Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Progressive cerebellar ataxia, Corneal opacity, Corneal dystrophy, Ataxia |
ORPHA:3177 |
Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Ataxia, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract, Spastic gait, Limb ataxia, Gait ataxia |
OMIM:617133 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Spastic ataxia, Corneal dystrophy, Developmental cataract |
OMIM:271320 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Hyperlysinemia, Type I |
|
Hyperactivity, Ectopia lentis |
OMIM:238700 |
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 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions |
OMIM:121820 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions |
OMIM:217800 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity |
ORPHA:2432 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor... |
OMIM:619927 |
Cataract 47 |
|
Microcornea, Cataract, Glycosuria |
OMIM:612018 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Cataract |
ORPHA:85288 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:608470 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma |
ORPHA:231736 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Morm Syndrome |
|
Hyperactivity, Cataract, Aggressive behavior |
ORPHA:75858 |
Recessive X-Linked Ichthyosis |
|
Attention deficit hyperactivity disorder, Opacification of the corneal stroma |
ORPHA:461 |
Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Tortuosity of conjunctival vessels, Aggressive behavior |
OMIM:248510 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
Gómez-López-Hernández Syndrome |
|
Corneal opacity, Ataxia |
ORPHA:1532 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Attention deficit hyperactivity disorder... |
ORPHA:35878 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma |
ORPHA:1473 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Hartnup Disorder |
|
Episodic ataxia, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Gait disturbance, Decreased corneal thickne... |
OMIM:614170 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Hyperprolinemia, Type I |
|
Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior |
OMIM:239500 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... |
OMIM:604229 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Phenylketonuria |
|
Hyperactivity, Cataract, Aggressive behavior, Blue irides, Compulsive behaviors, Attention defici... |
OMIM:261600 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors |
OMIM:301107 |
Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
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 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Ataxia, Hypoglycemia |
OMIM:240800 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
Norrie Disease |
|
Cataract, Corneal opacity, Aggressive behavior, Leukocoria, Hypoplasia of the iris, Buphthalmos, ... |
OMIM:310600 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Blue irides, Recurrent hand flapping, Self-mut... |
OMIM:615516 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea |
ORPHA:83461 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Atte... |
OMIM:620141 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior |
OMIM:605899 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Erythrokeratodermia Variabilis |
|
Diabetes mellitus, Cataract, Corneal opacity |
ORPHA:317 |
Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... |
ORPHA:98973 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Abnormal repetitive mannerisms, Broad-based gait, Aggressive behavior |
OMIM:619470 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity |
ORPHA:2370 |
Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity, Attention deficit hyperactivity disorder |
ORPHA:281090 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... |
OMIM:613270 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hypoglycemia, Attention deficit hyperactivity disorder |
OMIM:620211 |
Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal degeneration, Corneal dystrophy, Corneal guttata |
OMIM:610158 |
Mucolipidosis Type Iii |
|
Corneal opacity |
ORPHA:577 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Broad-based gait, Ataxia, Inappropriate laughter, Polyphagia, Iris hypopigmentation |
ORPHA:411515 |
Harel-Yoon Syndrome |
|
Inability to walk, Corneal opacity, Ataxia, Developmental cataract |
