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 |
Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions |
OMIM:121820 |
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 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity, Thrombocytopenia |
ORPHA:1980 |
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 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
Hyperlysinemia, Type I |
|
Hyperactivity, Anemia, Ectopia lentis |
OMIM:238700 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... |
OMIM:610202 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity |
ORPHA:2432 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:608470 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Immunodeficiency 27A |
|
Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia, Histiocytosis |
OMIM:209950 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy... |
OMIM:617780 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Hepatosplenomegaly, Pancytopenia, Thrombocytosis, Microcytic anemia |
OMIM:604416 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor... |
OMIM:619927 |
Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Anorexia, Thrombocytopenia, Leukocytosis, Splenomegal... |
ORPHA:824 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
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 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma, Attention deficit hyperactivity disorder |
ORPHA:461 |
Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Asplenia, Coombs-positive hemolytic anemia, Thrombocytosis, Chemosis |
OMIM:614034 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... |
OMIM:604229 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma |
ORPHA:1473 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... |
OMIM:613270 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Tortuosity of conjunctival vessels, Aggressive behavior |
OMIM:248510 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Morm Syndrome |
|
Hyperactivity, Cataract, Aggressive behavior |
ORPHA:75858 |
Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal degeneration, Corneal dystrophy, Corneal guttata |
OMIM:610158 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Cataract, Corneal opacity, Aggressive behavior, Myopic astigmatism, Microcornea, Astigmatism, Agi... |
OMIM:152950 |
Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea |
ORPHA:83461 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... |
ORPHA:98973 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy, Corneal guttata |
OMIM:615523 |
Gómez-López-Hernández Syndrome |
|
Corneal opacity |
ORPHA:1532 |
Immunodeficiency 92 |
|
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... |
OMIM:619652 |
Phenylketonuria |
|
Hyperactivity, Cataract, Aggressive behavior, Blue irides, Attention deficit hyperactivity disord... |
OMIM:261600 |
Norrie Disease |
|
Cataract, Corneal opacity, Aggressive behavior, Leukocoria, Hypoplasia of the iris, Buphthalmos, ... |
OMIM:310600 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior |
OMIM:605899 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity, Attention deficit hyperactivity disorder, Acute leukemia |
ORPHA:281090 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity |
ORPHA:2370 |
Autoerythrocyte Sensitization Syndrome |
|
Autoimmune thrombocytopenia, Abnormal erythrocyte morphology, Self-injurious behavior, Thrombocyt... |
ORPHA:324636 |
Congenital Rubella Syndrome |
|
Cataract, Corneal opacity, Splenomegaly, Aplasia/Hypoplasia of the iris, Anemia, Thrombocytopenia |
ORPHA:290 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Atte... |
OMIM:620141 |
Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Beta-Ketothiolase Deficiency |
|
Thrombocytosis, Anorexia, Leukocytosis, Agitation, Oral aversion |
ORPHA:134 |
Mucolipidosis Type Iii |
|
Corneal opacity |
ORPHA:577 |
Mucolipidosis Iv |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:252650 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Blue irides, Recurrent hand flapping, Self-mutilation |
OMIM:615516 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Cogan Syndrome |
|
Keratitis, Leukocytosis, Conjunctivitis, Thrombocytosis, Anemia |
ORPHA:1467 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Developmental cataract |
