| Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal dystrophy, Corneal opacity |
OMIM:300779 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal dystrophy, Corneal opacity |
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 |
| Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
| Thrombocythemia 1 |
|
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... |
OMIM:187950 |
| Asplenia, Isolated Congenital |
|
Howell-Jolly bodies, Thrombocytosis, Asplenia |
OMIM:271400 |
| Cataract-Microcornea Syndrome |
|
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma |
ORPHA:1377 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:1490 |
| Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Ectopia lentis, Corneal opacity |
OMIM:613086 |
| Corneal Dystrophy, Groenouw Type I |
|
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy |
OMIM:121900 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... |
OMIM:202700 |
| Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
| Central Cloudy Dystrophy Of Francois |
|
Corneal dystrophy, Central corneal dystrophy |
OMIM:217600 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Keratitis, Hereditary |
|
Opacification of the corneal stroma, Keratitis |
OMIM:148190 |
| Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Polycythemia Vera |
|
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... |
OMIM:263300 |
| Thiel-Behnke Corneal Dystrophy |
|
Recurrent corneal erosions, Astigmatism, Subepithelial corneal opacities, Central corneal dystrop... |
ORPHA:98960 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:3177 |
| Immunodeficiency 69 |
|
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... |
OMIM:618963 |
| Lattice Corneal Dystrophy Type I |
|
Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification... |
ORPHA:98964 |
| Corneal Dystrophy, Epithelial Basement Membrane |
|
Recurrent corneal erosions, Corneal dystrophy, Map-dot-fingerprint corneal dystrophy |
OMIM:121820 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| 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 |
|
Thrombocytopenia, Corneal opacity |
ORPHA:1980 |
| Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
| X-Linked Corneal Dermoid |
|
Corneal opacity, Abnormal pupil morphology |
ORPHA:1661 |
| Macular Dystrophy, Corneal |
|
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea |
OMIM:217800 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... |
ORPHA:75564 |
| Anterior Segment Dysgenesis 8 |
|
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... |
OMIM:617319 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... |
OMIM:616689 |
| Cataract 21, Multiple Types |
|
Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, Cerulean cataract, I... |
OMIM:610202 |
| Chronic Myeloid Leukemia |
|
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... |
ORPHA:521 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... |
ORPHA:86841 |
| Ring Dermoid Of Cornea |
|
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnormal con... |
OMIM:180550 |
| Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation, Motor stereotypy |
DECIPHER:8 |
| Cornea Plana 2, Autosomal Recessive |
|
Corneal arcus, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat cornea |
OMIM:217300 |
| Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
| Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity |
ORPHA:2432 |
| Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
| Corneal Dystrophy And Perceptive Deafness |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:217400 |
| Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
| Corneal Dystrophy, Reis-Bucklers Type |
|
Opacification of the corneal stroma, Corneal dystrophy, Corneal opacity, Corneal erosion |
OMIM:608470 |
| Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... |
OMIM:269400 |
| Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
| X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Motor stereotypy |
OMIM:300271 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... |
OMIM:309548 |
| Immunodeficiency 27A |
|
Anorexia, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocytosis, Histiocytosis |
OMIM:209950 |
| Fraxe Intellectual Disability |
|
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... |
ORPHA:100973 |
| Anterior Segment Dysgenesis 6 |
|
Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m... |
OMIM:617315 |
| Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal degeneration, Corneal stromal edema, Corneal dystrophy, Descemet Membrane Folds, Corneal ... |