OMIM:617183 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Developmental cataract |
OMIM:618815 |
Mucolipidosis Iv |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:252650 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Athetosis, Self-injurious behavior |
ORPHA:382 |
3-Methylglutaconic Aciduria Type 4 |
|
Cataract, Hypoglycemia, Iris hypopigmentation |
ORPHA:67048 |
Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Dysphagia |
ORPHA:411777 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Type I diabetes mellitus |
ORPHA:290 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Hyperactivity, Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corn... |
OMIM:256800 |
Brachyolmia Type 1, Toledo Type |
|
Gait disturbance, Opacification of the corneal stroma |
OMIM:271630 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy, Corneal guttata |
OMIM:615523 |
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 |
Wagro Syndrome |
|
Cataract, Corneal opacity, Aggressive behavior, Agitation, Compulsive behaviors, Aniridia, Polyph... |
OMIM:612469 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... |
OMIM:618718 |
Sialidosis Type 2 |
|
Corneal opacity, Ataxia |
ORPHA:87876 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
Short Syndrome |
|
Posterior embryotoxon, Diabetes mellitus, Corneal opacity, Abnormal pupil morphology, Insulin res... |
ORPHA:3163 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior |
OMIM:612716 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization |
ORPHA:163934 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
Cystinosis |
|
Corneal opacity, Gait disturbance, Type I diabetes mellitus, Polydipsia, Abnormal repetitive mann... |
ORPHA:213 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Inability to walk, Corneal opacity |
OMIM:166300 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Microphthalmia, Syndromic 16 |
|
Sclerocornea |
OMIM:611038 |
Alpha-Mannosidosis |
|
Cataract, Corneal opacity, Type II diabetes mellitus |
ORPHA:61 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Neurotrophic Keratopathy |
|
Diabetes mellitus, Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosio... |
ORPHA:137596 |
Juvenile Sialidosis Type 2 |
|
Cataract, Ataxia, Corneal opacity, Dysmetria, Dysphagia, Loss of ambulation |
ORPHA:93399 |
Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... |
ORPHA:98957 |
Osteoporosis-Pseudoglioma Syndrome |
|
Loss of ambulation, Corneal opacity, Waddling gait |
ORPHA:2788 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cataract, Corneal opacity, Spastic gait, Gait ataxia |
ORPHA:496790 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Corneal opacity |
ORPHA:2741 |
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 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Increased proinsulin:in... |
OMIM:106210 |
Mucolipidosis Type Iv |
|
Gait disturbance, Corneal opacity, Ataxia |
ORPHA:578 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Corneal opacity |
OMIM:613153 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior |
OMIM:620023 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Scheie Syndrome |
|
Corneal opacity |
OMIM:607016 |
Sialidosis Type 1 |
|
Gait disturbance, Cataract, Corneal opacity, Ataxia |
ORPHA:812 |
Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
Gm1-Gangliosidosis, Type Iii |
|
Ataxia, Opacification of the corneal stroma |
OMIM:230650 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnormal repeti... |
OMIM:617600 |
Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract |
OMIM:221800 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, S... |
ORPHA:3077 |
Mietens Syndrome |
|
Microcornea, Cataract, Corneal opacity, Sclerocornea |
ORPHA:2557 |
Fish-Eye Disease |
|
Corneal opacity |
ORPHA:79292 |
Sjogren-Larsson Syndrome |
|
Astigmatism, Opacification of the corneal epithelium |
OMIM:270200 |
Hurler-Scheie Syndrome |
|
Corneal opacity |
ORPHA:93476 |
Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Optic disc coloboma, Remnants of the hyaloid vascular system, Chorioretinal ... |
OMIM:120200 |
Alpha-Mannosidosis, Adult Form |
|
Cataract, Corneal opacity, Ataxia |
ORPHA:309288 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Corneal opacity, Ataxia, Inability to walk, Athetosis, Abnormal cornea morphology |
ORPHA:357058 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity |
ORPHA:1867 |
Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... |
