| Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity, Respiratory insufficiency |
ORPHA:2432 |
| Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
| Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
| 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 |
| Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
| Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
| Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
| Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
| Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions |
OMIM:217800 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
| Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
| Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
| Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
| 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 |
| Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
| Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor... |
OMIM:619927 |
| Hyperlysinemia, Type I |
|
Hyperactivity, Ectopia lentis |
OMIM:238700 |
| Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
| Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
| Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
| Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
| Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
| Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
| Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
| Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis |
OMIM:257500 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
| Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
| Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma |
ORPHA:1473 |
| Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
| Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
| Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
| Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
| Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... |
OMIM:604229 |
| Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Cataract, Corneal opacity, Aggressive behavior, Myopic astigmatism, Microcornea, Astigmatism, Agi... |
OMIM:152950 |
| Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
| Recessive X-Linked Ichthyosis |
|
Attention deficit hyperactivity disorder, Opacification of the corneal stroma |
ORPHA:461 |
| Gómez-López-Hernández Syndrome |
|
Corneal opacity |
ORPHA:1532 |
| Morm Syndrome |
|
Hyperactivity, Cataract, Aggressive behavior |
ORPHA:75858 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
| Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
| Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... |
ORPHA:98973 |
| Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
| Phenylketonuria |
|
Hyperactivity, Cataract, Aggressive behavior, Blue irides, Compulsive behaviors, Attention defici... |
OMIM:261600 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity |
ORPHA:2370 |
| Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
| Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
| Norrie Disease |
|
Cataract, Corneal opacity, Aggressive behavior, Leukocoria, Hypoplasia of the iris, Buphthalmos, ... |
OMIM:310600 |
| Mucolipidosis Type Iii |
|
Corneal opacity |
ORPHA:577 |
| Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Atte... |
OMIM:620141 |
| Mucolipidosis Iv |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:252650 |
| Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea |
ORPHA:83461 |
| Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Cataract, Corneal opacity, Pneumonia |
ORPHA:1867 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Developmental cataract |
OMIM:618815 |
| Sialidosis Type 2 |
|
Dyspnea, Corneal opacity |
ORPHA:87876 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... |
OMIM:613270 |
| Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
| Perry Syndrome |
|
Hypoventilation, Central hypoventilation, Respiratory insufficiency, Inappropriate behavior, Disi... |
OMIM:168605 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity, Attention deficit hyperactivity disorder |
ORPHA:281090 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Blue irides, Recurrent hand flapping, Self-mutilation |
OMIM:615516 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Corneal opacity, Respiratory insufficiency |
OMIM:613153 |
| Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
| Erythrokeratodermia Variabilis |
|
Cataract, Corneal opacity |
ORPHA:317 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
| Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Neonatal respiratory distress, Corneal opacity |
OMIM:618961 |
| Hurler-Scheie Syndrome |
|
Rhinitis, Corneal opacity |
ORPHA:93476 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Hyperactivity, Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corn... |
OMIM:256800 |
| Harel-Yoon Syndrome |
|
Corneal opacity, Developmental cataract |
OMIM:617183 |
| Rodrigues Blindness |
|
Microcornea, Nasal flaring, Sclerocornea |
OMIM:268320 |
| Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization |
ORPHA:163934 |
| Wagro Syndrome |
|
Cataract, Corneal opacity, Aggressive behavior, Agitation, Compulsive behaviors, Aniridia, Polyph... |
OMIM:612469 |
| Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Corneal opacity |
ORPHA:2741 |
| Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... |
ORPHA:98957 |
| Bartsocas-Papas Syndrome 2 |
|
Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium |
OMIM:619339 |
| Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity |
ORPHA:290 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... |
OMIM:221900 |
| Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
| Alpha-Mannosidosis |
|
Cataract, Corneal opacity |
ORPHA:61 |
| Postpoliomyelitis Syndrome |
|
Hypoventilation, Respiratory insufficiency, Dysphagia |
ORPHA:2942 |
| Scheie Syndrome |
|
Corneal opacity |
OMIM:607016 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Corneal opacity |
OMIM:166300 |
| Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
| Sjogren-Larsson Syndrome |
|
Astigmatism, Opacification of the corneal epithelium |
OMIM:270200 |
| Short Syndrome |
|
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... |
ORPHA:3163 |
| Microphthalmia, Syndromic 16 |
|
Sclerocornea |
OMIM:611038 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal repetitive... |
OMIM:610042 |
| Athabaskan Brainstem Dysgenesis Syndrome |
|
Central hypoventilation |
OMIM:601536 |
| Mietens Syndrome |
|
Microcornea, Cataract, Corneal opacity, Sclerocornea |
ORPHA:2557 |
| Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Keratitis, Conjunctivitis, Corneal opacity |
OMIM:602562 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Corneal opacity |
ORPHA:2788 |
| Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
| Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... |
ORPHA:96125 |
| Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma |
OMIM:271630 |
| Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cataract, Corneal opacity |
ORPHA:496790 |
| Fish-Eye Disease |
|
Corneal opacity |
ORPHA:79292 |
| Alpha-Mannosidosis, Adult Form |
|
Cataract, Corneal opacity, Pneumonia |
ORPHA:309288 |
| Cystinosis |
|
Abnormal repetitive mannerisms, Polydipsia, Corneal opacity |
ORPHA:213 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Microcornea, Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea |
OMIM:615145 |
| Zellweger Syndrome |
|
Cataract, Corneal opacity, Brushfield spots, Respiratory insufficiency, Posterior embryotoxon |
ORPHA:912 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Developmental glaucoma, Corneal opacity |
ORPHA:1064 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca |
ORPHA:1806 |
| Al-Gazali Syndrome |
|
Recurrent pneumonia, Corneal opacity, Sclerocornea |
OMIM:609465 |
| Sialidosis Type 1 |
|
Cataract, Corneal opacity |
ORPHA:812 |
| Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
| Juvenile Sialidosis Type 2 |
|
Cataract, Corneal opacity, Dysphagia |
ORPHA:93399 |
| Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Hypoventilation, Breathing dysregulation |
OMIM:618232 |
| Scheie Syndrome |
|
Rhinitis, Corneal opacity |
ORPHA:93474 |
| Olmsted Syndrome 1 |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:614594 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Stridor, Hypoventilation, Apnea, Dysphagia |
OMIM:617143 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Abnormal cornea morphology, Corneal opacity |
ORPHA:357058 |
| Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract |
OMIM:221800 |
| Microphthalmia With Brain And Digit Anomalies |
|
Microcornea, Cataract, Iris coloboma, Sclerocornea |
ORPHA:139471 |
| Oculomaxillofacial Dysostosis |
|
Corneal opacity |
ORPHA:1794 |
| Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma |
OMIM:230650 |
| Gomez-Lopez-Hernandez Syndrome |
|
Self-injurious behavior, Hyperactivity, Opacification of the corneal stroma |
OMIM:601853 |
| Lowry-Maclean Syndrome |
|