OMIM:136800 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis |
OMIM:619281 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An... |
OMIM:617780 |
| Granular Corneal Dystrophy Type Ii |
|
Recurrent corneal erosions, Granular corneal dystrophy, Central opacification of the cornea, Sube... |
ORPHA:98963 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma... |
OMIM:122000 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Thrombocytosis, Hepatosplenomegaly, Microcytic anemia, Pancytopenia |
OMIM:604416 |
| Primary Myelofibrosis |
|
Anorexia, Anemia, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, Poikilocytosis, Hepat... |
ORPHA:824 |
| Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
| Essential Thrombocythemia |
|
Acute leukemia, Thrombocytosis, Leukocytosis, Abnormal platelet morphology, Splenomegaly, Abnorma... |
ORPHA:3318 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Increased corneal ... |
ORPHA:293603 |
| Peters Anomaly |
|
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... |
ORPHA:708 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
|
Hyperactivity, Dysphagia, Impulsivity |
OMIM:620448 |
| Morm Syndrome |
|
Cataract, Hyperactivity, Aggressive behavior |
ORPHA:75858 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Self-injurious behavior, Aggressive behavior |
OMIM:619031 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:301008 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Astigmatism, Hyperactivity, Compulsive behaviors, Motor tics, Attention deficit hyperactivity dis... |
OMIM:619927 |
| Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
| Granular Corneal Dystrophy Type I |
|
Recurrent corneal erosions, Abnormal corneal epithelium morphology, Central opacification of the ... |
ORPHA:98962 |
| Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
| Macular Corneal Dystrophy |
|
Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy... |
ORPHA:98969 |
| Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Corneal... |
ORPHA:171673 |
| Anterior Segment Dysgenesis 2 |
|
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... |
OMIM:610256 |
| Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
| Megalocornea |
|
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... |
OMIM:309300 |
| Keratoendotheliitis Fugax Hereditaria |
|
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis |
OMIM:148200 |
| Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
| Fuchs Endothelial Corneal Dystrophy |
|
Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Reduced number of... |
ORPHA:98974 |
| Anterior Segment Dysgenesis 1 |
|
Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c... |
OMIM:107250 |
| Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Self-injurious behavior, Agitation |
OMIM:619970 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Anterior Segment Dysgenesis 5 |
|
Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Developmental catarac... |
OMIM:604229 |
| Heme Oxygenase 1 Deficiency |
|
Asplenia, Chemosis, Coombs-positive hemolytic anemia, Thrombocytosis, Hemolytic anemia |
OMIM:614034 |
| Recessive X-Linked Ichthyosis |
|
Attention deficit hyperactivity disorder, Opacification of the corneal stroma |
ORPHA:461 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Posterior embryotoxon, Corneal opacity, Iris coloboma |
ORPHA:1473 |
| Epithelial Recurrent Erosion Dystrophy |
|
Recurrent corneal erosions, Corneal dystrophy, Subepithelial corneal opacities, Corneal scarring,... |
ORPHA:293381 |
| Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal stromal edema, Corneal dystrophy, Corneal guttata, Abnormal Descemet membrane morphology,... |
OMIM:613270 |
| Corneal Dystrophy, Thiel-Behnke Type |
|
Juvenile epithelial corneal dystrophy, Corneal dystrophy, Corneal scarring |
OMIM:602082 |
| Rutherfurd Syndrome |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:180900 |
| Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal degeneration, Corneal dystrophy, Corneal guttata |
OMIM:610158 |
| Autosomal Dominant Keratitis |
|
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... |
ORPHA:2334 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:617113 |
| Posterior Polymorphous Corneal Dystrophy |
|
Astigmatism, Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Incre... |
ORPHA:98973 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Agitation, Astigmatism, Myopic astigmatism, Microcornea, Corneal opacity, Attention deficit hyper... |
