... |
OMIM:308205 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Optic nerve dysplasia, Opacification of the corneal stroma |
OMIM:615287 |
| Yunis-Varon Syndrome |
|
Cataract, Sclerocornea, Sensorineural hearing impairment, Cupped ear, Protruding ear, Prominent a... |
OMIM:216340 |