Developmental glaucoma, Megalocornea, Corneal opacity |
ORPHA:2409 |
| Gm1 Gangliosidosis |
|
Oral aversion, Corneal opacity, Aspiration pneumonia, Dysphagia |
ORPHA:354 |
| Familial Dysautonomia |
|
Corneal opacity, Abnormal pupil morphology, Corneal erosion, Acrocyanosis, Heterochromia iridis |
ORPHA:1764 |
| Bartsocas-Papas Syndrome |
|
Popliteal pterygium, Corneal opacity |
ORPHA:1234 |
| Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
| Lcat Deficiency |
|
Corneal opacity |
ORPHA:650 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Corneal opacity |
OMIM:602400 |
| Walker-Warburg Syndrome |
|
Microcornea, Cataract, Corneal opacity, Iris coloboma |
ORPHA:899 |
| Hurler-Scheie Syndrome |
|
Pulmonary arterial hypertension, Corneal opacity |
OMIM:607015 |
| Farber Disease |
|
Respiratory distress, Corneal opacity, Respiratory insufficiency, Abnormal conjunctiva morphology... |
ORPHA:333 |
| Central Hypoventilation Syndrome, Congenital, 1 |
|
Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Hypoxemia, Nocturnal hypoventilation |
OMIM:209880 |
| Mucopolysaccharidosis Type 3 |
|
Hyperactivity, Cataract, Corneal opacity, Aggressive behavior, Hypersexuality, Upper airway obstr... |
ORPHA:581 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Astigmatism, Corneal opacity |
OMIM:301056 |
| Fucosidosis |
|
Acrocyanosis, Corneal opacity |
ORPHA:349 |
| 8Q21.11 Microdeletion Syndrome |
|
Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation |
ORPHA:284160 |
| Mucopolysaccharidosis, Type Ivb |
|
Restrictive ventilatory defect, Corneal opacity, Opacification of the corneal stroma |
OMIM:253010 |
| Mucolipidosis Type Iv |
|
Corneal opacity |
ORPHA:578 |
| Congenital Sialidosis Type 2 |
|
Cataract, Corneal opacity, Developmental cataract |
ORPHA:93400 |
| Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... |
OMIM:612109 |
| Oculocerebrocutaneous Syndrome |
|
Corneal opacity, Iris coloboma |
ORPHA:1647 |
| Wilson Disease |
|
Kayser-Fleischer ring, Hypersexuality, Aggressive behavior |
ORPHA:905 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
| Dyggve-Melchior-Clausen Disease |
|
Respiratory insufficiency due to muscle weakness, Hyperactivity, Corneal opacity |
ORPHA:239 |
| Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
| Coloboma, Ocular, Autosomal Dominant |
|
Corneal opacity, Peters anomaly |
OMIM:120200 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Conjunctival hyperemia, Cataract, Corneal opacity |
ORPHA:2399 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Corneal opacity, Developmental cataract |
OMIM:616603 |
| Schimke Immuno-Osseous Dysplasia |
|
Pulmonary arterial hypertension, Corneal opacity |
ORPHA:1830 |
| Multiple Sulfatase Deficiency |
|
Cataract, Corneal opacity |
ORPHA:585 |
| Histiocytoid Cardiomyopathy |
|
Cyanosis, Corneal opacity, Tachypnea, Cough, Megalocornea, Congenital aphakia |
ORPHA:137675 |
| Incontinentia Pigmenti |
|
Cataract, Corneal opacity, Keratitis, Attention deficit hyperactivity disorder, Pulmonary arteria... |
ORPHA:464 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma |
OMIM:601356 |
| Fabry Disease |
|
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Anorexia, Dyspnea, Chr... |
ORPHA:324 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Axenfeld anomaly, Opacification of the corneal stroma, Peters anomaly, Ocular anterior segment dy... |
OMIM:612582 |
| Sanjad-Sakati Syndrome |
|
Astigmatism, Corneal opacity |
ORPHA:2323 |
| Mucopolysaccharidosis Type 2 |
|
Hyperactivity, Corneal opacity, Impulsivity, Aggressive behavior, Upper airway obstruction, Abnor... |
ORPHA:580 |
| Mucolipidosis Iii Gamma |
|
Opacification of the corneal stroma |
OMIM:252605 |
| Mucopolysaccharidosis Type 1 |
|
Corneal opacity, Sinusitis, Apnea, Cough |
ORPHA:579 |
| Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Restlessness, Corneal opacity, Oral-pharyngeal dysphagia, Impaired orophary... |
OMIM:615273 |
| Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Pneumonia, Recurrent pneumonia, Keratoconjunctivitis, Opacification of the corneal stro... |
OMIM:158310 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Astigmatism, Aspiration pneumon... |
OMIM:619482 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Ocular albinism, Cataract, Corneal opacity, Iris hypopigmentation |
ORPHA:2719 |
| 3Q29 Microduplication Syndrome |
|
Aniridia, Cataract, Iris coloboma, Sclerocornea |
ORPHA:251038 |
| Tyrosinemia Type 2 |
|
Corneal opacity |
ORPHA:28378 |
| Mucopolysaccharidosis, Type Vii |
|