OMIM:152950 |
| Gómez-López-Hernández Syndrome |
|
Corneal opacity |
ORPHA:1532 |
| Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
| Brittle Cornea Syndrome 2 |
|
Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Sclerocornea, Flat cornea, ... |
OMIM:614170 |
| Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy, Corneal guttata |
OMIM:615523 |
| Immunodeficiency 92 |
|
Decreased proportion of class-switched memory B cells, Lymphocytosis, B lymphocytopenia, Leukocyt... |
OMIM:619652 |
| Sickle Cell Anemia |
|
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... |
ORPHA:232 |
| Norrie Disease |
|
Buphthalmos, Corneal opacity, Hypoplasia of the iris, Shallow anterior chamber, Leukocoria, Catar... |
OMIM:310600 |
| Glycine Encephalopathy 1 |
|
Hyperactivity, Restlessness, Impulsivity, Aggressive behavior |
OMIM:605899 |
| Amoebic Keratitis |
|
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... |
ORPHA:67043 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Acute leukemia, Attention deficit hyperactivity disorder, Corneal opacity |
ORPHA:281090 |
| Autoerythrocyte Sensitization Syndrome |
|
Obsessive-compulsive trait, Impaired platelet adhesion, Self-injurious behavior, Autoimmune throm... |
ORPHA:324636 |
| Phenylketonuria |
|
Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder, Cataract, Blue iri... |
OMIM:261600 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity |
ORPHA:2370 |
| Congenital Rubella Syndrome |
|
Anemia, Corneal opacity, Thrombocytopenia, Splenomegaly, Cataract, Aplasia/Hypoplasia of the iris |
ORPHA:290 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Myopic astigmatism, Hyperactivity, Impulsivity, Frequent temper tantrums, Developmental cataract,... |
OMIM:620141 |
| Beta-Ketothiolase Deficiency |
|
Anorexia, Agitation, Leukocytosis, Oral aversion, Thrombocytosis |
ORPHA:134 |
| Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... |
OMIM:615193 |
| Mucolipidosis Type Iii |
|
Corneal opacity |
ORPHA:577 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Recurrent hand flapping, Blue irides, Self-mutilation, Aggressive behavior |
OMIM:615516 |
| Mucolipidosis Iv |
|
Opacification of the corneal stroma, Corneal opacity |
OMIM:252650 |
| Cataract 1, Multiple Types |
|
Posterior subcapsular cataract, Nuclear cataract, Microcornea, Pulverulent cataract |
OMIM:116200 |
| Brachyolmia Type 1, Hobaek Type |
|
Opacification of the corneal stroma, Corneal opacity |
OMIM:271530 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Thrombocytosis, Anemia, Iron deficiency anemia |
OMIM:226300 |
| Cogan Syndrome |
|
Anemia, Leukocytosis, Keratitis, Conjunctivitis, Thrombocytosis |
ORPHA:1467 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Developmental cataract, Corneal opacity |
OMIM:618815 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Thrombocytosis, Leukopenia, Anemia, Lymphopenia |
OMIM:615934 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Leukocyt... |
OMIM:243150 |
| Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
| Diamond-Blackfan Anemia |
|
Developmental glaucoma, Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, N... |
ORPHA:124 |
| Atopic Keratoconjunctivitis |
|
Corneal neovascularization, Corneal opacity, Corneal scarring, Chemosis, Conjunctival hyperemia, ... |
ORPHA:163934 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Inappropriate behavior, Nail-biting, Hyperactivity, Attention deficit hyperactivity disorder, Sel... |
OMIM:619827 |
| Erythrokeratodermia Variabilis |
|
Cataract, Corneal opacity |
ORPHA:317 |
| Gelatinous Drop-Like Corneal Dystrophy |
|
Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacities, Central op... |
ORPHA:98957 |
| Microphthalmia, Syndromic 16 |
|
Sclerocornea |
OMIM:611038 |
| Fish-Eye Disease |
|
Corneal opacity, Splenomegaly |
ORPHA:79292 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior |
ORPHA:101039 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Recurrent corneal erosions, Corneal ulceration, Hyperactivity, Corneal scarring, Keratitis, Opaci... |
OMIM:256800 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Anorexia, Anemia, Leukocytosis, Leukopenia, Thrombocytosis |
ORPHA:20 |
| Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Dysphagia, Keratoconjunctivitis sicca, Conjunctivitis |
ORPHA:411777 |
| Congenital Primary Aphakia |
|
Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, C... |
ORPHA:83461 |
| Sialidosis Type 2 |