ORPHA:96125 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity |
OMIM:618961 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Keratitis, Conjunctivitis, Corneal opacity |
OMIM:602562 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca |
ORPHA:1806 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Developmental glaucoma, Corneal opacity |
ORPHA:1064 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microcornea, Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea |
OMIM:615145 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
Congenital Sialidosis Type 2 |
|
Cataract, Ataxia, Corneal opacity, Dysmetria, Developmental cataract |
ORPHA:93400 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... |
OMIM:262190 |
Gomez-Lopez-Hernandez Syndrome |
|
Self-injurious behavior, Hyperactivity, Ataxia, Opacification of the corneal stroma |
OMIM:601853 |
Tyrosinemia Type 2 |
|
Corneal opacity, Ataxia |
ORPHA:28378 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Microphthalmia With Brain And Digit Anomalies |
|
Microcornea, Cataract, Iris coloboma, Sclerocornea |
ORPHA:139471 |
Rodrigues Blindness |
|
Microcornea, Sclerocornea |
OMIM:268320 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Gait imbalan... |
ORPHA:98794 |
Olmsted Syndrome 1 |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:614594 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system |
OMIM:257910 |
Wilson Disease |
|
Kayser-Fleischer ring, Hypersexuality, Difficulty walking, Aggressive behavior |
ORPHA:905 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
Oculomaxillofacial Dysostosis |
|
Corneal opacity |
ORPHA:1794 |
Lcat Deficiency |
|
Corneal opacity |
ORPHA:650 |
Familial Dysautonomia |
|
Ataxia, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Gait disturbance, Heterochro... |
ORPHA:1764 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Corneal opacity |
OMIM:602400 |
Gm1 Gangliosidosis |
|
Ataxia, Corneal opacity, Unsteady gait, Gait disturbance, Dysphagia, Oral aversion |
ORPHA:354 |
Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... |
OMIM:612109 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Diabetes mellitus, Aggressive behavior, Self-injurious behavior, Abnormal temper t... |
ORPHA:449291 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Cataract, Corneal opacity, Ataxia, Ocular albinism, Athetosis, Iris hypopigmentation |
ORPHA:2719 |
Bartsocas-Papas Syndrome |
|
Popliteal pterygium, Corneal opacity |
ORPHA:1234 |
Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
Zellweger Syndrome |
|
Brushfield spots, Posterior embryotoxon, Corneal opacity, Cataract |
ORPHA:912 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re... |
OMIM:610042 |
8Q21.11 Microdeletion Syndrome |
|
Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation |
ORPHA:284160 |
Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
Walker-Warburg Syndrome |
|
Microcornea, Cataract, Corneal opacity, Iris coloboma |
ORPHA:899 |
Dyggve-Melchior-Clausen Disease |
|
Inability to walk, Hyperactivity, Corneal opacity, Difficulty walking |
ORPHA:239 |
Lowry-Maclean Syndrome |
|
Developmental glaucoma, Megalocornea, Corneal opacity |
ORPHA:2409 |
Mucopolysaccharidosis Type 3 |
|
Hyperactivity, Cataract, Corneal opacity, Ataxia, Aggressive behavior, Hypersexuality, Dysphagia,... |
ORPHA:581 |
Al-Gazali Syndrome |
|
Corneal opacity, Sclerocornea |
OMIM:609465 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Conjunctival hyperemia, Cataract, Corneal opacity |
ORPHA:2399 |
Cutis Laxa, Autosomal Dominant 3 |
|
Corneal opacity, Developmental cataract |
OMIM:616603 |
Multiple Sulfatase Deficiency |
|
Cataract, Corneal opacity |
ORPHA:585 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma |
OMIM:601356 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Astigmatism, Corneal opacity |
OMIM:301056 |
Scheie Syndrome |
|
Corneal opacity |
ORPHA:93474 |
Oculocerebrocutaneous Syndrome |
|
Corneal opacity, Iris coloboma |
ORPHA:1647 |
Multiple Sulfatase Deficiency |
|
Corneal opacity, Ataxia |
OMIM:272200 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Diabetes... |
ORPHA:649 |
Mucopolysaccharidosis, Type Ivb |
|
Ataxia, Corneal opacity, Opacification of the corneal stroma |
OMIM:253010 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
3Q29 Microduplication Syndrome |
|
Aniridia, Cataract, Iris coloboma, Sclerocornea |
ORPHA:251038 |
Cystinosis, Adult Nonnephropathic |