Corneal opacity, Airway obstruction |
OMIM:253220 |
| Muscular Dystrophy, Duchenne Type |
|
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... |
OMIM:310200 |
| Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... |
ORPHA:70 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Corneal opacity |
OMIM:163200 |
| Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
| Hurler Syndrome |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:607014 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Brushfield spots, Cataract, Apnea, Opacification of the corneal stroma |
OMIM:214110 |
| Tbck-Related Intellectual Disability Syndrome |
|
Asthma, Corneal opacity, Respiratory insufficiency |
ORPHA:488632 |
| De Barsy Syndrome |
|
Emphysema, Cataract, Corneal opacity |
ORPHA:2962 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Corneal opacity, Buphthalmos, Peters anomaly, Megalocornea |
OMIM:236670 |
| Stromme Syndrome |
|
Cataract, Sclerocornea, Microcornea, Peters anomaly, Iris coloboma |
OMIM:243605 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae |
OMIM:601499 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Abnormal repetitive mannerisms, Astigmatism, Corneal opacity, Attention deficit hyperactivity dis... |
ORPHA:464311 |
| Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... |
ORPHA:98915 |
| Mucopolysaccharidosis Type 7 |
|
Corneal opacity |
ORPHA:584 |
| Multiple Sulfatase Deficiency |
|
Corneal opacity |
OMIM:272200 |
| Pelvis-Shoulder Dysplasia |
|
Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Astigmatism, Sclerocornea |
ORPHA:2095 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ectopia pupillae, Corneal opacity, Lens subluxation |
ORPHA:85167 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microcornea, Ectopia pupillae, Cataract, Sclerocornea |
OMIM:615877 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Abnormal repetitive mannerisms, Hyperactivity, Astigmatism, Corneal opacity |
ORPHA:464306 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Iris coloboma, Sclerocornea |
ORPHA:77298 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Cataract, Corneal opacity, Abnormal pupil morphology, Respiratory insufficiency, Buphthalmos, Sel... |
ORPHA:534 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Corneal opacity, Corneal dystrophy, Aggressive behavior, Buphthalmos, Keratoconjunctivitis sicca,... |
ORPHA:495875 |
| Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal... |
ORPHA:649 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Corneal opacity, Posterior subcapsular cataract, Respiratory insufficiency, Restrictive ventilato... |
ORPHA:536471 |
| Focal Dermal Hypoplasia |
|
Hypoplasia of the iris, Corneal opacity, Iris coloboma, Ectopia lentis |
ORPHA:2092 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Cataract, Opacification of the corneal stroma |
ORPHA:3453 |
| Mucopolysaccharidosis Type 4 |
|
Corneal opacity |
ORPHA:582 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hypoventilation, Recurrent pneumonia, Astigmatism |
OMIM:618493 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Opacification of the corneal stroma |
OMIM:215250 |
| Hurler Syndrome |
|
Rhinitis, Corneal opacity |
ORPHA:93473 |
| Premature Aging Syndrome, Penttinen Type |
|
Corneal stromal edema, Corneal opacity |
OMIM:601812 |
| Alpha-Mannosidosis, Infantile Form |
|
Astigmatism, Corneal opacity, Pneumonia, Cataract |
ORPHA:309282 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Peripheral opacification of the cornea, Corneal opacity |
OMIM:259600 |
| Mosaic Trisomy 9 |
|
Corneal opacity |
ORPHA:99776 |
| Rabin-Pappas Syndrome |
|
Tracheomalacia, Hypoventilation, Cataract |
OMIM:620155 |
| Schimke Immunoosseous Dysplasia |
|
Dyspnea, Astigmatism, Pulmonary arterial hypertension, Opacification of the corneal stroma |
OMIM:242900 |
| Cystinosis, Adult Nonnephropathic |
|
Corneal crystals |
OMIM:219750 |
| Moebius Syndrome |
|
Corneal opacity, Dysphagia |
ORPHA:570 |
| Mucopolysaccharidosis, Type Vi |
|
Restrictive ventilatory defect, Corneal opacity, Pneumonia, Pulmonary arterial hypertension |
OMIM:253200 |
| Galactosialidosis |
|
Conjunctival telangiectasia, Opacification of the corneal stroma |
OMIM:256540 |
| Tangier Disease |
|
Opacification of the corneal stroma |
OMIM:205400 |
| Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Limbal dermoid, Sclerocornea |
OMIM:613001 |
| Mosaic Trisomy 8 |
|
Corneal opacity |
ORPHA:96061 |
| Mucopolysaccharidosis, Type Iva |
|