|
Corneal opacity, Splenomegaly |
ORPHA:87876 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Polycythemia Vera |
|
Acute leukemia, Leukocytosis, Polycythemia, Splenomegaly, Thrombocytosis |
ORPHA:729 |
| Wagro Syndrome |
|
Agitation, Aniridia, Corneal opacity, Compulsive behaviors, Polyphagia, Cataract, Aggressive beha... |
OMIM:612469 |
| Celiac Disease, Susceptibility To, 1 |
|
Thrombocytosis, Iron deficiency anemia, Macrocytic anemia |
OMIM:212750 |
| Familial Thrombocytosis |
|
Thrombocytosis, Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia |
ORPHA:71493 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Leukocoria... |
OMIM:221900 |
| Ophthalmomandibulomelic Dysplasia |
|
Corneal opacity, Megalocornea |
ORPHA:2741 |
| Harel-Yoon Syndrome |
|
Developmental cataract, Corneal opacity |
OMIM:617183 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Agitation, Anemia, Pancytopenia, Leukocytosis, Leukopenia, Splenomegaly, Hepatosplenomegaly, Lymp... |
OMIM:615688 |
| Hurler-Scheie Syndrome |
|
Corneal opacity, Splenomegaly |
ORPHA:93476 |
| Poems Syndrome |
|
Polycythemia, Thrombocytosis, Splenomegaly |
ORPHA:2905 |
| Bartsocas-Papas Syndrome 2 |
|
Popliteal pterygium, Axillary pterygium, Antecubital pterygium, Corneal opacity |
OMIM:619339 |
| Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:617981 |
| Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:617980 |
| Alpha-Mannosidosis |
|
Cataract, Corneal opacity, Splenomegaly |
ORPHA:61 |
| Diamond-Blackfan Anemia 1 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:105650 |
| Neuroleptic Malignant Syndrome |
|
Agitation, Leukocytosis, Thrombocytopenia, Dysphagia, Thrombocytosis |
ORPHA:94093 |
| Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay |
|
Self-injurious behavior, Corneal opacity |
OMIM:620469 |
| Wilson Disease |
|
Anemia, Kayser-Fleischer ring, Thrombocytopenia, Splenomegaly, Hypersexuality, Aggressive behavior |
ORPHA:905 |
| Lcat Deficiency |
|
Corneal opacity, Hemolytic anemia |
ORPHA:650 |
| 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 |
|
Anemia, Myeloproliferative disorder, Leukocytosis, Neutrophilia, Hepatosplenomegaly, Splenomegaly... |
ORPHA:3260 |
| Dermochondrocorneal Dystrophy |
|
Corneal dystrophy, Subepithelial corneal opacities, Anterior cortical cataract |
OMIM:221800 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Corneal opacity |
OMIM:166300 |
| Short Syndrome |
|
Abnormal anterior chamber morphology, Corneal opacity, Megalocornea, Hypoplasia of the iris, Post... |
ORPHA:3163 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Iron deficiency anemia, Thrombocytosis, Lymphocytosis, Decreased proportion of memory B cells, Re... |
OMIM:301074 |
| Mietens Syndrome |
|
Cataract, Microcornea, Sclerocornea, Corneal opacity |
ORPHA:2557 |
| Sjogren-Larsson Syndrome |
|
Opacification of the corneal epithelium, Astigmatism |
OMIM:270200 |
| Neurotrophic Keratopathy |
|
Recurrent corneal erosions, Astigmatism, Corneal ulceration, Corneal stromal edema, Corneal scarr... |
ORPHA:137596 |
| Alpha-Mannosidosis, Adult Form |
|
Cataract, Corneal opacity, Hepatosplenomegaly, Pancytopenia |
ORPHA:309288 |
| Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
| Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Keratitis, Corneal opacity, Conjunctivitis |
OMIM:602562 |
| Interstitial Lung And Liver Disease |
|
Thrombocytosis, Anemia |
OMIM:615486 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity |
OMIM:618961 |
| Microphthalmia/Coloboma 9 |
|
Ocular anterior segment dysgenesis, Sclerocornea, Microcornea, Iris coloboma |
OMIM:615145 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Developmental glaucoma, Corneal opacity, Aniridia |
ORPHA:1064 |
| Distal Deletion 6P |
|
Abnormal anterior chamber morphology, Corneal opacity, Hypoplasia of the iris, Posterior embryoto... |
ORPHA:96125 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Corneal opacity |
ORPHA:2788 |
| Trichohepatoenteric Syndrome 1 |
|
Increased mean platelet volume, Thrombocytosis, Splenomegaly |
OMIM:222470 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Corneal dystrophy, Microcornea, Sclerocornea, Cataract, Keratoconjunctivitis sicca |
ORPHA:1806 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cataract, Corneal opacity |
ORPHA:496790 |
| Juvenile Sialidosis Type 2 |
|
Cataract, Corneal opacity, Dysphagia, Hepatosplenomegaly |
ORPHA:93399 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity |
ORPHA:1867 |