OMIM:618815 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Leukopenia, Lymphopenia, Thrombocytosis, Anemia |
OMIM:615934 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... |
OMIM:243150 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Iron deficiency anemia, Thrombocytosis, Anemia |
OMIM:226300 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization |
ORPHA:163934 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
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 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Developmental glaucoma, Reti... |
ORPHA:124 |
Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... |
ORPHA:98957 |
Erythrokeratodermia Variabilis |
|
Cataract, Corneal opacity |
ORPHA:317 |
Microphthalmia, Syndromic 16 |
|
Sclerocornea |
OMIM:611038 |
Fish-Eye Disease |
|
Splenomegaly, Corneal opacity |
ORPHA:79292 |
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 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Anorexia, Leukocytosis, Leukopenia, Thrombocytosis, Anemia |
ORPHA:20 |
Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Dysphagia |
ORPHA:411777 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Sialidosis Type 2 |
|
Splenomegaly, Corneal opacity |
ORPHA:87876 |
Wagro Syndrome |
|
Cataract, Corneal opacity, Aggressive behavior, Agitation, Compulsive behaviors, Aniridia, Polyph... |
OMIM:612469 |
Celiac Disease, Susceptibility To, 1 |
|
Iron deficiency anemia, Macrocytic anemia, Thrombocytosis |
OMIM:212750 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly |
ORPHA:71493 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Corneal opacity |
ORPHA:2741 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Leukopenia, Agitation, Thrombocytos... |
OMIM:615688 |
Harel-Yoon Syndrome |
|
Corneal opacity, Developmental cataract |
OMIM:617183 |
Bartsocas-Papas Syndrome 2 |
|
Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium |
OMIM:619339 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... |
OMIM:221900 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Corneal opacity |
ORPHA:93476 |
Alpha-Mannosidosis |
|
Splenomegaly, Cataract, Corneal opacity |
ORPHA:61 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Poems Syndrome |
|
Thrombocytosis, Polycythemia |
ORPHA:2905 |
Neuroleptic Malignant Syndrome |
|
Leukocytosis, Agitation, Dysphagia, Thrombocytosis, Thrombocytopenia |
ORPHA:94093 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Primary congenital glaucoma, Reticulocytopenia,... |
OMIM:105650 |
Wilson Disease |
|
Aggressive behavior, Hypersexuality, Thrombocytopenia, Splenomegaly, Kayser-Fleischer ring, Anemia |
ORPHA:905 |
Lcat Deficiency |
|
Hemolytic anemia, Corneal opacity |
ORPHA:650 |
Scheie Syndrome |
|
Corneal opacity |
OMIM:607016 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Corneal opacity |
OMIM:613153 |
Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Thrombocytosis |
OMIM:212065 |
Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye... |
ORPHA:3260 |
Sjogren-Larsson Syndrome |
|
Astigmatism, Opacification of the corneal epithelium |
OMIM:270200 |
Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract |
OMIM:221800 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Corneal opacity |
OMIM:166300 |
Short Syndrome |
|
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... |
ORPHA:3163 |
Mietens Syndrome |
|
Microcornea, Cataract, Corneal opacity, Sclerocornea |
ORPHA:2557 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer cell count, Decreas... |
OMIM:301074 |
Alpha-Mannosidosis, Adult Form |
|
Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly |
ORPHA:309288 |
Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Keratitis, Conjunctivitis, Corneal opacity |
OMIM:602562 |
Neurotrophic Keratopathy |
|
Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosions, Corneal perfora... |
ORPHA:137596 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity |
OMIM:618961 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microcornea, Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea |
OMIM:615145 |
Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma |
OMIM:271630 |
Interstitial Lung And Liver Disease |
|
Thrombocytosis, Anemia |
OMIM:615486 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Developmental glaucoma, Corneal opacity |
ORPHA:1064 |
Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Self-injurious behavior, Ectopia ... |
ORPHA:96125 |
Trichohepatoenteric Syndrome 1 |
|
Splenomegaly, Thrombocytosis, Increased mean platelet volume |
OMIM:222470 |
Osteoporosis-Pseudoglioma Syndrome |
|
Corneal opacity |
ORPHA:2788 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca |
ORPHA:1806 |
Juvenile Sialidosis Type 2 |
|
Hepatosplenomegaly, Cataract, Corneal opacity, Dysphagia |
ORPHA:93399 |
Sialidosis Type 1 |
|
Splenomegaly, Cataract, Corneal opacity |
ORPHA:812 |
Cystinosis |
|
Polydipsia, Abnormal repetitive mannerisms, Corneal opacity |
ORPHA:213 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cataract, Corneal opacity |
ORPHA:496790 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity |
ORPHA:1867 |
Syndromic Diarrhea |
|
Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Lymphopenia |
ORPHA:84064 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
Brucellosis |
|
Anorexia, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomegaly, Leukopenia, Thrombocytosis... |
ORPHA:1304 |
Rodrigues Blindness |
|
Microcornea, Sclerocornea |
OMIM:268320 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Leukopenia, Astigmatism, Corneal opacity, Thrombocytopenia |
OMIM:301056 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Thrombocytosis, Leukocytosis, Hypochromic anemia |
OMIM:618213 |
Olmsted Syndrome 1 |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:614594 |
Microphthalmia With Brain And Digit Anomalies |
|
Microcornea, Cataract, Iris coloboma, Sclerocornea |
ORPHA:139471 |
Schimke Immuno-Osseous Dysplasia |
|
Corneal opacity, Thrombocytopenia, Decreased proportion of naive CD8 T cells, Abnormal proportion... |
ORPHA:1830 |
Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma |
OMIM:230650 |
Oculomaxillofacial Dysostosis |
|
Corneal opacity |
ORPHA:1794 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Abnormal cornea morphology, Corneal opacity |
ORPHA:357058 |
Farber Disease |
|
Corneal opacity, Thrombocytopenia, Hepatosplenomegaly, Abnormal conjunctiva morphology, Opacifica... |
ORPHA:333 |
Scheie Syndrome |
|
Splenomegaly, Corneal opacity |
ORPHA:93474 |
Gomez-Lopez-Hernandez Syndrome |
|
Self-injurious behavior, Hyperactivity, Opacification of the corneal stroma |
OMIM:601853 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Opacification of the corneal stroma, Abnormal T cell morphology |
OMIM:215250 |
Congenital Sialidosis Type 2 |
|
Hepatosplenomegaly, Cataract, Corneal opacity, Developmental cataract |
ORPHA:93400 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Corneal opacity |
OMIM:602400 |
Bartsocas-Papas Syndrome |
|
Popliteal pterygium, Corneal opacity |
ORPHA:1234 |
Lowry-Maclean Syndrome |
|
Developmental glaucoma, Megalocornea, Corneal opacity |
ORPHA:2409 |
Zellweger Syndrome |
|
Brushfield spots, Posterior embryotoxon, Corneal opacity, Cataract |
ORPHA:912 |
Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... |
OMIM:612109 |
Gm1 Gangliosidosis |
|
Corneal opacity, Splenomegaly, Hepatosplenomegaly, Dysphagia, Oral aversion |
ORPHA:354 |
Walker-Warburg Syndrome |
|
Microcornea, Cataract, Corneal opacity, Iris coloboma |
ORPHA:899 |
Coloboma, Ocular, Autosomal Dominant |
|
Corneal opacity, Peters anomaly |
OMIM:120200 |
Multiple Sulfatase Deficiency |
|
Splenomegaly, Cataract, Corneal opacity |
ORPHA:585 |
Mucolipidosis Type Iv |
|
Corneal opacity |
ORPHA:578 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
8Q21.11 Microdeletion Syndrome |
|
Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation |
ORPHA:284160 |
Al-Gazali Syndrome |
|
Corneal opacity, Sclerocornea |
OMIM:609465 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Cataract, Corneal opacity, Ocular albinism, Anemia, Iris hypopigmentation |
ORPHA:2719 |
Oculocerebrocutaneous Syndrome |
|
Corneal opacity, Iris coloboma |
ORPHA:1647 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Conjunctival hyperemia, Cataract, Corneal opacity |
ORPHA:2399 |
Galactosialidosis |
|
Conjunctival telangiectasia, Opacification of the corneal stroma, Hepatosplenomegaly |
OMIM:256540 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma |
OMIM:601356 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Corneal opacity |
OMIM:607015 |
Cystinosis, Adult Nonnephropathic |
|
Corneal crystals |
OMIM:219750 |