Restrictive ventilatory defect, Recurrent pneumonia, Bronchoconstriction, Opacification of the co... |
OMIM:253000 |
| Fryns Syndrome |
|
Corneal opacity |
ORPHA:2059 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Cataract, Apnea, Corneal opacity |
ORPHA:1052 |
| Oculoectodermal Syndrome |
|
Hyperactivity, Microcornea, Astigmatism, Opacification of the corneal stroma, Limbal dermoid |
OMIM:600268 |
| Pseudo-Torch Syndrome 1 |
|
Cataract, Opacification of the corneal stroma |
OMIM:251290 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Respiratory insufficiency, Dysphagia, Pulmonary arterial hypertension, Respirato... |
ORPHA:258 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Neonatal respiratory distress, Cataract, Brushfield spots, Opacification of the corneal stroma, D... |
OMIM:214100 |
| 3Mc Syndrome 3 |
|
Corneal opacity |
OMIM:248340 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Hypoventilation |
OMIM:620275 |
| Encephalocraniocutaneous Lipomatosis |
|
Pulmonary arterial hypertension, Corneal opacity, Iris coloboma |
ORPHA:2396 |
| Mucopolysaccharidosis Type 6 |
|
Sinusitis, Opacification of the corneal stroma |
ORPHA:583 |
| Mucolipidosis Iii Alpha/Beta |
|
Opacification of the corneal stroma, Hyperopic astigmatism |
OMIM:252600 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Corneal opacity, Sclerocornea, Dyspnea, Respiratory failure, Posterior embr... |
ORPHA:2556 |
| Prader-Willi Syndrome |
|
Hypoventilation, Self-injurious behavior, Attention deficit hyperactivity disorder, Polyphagia, I... |
OMIM:176270 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Cataract, Sclerocornea |
OMIM:614230 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Corneal opacity |
ORPHA:364577 |
| Apolipoprotein A-I Deficiency |
|
Opacification of the corneal stroma |
ORPHA:425 |
| Carpenter Syndrome 1 |
|
Microcornea, Opacification of the corneal stroma |
OMIM:201000 |
| Larsen Syndrome |
|
Tracheomalacia, Corneal opacity |
OMIM:150250 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of the iris, Ectopia ... |
OMIM:175780 |
| Bethlem Myopathy |
|
Hypoventilation, Reduced maximal expiratory pressure |
ORPHA:610 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Cyanosis, Central hypoventilation, Aggressive behavior, Asthma, Cardiorespirator... |
ORPHA:293987 |
| Neurofibromatosis Type 1 |
|
Cataract, Corneal opacity, Attention deficit hyperactivity disorder, Lisch nodules, Heterochromia... |
ORPHA:636 |
| Gaucher Disease |
|
Pulmonary arterial hypertension, Corneal opacity, Respiratory insufficiency, Dysphagia |
ORPHA:355 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Opacification of the corneal stroma |
OMIM:313400 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Hypoventilation |
OMIM:606056 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Corneal opacity, Pulmonary arterial hypertension, Abnormal temp... |
ORPHA:2072 |
| Stuve-Wiedemann Syndrome 1 |
|
Apnea, Respiratory insufficiency, Opacification of the corneal stroma, Dysphagia, Pulmonary arter... |
OMIM:601559 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Corneal opacity |
ORPHA:79396 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Iris coloboma, Sclerocornea, Peters anomaly |
OMIM:309801 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Cataract, Corneal opacity |
OMIM:274000 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Restrictive ventilatory defect, Corneal opacity, Upper airway obstruction |
ORPHA:217085 |
| Kindler Epidermolysis Bullosa |
|
Conjunctivitis, Dysphagia, Corneal opacity |
ORPHA:2908 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Restrictive ventilatory defect, Corneal opacity, Upper airway obstruction |
ORPHA:217093 |
| Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Apnea |
ORPHA:79330 |
| Ablepharon Macrostomia Syndrome |
|
Corneal erosion, Corneal opacity |
ORPHA:920 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Sclerocornea |
OMIM:300952 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Autosomal Dominant Cutis Laxa |
|
Emphysema, Corneal opacity, Bronchiectasis, Developmental cataract |
ORPHA:90348 |
| Smith-Lemli-Opitz Syndrome |
|
Cataract, Sclerocornea, Self-injurious behavior, Attention deficit hyperactivity disorder, Iris c... |
ORPHA:818 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Anisocoria, Hypoventilation, Respiratory insufficiency |
ORPHA:99949 |
| Van Den Ende-Gupta Syndrome |
|
Stridor, Sclerocornea |
OMIM:600920 |
| Hutchinson-Gilford Progeria Syndrome |
|