| Persistent Hyperplastic Primary Vitreous |
|
Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Developmen... |
ORPHA:91495 |
| Sialidosis Type 1 |
|
Cataract, Corneal opacity, Splenomegaly |
ORPHA:812 |
| Cystinosis |
|
Polydipsia, Corneal opacity, Motor stereotypy |
ORPHA:213 |
| Syndromic Diarrhea |
|
Hypoplasia of the thymus, Increased mean platelet volume, Splenomegaly, Lymphopenia, Thrombocytosis |
ORPHA:84064 |
| Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma |
OMIM:271630 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Hypochromic anemia, Thrombocytosis, Leukocytosis |
OMIM:618213 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Thrombocytopenia, Astigmatism, Corneal opacity, Leukopenia |
OMIM:301056 |
| Rodrigues Blindness |
|
Microcornea, Sclerocornea |
OMIM:268320 |
| Brucellosis |
|
Anorexia, Anemia, Leukocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Thrombocytosis, Hyper... |
ORPHA:1304 |
| Olmsted Syndrome 1 |
|
Opacification of the corneal stroma, Corneal opacity |
OMIM:614594 |
| Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Microcornea, Sclerocornea, Iris coloboma |
ORPHA:139471 |
| Schimke Immuno-Osseous Dysplasia |
|
Anemia, Abnormal proportion of naive CD4 T cells, Corneal opacity, Decreased proportion of naive ... |
ORPHA:1830 |
| Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
| Ophthalmomandibulomelic Dysplasia |
|
Opacification of the corneal stroma, Megalocornea |
OMIM:164900 |
| Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma, Splenomegaly |
OMIM:230650 |
| Scheie Syndrome |
|
Corneal opacity, Splenomegaly |
ORPHA:93474 |
| Oculomaxillofacial Dysostosis |
|
Corneal opacity |
ORPHA:1794 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Abnormal T cell morphology, Opacification of the corneal stroma |
OMIM:215250 |
| Gomez-Lopez-Hernandez Syndrome |
|
Hyperactivity, Opacification of the corneal stroma, Self-injurious behavior |
OMIM:601853 |
| Farber Disease |
|
Anemia, Corneal opacity, Hepatosplenomegaly, Thrombocytopenia, Opacification of the corneal strom... |
ORPHA:333 |
| Bartsocas-Papas Syndrome |
|
Popliteal pterygium, Corneal opacity |
ORPHA:1234 |
| Congenital Sialidosis Type 2 |
|
Cataract, Developmental cataract, Corneal opacity, Hepatosplenomegaly |
ORPHA:93400 |
| Aniridia 1 |
|
Corneal neovascularization, Aniridia, Corneal erosion, Hypoplasia of the iris, Anterior subcapsul... |
OMIM:106210 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Corneal opacity |
OMIM:602400 |
| Multiple Sulfatase Deficiency |
|
Cataract, Corneal opacity, Splenomegaly |
ORPHA:585 |
| Oculoauricular Syndrome |
|
Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Microcornea, Posterior embryotoxon, D... |
OMIM:612109 |
| Zellweger Syndrome |
|
Cataract, Posterior embryotoxon, Corneal opacity, Brushfield spots |
ORPHA:912 |
| Lowry-Maclean Syndrome |
|
Developmental glaucoma, Corneal opacity, Megalocornea |
ORPHA:2409 |
| Al-Gazali Syndrome |
|
Sclerocornea, Corneal opacity |
OMIM:609465 |
| Walker-Warburg Syndrome |
|
Cataract, Microcornea, Corneal opacity, Iris coloboma |
ORPHA:899 |
| Kawasaki Disease |
|
Conjunctival hyperemia, Thrombocytosis, Leukocytosis, Conjunctivitis |
ORPHA:2331 |
| Gm1 Gangliosidosis |
|
Corneal opacity, Hepatosplenomegaly, Dysphagia, Splenomegaly, Oral aversion |
ORPHA:354 |
| Mucolipidosis Type Iv |
|
Corneal opacity |
ORPHA:578 |
| Microphthalmia/Coloboma 12 |
|
Peters anomaly, Corneal opacity |
OMIM:120200 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
| 8Q21.11 Microdeletion Syndrome |
|
Cataract, Iris hypopigmentation, Sclerocornea, Corneal opacity |
ORPHA:284160 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Anemia, Corneal opacity, Iris hypopigmentation, Cataract, Ocular albinism |
ORPHA:2719 |
| Mucopolysaccharidosis Type 3 |
|
Abnormal temper tantrums, Hyperactivity, Corneal opacity, Disinhibition, Splenomegaly, Dysphagia,... |
ORPHA:581 |
| Oculocerebrocutaneous Syndrome |
|
Corneal opacity, Iris coloboma |
ORPHA:1647 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Cataract, Conjunctival hyperemia, Corneal opacity |
ORPHA:2399 |
| Pseudo-Torch Syndrome 1 |
|
Cataract, Opacification of the corneal stroma, Thrombocytopenia, Splenomegaly |
OMIM:251290 |
| 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 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Developmental cataract, Corneal opacity |
OMIM:616603 |
| Hurler-Scheie Syndrome |
|
Corneal opacity, Splenomegaly |
OMIM:607015 |
| Cystinosis, Adult Nonnephropathic |