|
Corneal crystals |
OMIM:219750 |
Incontinentia Pigmenti |
|
Cataract, Corneal opacity, Keratitis, Gait disturbance, Attention deficit hyperactivity disorder |
ORPHA:464 |
Mucolipidosis Iii Gamma |
|
Opacification of the corneal stroma |
OMIM:252605 |
Mucopolysaccharidosis Type 4 |
|
Corneal opacity, Gait disturbance |
ORPHA:582 |
Autoimmune Polyendocrinopathy Type 1 |
|
Cataract, Opacification of the corneal stroma |
ORPHA:3453 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Broad-based gait, Corneal opacity, Corneal dystrophy, Aggressive behavior, Buphthalmos, Keratocon... |
ORPHA:495875 |
Hurler-Scheie Syndrome |
|
Corneal opacity |
OMIM:607015 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microcornea, Ectopia pupillae, Cataract, Sclerocornea |
OMIM:615877 |
Sanjad-Sakati Syndrome |
|
Astigmatism, Corneal opacity |
ORPHA:2323 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Corneal opacity, Astigmatism, Gait disturbance, Attention deficit hyperactivity disorder, Abnorma... |
ORPHA:464311 |
Pelvis-Shoulder Dysplasia |
|
Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Congenital Disorder Of Deglycosylation 1 |
|
Restlessness, Corneal opacity, Oral-pharyngeal dysphagia, Dysmetria, Athetosis, Impaired orophary... |
OMIM:615273 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Axenfeld anomaly, Opacification of the corneal stroma, Peters anomaly, Ocular anterior segment dy... |
OMIM:612582 |
Stromme Syndrome |
|
Cataract, Sclerocornea, Microcornea, Peters anomaly, Iris coloboma |
OMIM:243605 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Opacification of the corneal stroma |
OMIM:215250 |
Fucosidosis |
|
Corneal opacity |
ORPHA:349 |
Farber Disease |
|
Abnormal conjunctiva morphology, Corneal opacity, Opacification of the corneal stroma |
ORPHA:333 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hyperactivity, Corneal opacity, Astigmatism, Gait disturbance, Abnormal repetitive mannerisms |
ORPHA:464306 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae |
OMIM:601499 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
De Barsy Syndrome |
|
Athetosis, Cataract, Corneal opacity, Progressive cerebellar ataxia |
ORPHA:2962 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Corneal opacity |
OMIM:163200 |
Galactosialidosis |
|
Conjunctival telangiectasia, Opacification of the corneal stroma |
OMIM:256540 |
Schimke Immuno-Osseous Dysplasia |
|
Corneal opacity |
ORPHA:1830 |
Gorlin-Chaudhry-Moss Syndrome |
|
Astigmatism, Sclerocornea |
ORPHA:2095 |
Mucopolysaccharidosis Type 7 |
|
Corneal opacity |
ORPHA:584 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ectopia pupillae, Corneal opacity, Lens subluxation |
ORPHA:85167 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Iris coloboma, Sclerocornea |
ORPHA:77298 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Corneal opacity, Buphthalmos, Peters anomaly, Megalocornea |
OMIM:236670 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Peripheral opacification of the cornea, Corneal opacity, Gait disturbance |
OMIM:259600 |
Histiocytoid Cardiomyopathy |
|
Megalocornea, Corneal opacity, Congenital aphakia, Hypoglycemia |
ORPHA:137675 |
Hurler Syndrome |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:607014 |
Moebius Syndrome |
|
Corneal opacity, Dysphagia |
ORPHA:570 |
Mucopolysaccharidosis Type 2 |
|
Hyperactivity, Corneal opacity, Impulsivity, Aggressive behavior, Abnormal temper tantrums, Abnor... |
ORPHA:580 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Marginal corneal dystrophy, Corneal crystals |
OMIM:210370 |
Oculoectodermal Syndrome |
|
Hyperactivity, Microcornea, Astigmatism, Opacification of the corneal stroma, Limbal dermoid |
OMIM:600268 |
Focal Dermal Hypoplasia |
|
Hypoplasia of the iris, Corneal opacity, Iris coloboma, Ectopia lentis |
ORPHA:2092 |
Tangier Disease |
|
Opacification of the corneal stroma |
OMIM:205400 |
Apolipoprotein A-I Deficiency |
|
Opacification of the corneal stroma |
ORPHA:425 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Limbal dermoid, Sclerocornea |
OMIM:613001 |
Tbck-Related Intellectual Disability Syndrome |
|
Inability to walk, Corneal opacity |
ORPHA:488632 |
Alpha-Mannosidosis, Infantile Form |
|
Astigmatism, Corneal opacity, Ataxia, Cataract |
ORPHA:309282 |
Pseudo-Torch Syndrome 1 |
|
Cataract, Opacification of the corneal stroma |
OMIM:251290 |
Fabry Disease |
|
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Anorexia |