Cyanosis, Corneal opacity, Upper airway obstruction, Pulmonary arterial hypertension, Corneal ulc... |
ORPHA:740 |
| Lathosterolosis |
|
Microcornea, Cataract, Opacification of the corneal stroma |
ORPHA:46059 |
| Osteogenesis Imperfecta |
|
Neonatal respiratory distress, Corneal opacity, Dysphagia |
ORPHA:666 |
| Williams Syndrome |
|
Flat cornea, Corneal opacity, Cataract, Blue irides, Aplasia/Hypoplasia of the iris, Attention de... |
ORPHA:904 |
| Phace Syndrome |
|
Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma |
ORPHA:42775 |
| Chime Syndrome |
|
Corneal opacity |
ORPHA:3474 |
| Tangier Disease |
|
Corneal opacity |
ORPHA:31150 |
| Proboscis Lateralis |
|
Microcornea, Cataract, Corneal opacity, Iris coloboma |
ORPHA:141099 |
| Wilson Disease |
|
Kayser-Fleischer ring, Dysphagia |
OMIM:277900 |
| Galloway-Mowat Syndrome 1 |
|
Hypoplasia of the iris, Cataract, Opacification of the corneal stroma |
OMIM:251300 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Brushfield spots, Cataract, Opacification of the corneal stroma |
OMIM:614866 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Corneal opacity, Keratitis, Corneal erosion, Astigmatism, Conjunctivitis |
ORPHA:2273 |
| Peters Plus Syndrome |
|
Cataract, Corneal opacity, Microcornea, Peters anomaly, Iris coloboma, Anterior chamber synechiae |
ORPHA:709 |
| Mosaic Trisomy 1 |
|
Opacification of the corneal stroma |
ORPHA:1692 |
| Meckel Syndrome |
|
Microcornea, Aplasia/Hypoplasia of the iris, Cataract, Sclerocornea |
ORPHA:564 |
| Limb Body Wall Complex |
|
Lens subluxation, Corneal opacity, Iris coloboma |
ORPHA:2369 |
| Microphthalmia, Syndromic 3 |
|
Cataract, Sclerocornea |
OMIM:206900 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Corneal opacity |
OMIM:608670 |
| Wolf-Hirschhorn Syndrome |
|
Megalocornea, Iris coloboma, Sclerocornea |
ORPHA:280 |
| Mucolipidosis Ii Alpha/Beta |
|
Megalocornea, Recurrent pneumonia, Opacification of the corneal stroma |
OMIM:252500 |
| Digeorge Syndrome |
|
Sclerocornea, Asthma, Chronic pulmonary obstruction, Recurrent pneumonia, Recurrent sinusitis, At... |
OMIM:188400 |
| Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Cataract, Keratitis, Opacification of the corneal stroma, Pterygium |
ORPHA:910 |
| Bartsocas-Papas Syndrome 1 |
|
Popliteal pterygium, Opacification of the corneal stroma, Pterygium, Corneal ulceration, Axillary... |
OMIM:263650 |
| Fraser Syndrome 1 |
|
Corneal opacity |
OMIM:219000 |
| Gaucher Disease, Type Iiic |
|
Opacification of the corneal stroma |
OMIM:231005 |
| Cockayne Syndrome B |
|
Microcornea, Hypoplasia of the iris, Opacification of the corneal stroma, Developmental cataract |
OMIM:133540 |
| Hereditary Acrokeratotic Poikiloderma |
|
Opacification of the corneal stroma, Keratoconjunctivitis |
ORPHA:2907 |
| Wiedemann-Rautenstrauch Syndrome |
|
Cataract, Corneal opacity |
ORPHA:3455 |
| Lathosterolosis |
|
Cataract, Opacification of the corneal stroma |
OMIM:607330 |
| Neurocardiofaciodigital Syndrome |
|
Cataract, Sclerocornea |
OMIM:619869 |
| Yunis-Varon Syndrome |
|
Pulmonary arterial hypertension, Cataract, Sclerocornea |
ORPHA:3472 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Spontaneous pneumothorax, Recurrent pneumonia, Respiratory failure, Polydipsia |
ORPHA:731 |
| Fryns Syndrome |
|
Chylothorax, Opacification of the corneal stroma |
OMIM:229850 |
| Cockayne Syndrome A |
|
Cataract, Opacification of the corneal stroma |
OMIM:216400 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Tracheomalacia, Hypoventilation |
OMIM:203700 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Buphthalmos, Megalocornea, Cataract, Opacification of the corneal stroma |
OMIM:253280 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Opacification of the corneal stroma |
ORPHA:79280 |
| Roberts-Sc Phocomelia Syndrome |
|
Cataract, Corneal opacity, Opacification of the corneal stroma |
OMIM:268300 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Apnea, Breathing dysregulation, Aspiration pneumonia, Dysphagia, Stereotypical h... |
ORPHA:438213 |
| Microphthalmia, Syndromic 6 |
|
Microcornea, Sclerocornea |
OMIM:607932 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Keratitis, Opacification of the corneal stroma, Corneal neovascularization, Recurrent corneal ero... |
OMIM:308205 |
| Yunis-Varon Syndrome |
|
Pulmonary arterial hypertension, Cataract, Aspiration pneumonia, Sclerocornea |
OMIM:216340 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Opacification of the corneal stroma |
OMIM:615287 |