|
Corneal crystals |
OMIM:219750 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
| Scheie Syndrome |
|
Corneal opacity |
OMIM:607016 |
| Tangier Disease |
|
Thrombocytopenia, Corneal opacity, Anemia, Hepatosplenomegaly |
ORPHA:31150 |
| Familial Dysautonomia |
|
Abnormal pupil morphology, Heterochromia iridis, Corneal opacity, Corneal erosion |
ORPHA:1764 |
| Schimke Immunoosseous Dysplasia |
|
Abnormal T cell morphology, Astigmatism, Anemia, Pancytopenia, Thrombocytopenia, Lymphopenia, Opa... |
OMIM:242900 |
| Mucopolysaccharidosis Type 7 |
|
Corneal opacity, Splenomegaly |
ORPHA:584 |
| Multiple Sulfatase Deficiency |
|
Corneal opacity, Splenomegaly |
OMIM:272200 |
| Mucopolysaccharidosis, Type Ivb |
|
Opacification of the corneal stroma, Corneal opacity |
OMIM:253010 |
| Incontinentia Pigmenti |
|
Corneal opacity, Attention deficit hyperactivity disorder, Keratitis, Cataract, Eosinophilia |
ORPHA:464 |
| Stromme Syndrome |
|
Accessory spleen, Microcornea, Sclerocornea, Cataract, Peters anomaly, Iris coloboma |
OMIM:243605 |
| Tyrosinemia Type 2 |
|
Corneal opacity |
ORPHA:28378 |
| Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Impaired platelet aggregation, Leukocytosis, Abnormality of neutrophil ph... |
ORPHA:2968 |
| Doors Syndrome |
|
Cataract, Thrombocytosis |
ORPHA:79500 |
| 3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Aniridia, Iris coloboma |
ORPHA:251038 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Ocular anterior segment dysgenesis, Axenfeld anomaly, Posterior embryotoxon, Opacification of the... |
OMIM:612582 |
| Mucolipidosis Type Iii Alpha/Beta |
|
Corneal opacity |
ORPHA:423461 |
| Hurler Syndrome |
|
Opacification of the corneal stroma, Corneal opacity, Splenomegaly, Hepatosplenomegaly |
OMIM:607014 |
| Sanjad-Sakati Syndrome |
|
Astigmatism, Corneal opacity |
ORPHA:2323 |
| Pelvis-Shoulder Dysplasia |
|
Opacification of the corneal stroma, Iris coloboma |
OMIM:169550 |
| Fucosidosis |
|
Corneal opacity |
ORPHA:349 |
| Lathosterolosis |
|
Anisopoikilocytosis, Microcornea, Abnormal platelet morphology, Thrombocytopenia, Cataract, Opaci... |
ORPHA:46059 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Opacification of the corneal stroma, Microcornea, Anterior chamber synechiae |
OMIM:601499 |
| Tangier Disease |
|
Opacification of the corneal stroma, Splenomegaly |
OMIM:205400 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Microcornea, Sclerocornea, Ectopia pupillae |
OMIM:615877 |
| Fabry Disease |
|
Anorexia, Cornea verticillata, Anemia, Corneal dystrophy, Corneal opacity, Conjunctival telangiec... |
ORPHA:324 |
| Mucopolysaccharidosis Type 2 |
|
Abnormal temper tantrums, Hyperactivity, Corneal opacity, Impulsivity, Oppositional defiant disor... |
ORPHA:580 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Corneal opacity |
OMIM:163200 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Astigmatism, Sclerocornea |
ORPHA:2095 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Attention deficit hyperactivity disorder, Astigmatism, Corneal opacity, Motor stereotypy |
ORPHA:464311 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Corneal opacity, Megalocornea, Cataract, Buphthalmos, Peters anomaly |
OMIM:236670 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Cataract, Opacification of the corneal stroma |
ORPHA:3453 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Sclerocornea, Iris coloboma |
ORPHA:77298 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Lens subluxation, Corneal opacity, Ectopia pupillae |
ORPHA:85167 |
| Congenital Disorder Of Deglycosylation 1 |
|
Oral-pharyngeal dysphagia, Corneal ulceration, Corneal opacity, Impaired oral bolus formation, Im... |
OMIM:615273 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Anemia, Corneal opacity, Compulsive behaviors, Attention deficit hyperactivity disorder, Thromboc... |
ORPHA:534 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Hyperactivity, Astigmatism, Corneal opacity, Motor stereotypy |
ORPHA:464306 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Corneal dystrophy, Corneal opacity, Attention deficit hyperactivity disorder, Buphthalmos, Kerato... |
ORPHA:495875 |
| Mucopolysaccharidosis, Type Vii |
|
Corneal opacity, Splenomegaly |
OMIM:253220 |
| Mucopolysaccharidosis Type 4 |
|
Corneal opacity |
ORPHA:582 |
| Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Hypoplasia of the iris, Attention deficit hypera... |
ORPHA:649 |
| Mucoepithelial Dysplasia, Hereditary |