ORPHA:324 |
Oculocerebrorenal Syndrome Of Lowe |
|
Cataract, Corneal opacity, Abnormal pupil morphology, Buphthalmos, Self-injurious behavior, Lenti... |
ORPHA:534 |
Mucopolysaccharidosis, Type Vii |
|
Corneal opacity |
OMIM:253220 |
Premature Aging Syndrome, Penttinen Type |
|
Corneal stromal edema, Corneal opacity |
OMIM:601812 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Brushfield spots, Cataract, Opacification of the corneal stroma |
OMIM:214110 |
Mosaic Trisomy 9 |
|
Corneal opacity |
ORPHA:99776 |
Mosaic Trisomy 8 |
|
Corneal opacity |
ORPHA:96061 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp... |
OMIM:614643 |
3Mc Syndrome 3 |
|
Corneal opacity |
OMIM:248340 |
Neurofibromatosis Type 1 |
|
Cataract, Corneal opacity, Ataxia, Attention deficit hyperactivity disorder, Lisch nodules, Heter... |
ORPHA:636 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Cataract, Sclerocornea |
OMIM:614230 |
Mucolipidosis Iii Alpha/Beta |
|
Opacification of the corneal stroma, Hyperopic astigmatism |
OMIM:252600 |
Fryns Syndrome |
|
Corneal opacity |
ORPHA:2059 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Cataract, Brushfield spots, Unsteady gait, Opacification of the corneal stroma, Dysphagia, Loss o... |
OMIM:214100 |
Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Corneal neovascularization, Opacification of the corneal stroma, Keratoconjunctivitis |
OMIM:158310 |
Mucopolysaccharidosis Type 1 |
|
Corneal opacity |
ORPHA:579 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Corneal crystals |
OMIM:219900 |
Schimke Immunoosseous Dysplasia |
|
Waddling gait, Astigmatism, Opacification of the corneal stroma |
OMIM:242900 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Posterior subcapsular cataract, Megalocornea, Corneal opacity, Iris coloboma |
ORPHA:536471 |
Hurler Syndrome |
|
Corneal opacity |
ORPHA:93473 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Corneal opacity |
ORPHA:364577 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Opacification of the corneal stroma |
OMIM:313400 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of the iris, Ectopia ... |
OMIM:175780 |
Infantile Nephropathic Cystinosis |
|
Glycosuria, Abnormal cornea morphology, Polydipsia, Corneal crystals |
ORPHA:411629 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Iris coloboma, Sclerocornea, Peters anomaly |
OMIM:309801 |
Mosaic Variegated Aneuploidy Syndrome |
|
Cataract, Corneal opacity |
ORPHA:1052 |
Mucopolysaccharidosis, Type Iva |
|
Waddling gait, Opacification of the corneal stroma |
OMIM:253000 |
Carpenter Syndrome 1 |
|
Microcornea, Opacification of the corneal stroma |
OMIM:201000 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system |
ORPHA:2714 |
Kindler Epidermolysis Bullosa |
|
Conjunctivitis, Dysphagia, Corneal opacity |
ORPHA:2908 |
Phace Syndrome |
|
Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma |
ORPHA:42775 |
Williams Syndrome |
|
Flat cornea, Corneal opacity, Cataract, Ataxia, Blue irides, Dysmetria, Aplasia/Hypoplasia of the... |
ORPHA:904 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormal temper tantrums, Broad-based gait, Corneal opacity, Limb ataxia |
ORPHA:2072 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Sclerocornea |
OMIM:300952 |
Galloway-Mowat Syndrome 1 |
|
Hypoplasia of the iris, Cataract, Ataxia, Opacification of the corneal stroma |
OMIM:251300 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Corneal opacity |
ORPHA:79396 |
Mucopolysaccharidosis Type 6 |
|
Opacification of the corneal stroma |
ORPHA:583 |
Mucopolysaccharidosis, Type Vi |
|
Corneal opacity |
OMIM:253200 |
Encephalocraniocutaneous Lipomatosis |
|
Corneal opacity, Iris coloboma |
ORPHA:2396 |
Lathosterolosis |
|
Microcornea, Cataract, Opacification of the corneal stroma |
ORPHA:46059 |
Wilson Disease |
|
Kayser-Fleischer ring, Glycosuria, Dysphagia |
OMIM:277900 |
Tangier Disease |
|
Corneal opacity |
ORPHA:31150 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cataract, Corneal opacity |
OMIM:274000 |
Ablepharon Macrostomia Syndrome |
|
Corneal erosion, Corneal opacity |
ORPHA:920 |
Smith-Lemli-Opitz Syndrome |
|
Cataract, Sclerocornea, Self-injurious behavior, Attention deficit hyperactivity disorder, Iris c... |
ORPHA:818 |
Gaucher Disease |
|
Corneal opacity, Ataxia, Dysphagia |
ORPHA:355 |
Larsen Syndrome |
|
Corneal opacity |
OMIM:150250 |
Proboscis Lateralis |
|
Microcornea, Cataract, Corneal opacity, Iris coloboma |