Cutis Laxa, Autosomal Dominant 3 |
|
Corneal opacity, Developmental cataract |
OMIM:616603 |
Mucopolysaccharidosis Type 3 |
|
Hyperactivity, Cataract, Corneal opacity, Aggressive behavior, Hypersexuality, Splenomegaly, Disi... |
ORPHA:581 |
Tangier Disease |
|
Thrombocytopenia, Corneal opacity, Anemia, Hepatosplenomegaly |
ORPHA:31150 |
Pseudo-Torch Syndrome 1 |
|
Splenomegaly, Thrombocytopenia, Cataract, Opacification of the corneal stroma |
OMIM:251290 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Thrombocytopenia, Abnormal T cell morphology, Astigmatism, Opacification of the cor... |
OMIM:242900 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Leukocytosis, Conjunctivitis, Abnormality of neutrophil physiology, Impai... |
ORPHA:2968 |
Familial Dysautonomia |
|
Abnormal pupil morphology, Heterochromia iridis, Corneal erosion, Corneal opacity |
ORPHA:1764 |
Stromme Syndrome |
|
Accessory spleen, Cataract, Sclerocornea, Microcornea, Peters anomaly, Iris coloboma |
OMIM:243605 |
Tyrosinemia Type 2 |
|
Corneal opacity |
ORPHA:28378 |
Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Corneal opacity |
ORPHA:584 |
Incontinentia Pigmenti |
|
Cataract, Corneal opacity, Eosinophilia, Keratitis, Attention deficit hyperactivity disorder |
ORPHA:464 |
Doors Syndrome |
|
Thrombocytosis, Cataract |
ORPHA:79500 |
Multiple Sulfatase Deficiency |
|
Splenomegaly, Corneal opacity |
OMIM:272200 |
Mucolipidosis Iii Gamma |
|
Opacification of the corneal stroma |
OMIM:252605 |
Sanjad-Sakati Syndrome |
|
Astigmatism, Corneal opacity |
ORPHA:2323 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Axenfeld anomaly, Opacification of the corneal stroma, Peters anomaly, Ocular anterior segment dy... |
OMIM:612582 |
3Q29 Microduplication Syndrome |
|
Aniridia, Cataract, Iris coloboma, Sclerocornea |
ORPHA:251038 |
Hurler Syndrome |
|
Splenomegaly, Corneal opacity, Opacification of the corneal stroma, Hepatosplenomegaly |
OMIM:607014 |
Mucopolysaccharidosis, Type Ivb |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:253010 |
Dyggve-Melchior-Clausen Disease |
|
Hyperactivity, Corneal opacity |
ORPHA:239 |
Pelvis-Shoulder Dysplasia |
|
Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae |
OMIM:601499 |
Lathosterolosis |
|
Cataract, Anisopoikilocytosis, Abnormal platelet morphology, Microcornea, Opacification of the co... |
ORPHA:46059 |
Tangier Disease |
|
Splenomegaly, Opacification of the corneal stroma |
OMIM:205400 |
Fucosidosis |
|
Corneal opacity |
ORPHA:349 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microcornea, Ectopia pupillae, Cataract, Sclerocornea |
OMIM:615877 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Corneal opacity |
OMIM:163200 |
Gorlin-Chaudhry-Moss Syndrome |
|
Astigmatism, Sclerocornea |
ORPHA:2095 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Corneal opacity, Buphthalmos, Peters anomaly, Megalocornea |
OMIM:236670 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Iris coloboma, Sclerocornea |
ORPHA:77298 |
Autoimmune Polyendocrinopathy Type 1 |
|
Cataract, Opacification of the corneal stroma |
ORPHA:3453 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Astigmatism, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Corneal op... |
ORPHA:464311 |
Oculocerebrorenal Syndrome Of Lowe |
|
Cataract, Corneal opacity, Abnormal pupil morphology, Buphthalmos, Self-injurious behavior, Anemi... |
ORPHA:534 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ectopia pupillae, Corneal opacity, Lens subluxation |
ORPHA:85167 |
Mucopolysaccharidosis Type 2 |
|
Hyperactivity, Corneal opacity, Impulsivity, Aggressive behavior, Splenomegaly, Abnormal temper t... |
ORPHA:580 |
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 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hyperactivity, Astigmatism, Abnormal repetitive mannerisms, Corneal opacity |
ORPHA:464306 |
Congenital Disorder Of Deglycosylation 1 |
|
Restlessness, Corneal opacity, Oral-pharyngeal dysphagia, Impaired oropharyngeal swallow response... |
OMIM:615273 |
Mucopolysaccharidosis, Type Vii |
|
Splenomegaly, Corneal opacity |
OMIM:253220 |
Mosaic Trisomy 9 |
|
Asplenia, Corneal opacity |
ORPHA:99776 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Marginal corneal dystrophy, Corneal crystals |
OMIM:210370 |
Fabry Disease |
|