|
Corneal neovascularization, Keratoconjunctivitis, Eosinophilia, Cataract, Opacification of the co... |
OMIM:158310 |
| Mosaic Trisomy 9 |
|
Corneal opacity, Asplenia |
ORPHA:99776 |
| Focal Dermal Hypoplasia |
|
Ectopia lentis, Iris coloboma, Corneal opacity, Hypoplasia of the iris |
ORPHA:2092 |
| Bietti Crystalline Corneoretinal Dystrophy |
|
Marginal corneal dystrophy, Corneal crystals |
OMIM:210370 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Lens subluxation, Corneal opacity, Ectopia pupillae |
OMIM:608940 |
| Mucopolysaccharidosis Type 1 |
|
Corneal opacity, Splenomegaly |
ORPHA:579 |
| Alpha-Mannosidosis, Infantile Form |
|
Astigmatism, Pancytopenia, Corneal opacity, Hepatosplenomegaly, Cataract |
ORPHA:309282 |
| 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 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cataract, Opacification of the corneal stroma, Hypoplasia of the thymus, Brushfield spots |
OMIM:214110 |
| Encephalocraniocutaneous Lipomatosis |
|
Limbal dermoid, Sclerocornea, Hypoplasia of the iris |
OMIM:613001 |
| De Barsy Syndrome |
|
Cataract, Corneal opacity |
ORPHA:2962 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormal temper tantrums, Anemia, Pancytopenia, Corneal opacity, Hepatosplenomegaly, Abnormality ... |
ORPHA:2072 |
| Apolipoprotein A-I Deficiency |
|
Opacification of the corneal stroma |
ORPHA:425 |
| Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Opacification of the corneal stroma |
OMIM:184095 |
| Moebius Syndrome |
|
Corneal opacity, Dysphagia |
ORPHA:570 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Anemia, Corneal opacity, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, Cataract, Eosinophilia |
OMIM:274000 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal neovascularization, Astigmatism, Polycoria, Microcornea, Corneal opacity, Hypoplasia of t... |
OMIM:175780 |
| Hurler Syndrome |
|
Corneal opacity, Splenomegaly |
ORPHA:93473 |
| Mosaic Trisomy 8 |
|
Corneal opacity |
ORPHA:96061 |
| Fryns Syndrome |
|
Corneal opacity |
ORPHA:2059 |
| Oculoectodermal Syndrome |
|
Astigmatism, Hyperactivity, Microcornea, Limbal dermoid, Opacification of the corneal stroma |
OMIM:600268 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Posterior subcapsular cataract, Corneal opacity, Megalocornea, Iris coloboma |
ORPHA:536471 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Corneal opacity, Anemia |
ORPHA:79396 |
| Tbck-Related Intellectual Disability Syndrome |
|
Corneal opacity |
ORPHA:488632 |
| Gaucher Disease |
|
Anemia, Pancytopenia, Corneal opacity, Splenic infarction, Splenic rupture, Leukopenia, Splenomeg... |
ORPHA:355 |
| Kindler Epidermolysis Bullosa |
|
Corneal opacity, Anemia, Dysphagia, Conjunctivitis |
ORPHA:2908 |
| Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Corneal opacity |
OMIM:620519 |
| Carpenter Syndrome 1 |
|
Opacification of the corneal stroma, Microcornea, Polysplenia |
OMIM:201000 |
| 3Mc Syndrome 3 |
|
Corneal opacity |
OMIM:248340 |
| Gaucher Disease, Type Iiic |
|
Opacification of the corneal stroma, Splenomegaly, Pancytopenia |
OMIM:231005 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Cataract, Acute lymphoblastic leukemia, Corneal opacity |
ORPHA:1052 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Cataract, Sclerocornea |
OMIM:614230 |
| Histiocytoid Cardiomyopathy |
|
Megalocornea, Corneal opacity, Congenital aphakia |
ORPHA:137675 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Corneal opacity |
ORPHA:364577 |
| Mucopolysaccharidosis, Type Vi |
|
Corneal opacity, Splenomegaly |
OMIM:253200 |
| Mucopolysaccharidosis Type 6 |
|
Opacification of the corneal stroma, Splenomegaly |
ORPHA:583 |
| Neurofibromatosis Type 1 |
|
Corneal opacity, Heterochromia iridis, Attention deficit hyperactivity disorder, Chronic myelogen... |
ORPHA:636 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Opacification of the corneal stroma |
OMIM:313400 |
| Mucolipidosis Iii Gamma |
|
Opacification of the corneal stroma |
OMIM:252605 |
| Wilson Disease |
|
Sunflower cataract, Anemia, Kayser-Fleischer ring, Thrombocytopenia, Splenomegaly, Dysphagia, Hem... |
OMIM:277900 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Cataract, Opacification of the corneal stroma, Dysphagia, Brushfield spots |
OMIM:214100 |
| Encephalocraniocutaneous Lipomatosis |
|
Corneal opacity, Iris coloboma |
ORPHA:2396 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Peters anomaly, Sclerocornea, Iris coloboma |