ORPHA:141099 |
Osteogenesis Imperfecta |
|
Ataxia, Corneal opacity, Gait disturbance, Dysphagia, Loss of ambulation |
ORPHA:666 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Brushfield spots, Athetosis, Cataract, Opacification of the corneal stroma |
OMIM:614866 |
Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system |
OMIM:620185 |
Chime Syndrome |
|
Corneal opacity |
ORPHA:3474 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Posterior embryotoxon, Corneal opacity, Sclerocornea |
ORPHA:2556 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Cataract, Ataxia, Keratitis, Opacification of the corneal stroma, Pt... |
ORPHA:910 |
Microphthalmia, Syndromic 3 |
|
Cataract, Sclerocornea |
OMIM:206900 |
Pierson Syndrome |
|
Retinal detachment, Posterior lenticonus, Remnants of the hyaloid vascular system, Retinal hemorr... |
OMIM:609049 |
Meckel Syndrome |
|
Microcornea, Aplasia/Hypoplasia of the iris, Cataract, Sclerocornea |
ORPHA:564 |
Limb Body Wall Complex |
|
Lens subluxation, Corneal opacity, Iris coloboma |
ORPHA:2369 |
Wolf-Hirschhorn Syndrome |
|
Megalocornea, Ataxia, Iris coloboma, Sclerocornea |
ORPHA:280 |
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 |
Hutchinson-Gilford Progeria Syndrome |
|
Insulin resistance, Corneal ulceration, Corneal opacity, Shuffling gait |
ORPHA:740 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Corneal opacity, Keratitis, Corneal erosion, Astigmatism, Conjunctivitis |
ORPHA:2273 |
Gaucher Disease, Type Iiic |
|
Opacification of the corneal stroma |
OMIM:231005 |
Mosaic Trisomy 1 |
|
Opacification of the corneal stroma |
ORPHA:1692 |
Autosomal Dominant Cutis Laxa |
|
Corneal opacity, Developmental cataract |
ORPHA:90348 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Corneal opacity |
OMIM:608670 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Corneal opacity |
ORPHA:217085 |
Van Den Ende-Gupta Syndrome |
|
Sclerocornea |
OMIM:600920 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Corneal opacity |
ORPHA:217093 |
Wiedemann-Rautenstrauch Syndrome |
|
Cataract, Corneal opacity, Ataxia, Type II diabetes mellitus, Truncal ataxia |
ORPHA:3455 |
Cockayne Syndrome B |
|
Ataxia, Developmental cataract, Microcornea, Hypoplasia of the iris, Opacification of the corneal... |
OMIM:133540 |
Mucolipidosis Ii Alpha/Beta |
|
Megalocornea, Tip-toe gait, Opacification of the corneal stroma |
OMIM:252500 |
Neurocardiofaciodigital Syndrome |
|
Cataract, Sclerocornea |
OMIM:619869 |
Cockayne Syndrome A |
|
Gait disturbance, Cataract, Ataxia, Opacification of the corneal stroma |
OMIM:216400 |
Fraser Syndrome 1 |
|
Corneal opacity |
OMIM:219000 |
Bartsocas-Papas Syndrome 1 |
|
Popliteal pterygium, Opacification of the corneal stroma, Pterygium, Corneal ulceration, Axillary... |
OMIM:263650 |
Lathosterolosis |
|
Cataract, Opacification of the corneal stroma |
OMIM:607330 |
Hereditary Acrokeratotic Poikiloderma |
|
Opacification of the corneal stroma, Keratoconjunctivitis |
ORPHA:2907 |
Holoprosencephaly 2 |
|
Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma |
OMIM:157170 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Opacification of the corneal stroma |
ORPHA:79280 |
Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system |
ORPHA:637 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Buphthalmos, Megalocornea, Cataract, Opacification of the corneal stroma |
OMIM:253280 |
Digeorge Syndrome |
|
Attention deficit hyperactivity disorder, Posterior embryotoxon, Sclerocornea |
OMIM:188400 |
Microphthalmia, Syndromic 2 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:300166 |
Yunis-Varon Syndrome |
|
Cataract, Sclerocornea |
ORPHA:3472 |
Roberts-Sc Phocomelia Syndrome |
|
Cataract, Corneal opacity, Opacification of the corneal stroma |
OMIM:268300 |
Neuroocular Syndrome |
|
Lens coloboma, Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:619539 |
Fryns Syndrome |
|
Opacification of the corneal stroma |
OMIM:229850 |
Microphthalmia, Syndromic 6 |
|
Microcornea, Sclerocornea |
OMIM:607932 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Opacification of the corneal stroma |
OMIM:615287 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Keratitis, Opacification of the corneal stroma, Corneal neovascularization, Recurrent corneal ero... |
OMIM:308205 |
Yunis-Varon Syndrome |
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Cataract, Sclerocornea |
OMIM:216340 |