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Anorexia, Anemia |
ORPHA:324 |
Focal Dermal Hypoplasia |
|
Hypoplasia of the iris, Corneal opacity, Iris coloboma, Ectopia lentis |
ORPHA:2092 |
Mucopolysaccharidosis Type 4 |
|
Corneal opacity |
ORPHA:582 |
Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Eosinophilia, Keratoconjunctivitis, Opacification of the corneal stroma, Corneal neovas... |
OMIM:158310 |
Alpha-Mannosidosis, Infantile Form |
|
Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly, Astigmatism |
ORPHA:309282 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Brushfield spots, Cataract, Hypoplasia of the thymus, Opacification of the corneal stroma |
OMIM:214110 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Peripheral opacification of the cornea, Corneal opacity |
OMIM:259600 |
Premature Aging Syndrome, Penttinen Type |
|
Corneal stromal edema, Corneal opacity |
OMIM:601812 |
Moebius Syndrome |
|
Corneal opacity, Dysphagia |
ORPHA:570 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Corneal opacity, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Hepatos... |
ORPHA:2072 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cataract, Corneal opacity, Eosinophilia, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Anemia |
OMIM:274000 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Limbal dermoid, Sclerocornea |
OMIM:613001 |
Mucopolysaccharidosis Type 1 |
|
Splenomegaly, Corneal opacity |
ORPHA:579 |
De Barsy Syndrome |
|
Cataract, Corneal opacity |
ORPHA:2962 |
Apolipoprotein A-I Deficiency |
|
Opacification of the corneal stroma |
ORPHA:425 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of ... |
OMIM:175780 |
Mosaic Trisomy 8 |
|
Corneal opacity |
ORPHA:96061 |
Hurler Syndrome |
|
Splenomegaly, Corneal opacity |
ORPHA:93473 |
Oculoectodermal Syndrome |
|
Hyperactivity, Microcornea, Astigmatism, Opacification of the corneal stroma, Limbal dermoid |
OMIM:600268 |
Fryns Syndrome |
|
Corneal opacity |
ORPHA:2059 |
Mucolipidosis Iii Alpha/Beta |
|
Opacification of the corneal stroma, Hyperopic astigmatism |
OMIM:252600 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Posterior subcapsular cataract, Megalocornea, Corneal opacity, Iris coloboma |
ORPHA:536471 |
Tbck-Related Intellectual Disability Syndrome |
|
Corneal opacity |
ORPHA:488632 |
3Mc Syndrome 3 |
|
Corneal opacity |
OMIM:248340 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Corneal opacity, Anemia |
ORPHA:79396 |
Gaucher Disease |
|
Pancytopenia, Corneal opacity, Splenomegaly, Anemia, Dysphagia, Thrombocytopenia |
ORPHA:355 |
Neurofibromatosis Type 1 |
|
Cataract, Corneal opacity, Chronic myelogenous leukemia, Attention deficit hyperactivity disorder... |
ORPHA:636 |
Wilson Disease |
|
Hemolytic anemia, Splenomegaly, Anemia, Kayser-Fleischer ring, Dysphagia, Thrombocytopenia |
OMIM:277900 |
Carpenter Syndrome 1 |
|
Microcornea, Polysplenia, Opacification of the corneal stroma |
OMIM:201000 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Pancytopenia, Opacification of the corneal stroma |
OMIM:231005 |
Kindler Epidermolysis Bullosa |
|
Corneal opacity, Conjunctivitis, Anemia, Dysphagia |
ORPHA:2908 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Cataract, Sclerocornea |
OMIM:614230 |
Mosaic Variegated Aneuploidy Syndrome |
|
Acute lymphoblastic leukemia, Cataract, Corneal opacity |
ORPHA:1052 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Corneal crystals |
OMIM:219900 |
Histiocytoid Cardiomyopathy |
|
Megalocornea, Corneal opacity, Congenital aphakia |
ORPHA:137675 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Corneal opacity |
ORPHA:364577 |
Mucopolysaccharidosis Type 6 |
|
Splenomegaly, Opacification of the corneal stroma |
ORPHA:583 |
Mucopolysaccharidosis, Type Vi |
|
Splenomegaly, Corneal opacity |
OMIM:253200 |
Lathosterolosis |
|
Cataract, Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, He... |
OMIM:607330 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Opacification of the corneal stroma |
OMIM:313400 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Brushfield spots, Cataract, Opacification of the corneal stroma, Dysphagia |
OMIM:214100 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Iris coloboma, Sclerocornea, Peters anomaly |
OMIM:309801 |
Chime Syndrome |
|
Corneal opacity, Acute leukemia |
ORPHA:3474 |