OMIM:309801 |
| Mucolipidosis Iii Alpha/Beta |
|
Opacification of the corneal stroma, Hyperopic astigmatism |
OMIM:252600 |
| Chime Syndrome |
|
Acute leukemia, Corneal opacity |
ORPHA:3474 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Sclerocornea |
OMIM:300952 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Posterior embryotoxon, Sclerocornea, Corneal opacity |
ORPHA:2556 |
| Ablepharon Macrostomia Syndrome |
|
Corneal opacity, Corneal erosion |
ORPHA:920 |
| Osteogenesis Imperfecta |
|
Thrombocytopenia, Corneal opacity, Dysphagia |
ORPHA:666 |
| Mucopolysaccharidosis, Type Iva |
|
Opacification of the corneal stroma |
OMIM:253000 |
| Smith-Lemli-Opitz Syndrome |
|
Attention deficit hyperactivity disorder, Sclerocornea, Cataract, Self-injurious behavior, Iris c... |
ORPHA:818 |
| Meckel Syndrome |
|
Accessory spleen, Microcornea, Asplenia, Sclerocornea, Cataract, Aplasia/Hypoplasia of the iris |
ORPHA:564 |
| Phace Syndrome |
|
Heterochromia iridis, Sclerocornea, Lens coloboma, Cataract, Iris coloboma |
ORPHA:42775 |
| Larsen Syndrome |
|
Corneal opacity |
OMIM:150250 |
| Williams Syndrome |
|
Corneal opacity, Megalocornea, Compulsive behaviors, Attention deficit hyperactivity disorder, Po... |
ORPHA:904 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatosplenomegaly, Splenomegaly, Brushfield spots, Cataract, Opacification of the corneal stroma |
OMIM:614866 |
| Proboscis Lateralis |
|
Cataract, Microcornea, Corneal opacity, Iris coloboma |
ORPHA:141099 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Corneal opacity, Splenomegaly, Hepatosplenomegaly |
ORPHA:217085 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Corneal opacity, Splenomegaly, Hepatosplenomegaly |
ORPHA:217093 |
| Peters Plus Syndrome |
|
Microcornea, Corneal opacity, Cataract, Peters anomaly, Anterior chamber synechiae, Iris coloboma |
ORPHA:709 |
| Galloway-Mowat Syndrome 1 |
|
Cataract, Opacification of the corneal stroma, Hypoplasia of the iris |
OMIM:251300 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Astigmatism, Corneal erosion, Corneal opacity, Keratitis, Conjunctivitis |
ORPHA:2273 |
| 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 |
|
Anemia, Hypoplasia of the thymus, Posterior embryotoxon, Sclerocornea, Splenomegaly, Thrombocytop... |
OMIM:188400 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Corneal opacity |
OMIM:608670 |
| Wolf-Hirschhorn Syndrome |
|
Sclerocornea, Megalocornea, Iris coloboma |
ORPHA:280 |
| Van Den Ende-Gupta Syndrome |
|
Sclerocornea |
OMIM:600920 |
| Autosomal Dominant Cutis Laxa |
|
Developmental cataract, Corneal opacity |
ORPHA:90348 |
| Mucolipidosis Ii Alpha/Beta |
|
Opacification of the corneal stroma, Splenomegaly, Megalocornea |
OMIM:252500 |
| Xeroderma Pigmentosum |
|
Pterygium, Conjunctival telangiectasia, Keratitis, Cataract, Opacification of the corneal stroma |
ORPHA:910 |
| Cockayne Syndrome B |
|
Microcornea, Hypoplasia of the iris, Developmental cataract, Splenomegaly, Opacification of the c... |
OMIM:133540 |
| Neurocardiofaciodigital Syndrome |
|
Cataract, Sclerocornea |
OMIM:619869 |
| Bartsocas-Papas Syndrome 1 |
|
Popliteal pterygium, Axillary pterygium, Corneal ulceration, Pterygium, Opacification of the corn... |
OMIM:263650 |
| Fraser Syndrome 1 |
|
Corneal opacity |
OMIM:219000 |
| Hutchinson-Gilford Progeria Syndrome |
|
Corneal opacity, Corneal ulceration |
ORPHA:740 |
| Hereditary Acrokeratotic Poikiloderma |
|
Opacification of the corneal stroma, Keratoconjunctivitis |
ORPHA:2907 |
| Wiedemann-Rautenstrauch Syndrome |
|
Cataract, Corneal opacity |
ORPHA:3455 |
| Cockayne Syndrome A |
|
Cataract, Opacification of the corneal stroma, Splenomegaly |
OMIM:216400 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Opacification of the corneal stroma |
ORPHA:79280 |
| Roberts-Sc Phocomelia Syndrome |
|
Cataract, Opacification of the corneal stroma, Corneal opacity, Accessory spleen |
OMIM:268300 |
| Yunis-Varon Syndrome |
|
Cataract, Sclerocornea |
ORPHA:3472 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Opacification of the corneal stroma, Buphthalmos, Megalocornea |
OMIM:253280 |
| Fryns Syndrome |
|
Opacification of the corneal stroma, Polysplenia |
OMIM:229850 |
| Microphthalmia, Syndromic 6 |
|
Microcornea, Sclerocornea |
OMIM:607932 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Recurrent corneal erosions, Opacification of the corneal stroma, Corneal neovascularization, Kera... |
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 |