Encephalocraniocutaneous Lipomatosis |
|
Corneal opacity, Iris coloboma |
ORPHA:2396 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Sclerocornea |
OMIM:300952 |
Ablepharon Macrostomia Syndrome |
|
Corneal erosion, Corneal opacity |
ORPHA:920 |
Meckel Syndrome |
|
Accessory spleen, Cataract, Sclerocornea, Asplenia, Microcornea, Aplasia/Hypoplasia of the iris |
ORPHA:564 |
Phace Syndrome |
|
Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma |
ORPHA:42775 |
Larsen Syndrome |
|
Corneal opacity |
OMIM:150250 |
Osteogenesis Imperfecta |
|
Corneal opacity, Thrombocytopenia, Dysphagia |
ORPHA:666 |
Smith-Lemli-Opitz Syndrome |
|
Cataract, Sclerocornea, Self-injurious behavior, Attention deficit hyperactivity disorder, Iris c... |
ORPHA:818 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Posterior embryotoxon, Corneal opacity, Sclerocornea |
ORPHA:2556 |
Williams Syndrome |
|
Flat cornea, Cataract, Corneal opacity, Blue irides, Aplasia/Hypoplasia of the iris, Compulsive b... |
ORPHA:904 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cataract, Brushfield spots, Splenomegaly, Hepatosplenomegaly, Opacification of the corneal stroma |
OMIM:614866 |
Proboscis Lateralis |
|
Microcornea, Cataract, Corneal opacity, Iris coloboma |
ORPHA:141099 |
Mucopolysaccharidosis, Type Iva |
|
Opacification of the corneal stroma |
OMIM:253000 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Splenomegaly, Corneal opacity, Hepatosplenomegaly |
ORPHA:217085 |
Galloway-Mowat Syndrome 1 |
|
Hypoplasia of the iris, Cataract, Opacification of the corneal stroma |
OMIM:251300 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Splenomegaly, Corneal opacity, Hepatosplenomegaly |
ORPHA:217093 |
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 |
Stuve-Wiedemann Syndrome 1 |
|
Opacification of the corneal stroma, Dysphagia |
OMIM:601559 |
Limb Body Wall Complex |
|
Lens subluxation, Corneal opacity, Iris coloboma |
ORPHA:2369 |
Mosaic Trisomy 1 |
|
Opacification of the corneal stroma |
ORPHA:1692 |
Microphthalmia, Syndromic 3 |
|
Cataract, Sclerocornea |
OMIM:206900 |
Digeorge Syndrome |
|
Sclerocornea, Thrombocytopenia, Splenomegaly, Hypoplasia of the thymus, Attention deficit hyperac... |
OMIM:188400 |
Van Den Ende-Gupta Syndrome |
|
Sclerocornea |
OMIM:600920 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Corneal opacity |
OMIM:608670 |
Autosomal Dominant Cutis Laxa |
|
Corneal opacity, Developmental cataract |
ORPHA:90348 |
Wolf-Hirschhorn Syndrome |
|
Megalocornea, Iris coloboma, Sclerocornea |
ORPHA:280 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Cataract, Keratitis, Opacification of the corneal stroma, Pterygium |
ORPHA:910 |
Mucolipidosis Ii Alpha/Beta |
|
Splenomegaly, Megalocornea, Opacification of the corneal stroma |
OMIM:252500 |
Bartsocas-Papas Syndrome 1 |
|
Popliteal pterygium, Opacification of the corneal stroma, Pterygium, Corneal ulceration, Axillary... |
OMIM:263650 |
Cockayne Syndrome B |
|
Splenomegaly, Developmental cataract, Microcornea, Hypoplasia of the iris, Opacification of the c... |
OMIM:133540 |
Fraser Syndrome 1 |
|
Corneal opacity |
OMIM:219000 |
Hutchinson-Gilford Progeria Syndrome |
|
Corneal ulceration, Corneal opacity |
ORPHA:740 |
Hereditary Acrokeratotic Poikiloderma |
|
Opacification of the corneal stroma, Keratoconjunctivitis |
ORPHA:2907 |
Neurocardiofaciodigital Syndrome |
|
Cataract, Sclerocornea |
OMIM:619869 |
Wiedemann-Rautenstrauch Syndrome |
|
Cataract, Corneal opacity |
ORPHA:3455 |
Cockayne Syndrome A |
|
Splenomegaly, Cataract, Opacification of the corneal stroma |
OMIM:216400 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Opacification of the corneal stroma |
ORPHA:79280 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Cataract, Corneal opacity, Opacification of the corneal stroma |
OMIM:268300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Buphthalmos, Megalocornea, Cataract, Opacification of the corneal stroma |
OMIM:253280 |
Yunis-Varon Syndrome |
|
Cataract, Sclerocornea |
ORPHA:3472 |
Fryns Syndrome |
|
Polysplenia, Opacification of the corneal stroma |
OMIM:229850 |
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 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Opacification of the corneal stroma |
OMIM:615287 |
Yunis-Varon Syndrome |
|
Cataract, Sclerocornea |
OMIM:216340 |