Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
Major Depressive Disorder |
|
Depression |
OMIM:608516 |
Major Affective Disorder 1 |
|
Mania, Depression |
OMIM:125480 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Cataract 44 |
|
Developmental cataract |
OMIM:616509 |
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome |
|
Ectopia lentis |
ORPHA:2084 |
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder, Depression |
OMIM:613003 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
Cataract 7 |
|
Developmental cataract |
OMIM:115660 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Juvenile cataract |
OMIM:212500 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Obsessive-Compulsive Disorder |
|
Collectionism, Compulsive behaviors, Skin-picking, Depression |
OMIM:164230 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
Uncombable Hair Syndrome 2 |
|
Juvenile cataract |
OMIM:617251 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Foveal Hypoplasia 1 |
|
Presenile cataracts |
OMIM:136520 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract |
OMIM:274205 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract |
ORPHA:2253 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
X-Linked Retinoschisis |
|
Cataract |
ORPHA:792 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract |
OMIM:619813 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Corneal dystrophy, Developmental cataract |
OMIM:271320 |
Cortical Dysplasia, Complex, With Other Brain Malformations 4 |
|
Cataract |
OMIM:615412 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Dysequilibrium Syndrome |
|
Cataract |
ORPHA:1766 |
Optic Atrophy 3, Autosomal Dominant |
|
Cataract |
OMIM:165300 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
Bardet-Biedl Syndrome 18 |
|
Cataract |
OMIM:615995 |
Myopia 17, Autosomal Dominant |
|
Presenile cataracts |
OMIM:608367 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior, Hyperglycinuria, Hyperprolinemia, Prolinuria, Hydroxyprolinur... |
OMIM:239500 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Spastic Paraparesis-Deafness Syndrome |
|
Cataract |
ORPHA:2815 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Hypomyelination-Congenital Cataract Syndrome |
|
Developmental cataract |
ORPHA:85163 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Myopia 28, Autosomal Recessive |
|
Cataract |
OMIM:619781 |
Aniridia 2 |
|
Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Retinitis Pigmentosa 40 |
|
Cataract |
OMIM:613801 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Progressive cataract, Developmental cataract |
OMIM:246000 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
Hyperferritinemia With Or Without Cataract |
|
Nuclear cataract, Pulverulent cataract |
OMIM:600886 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Cataract |
ORPHA:2278 |
Cataract 3, Multiple Types |
|
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract |
OMIM:273680 |
Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Cataract |
ORPHA:401830 |
Cataract 17, Multiple Types |
|
Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract |
OMIM:611544 |
Aniridia 3 |
|
Aniridia, Cataract |
OMIM:617142 |
Hyperlysinemia, Type I |
|
Hyperlysinemia, Hyperactivity, Hyperlysinuria |
OMIM:238700 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Leukoencephalopathy With Vanishing White Matter 2 |
|
Cataract |
OMIM:620312 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Cataract |
OMIM:609115 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
Cataract 48 |
|
Cataract |
OMIM:618415 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
Isolated Aniridia |
|
Aniridia, Cataract, Peters anomaly |
ORPHA:250923 |
Congenital Varicella Syndrome |
|
Cataract |
ORPHA:291 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma |
OMIM:120433 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
|
Cataract |
OMIM:300261 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria, Hyperglycinemia |
OMIM:605899 |
Cataract 18 |
|
Nuclear cataract |
OMIM:610019 |
Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
Cataract 41 |
|
Nuclear cataract |
OMIM:116400 |
Cataract 2, Multiple Types |
|
Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c... |
OMIM:604307 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder, Neutral hyperaminoaciduria |
OMIM:234500 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Blepharoptosis, Myopia, And Ectopia Lentis |
|
Ectopia lentis |
OMIM:110150 |
Histidinemia |
|
Histidinuria, Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Cataract |
ORPHA:85288 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Cataract, Corneal dystrophy |
ORPHA:1369 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Cataract |
ORPHA:2310 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... |
OMIM:610202 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract |
OMIM:183800 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Lens subluxation |
OMIM:614292 |
Kahrizi Syndrome |
|
Cataract, Iris coloboma |
OMIM:612713 |
Retinitis Pigmentosa 9 |
|
Cataract |
OMIM:180104 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract |
OMIM:610156 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hepat... |
OMIM:617872 |
Cataract 39, Multiple Types |
|
Lamellar cataract, Anterior polar cataract, Developmental cataract |
OMIM:615188 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Cataract |
OMIM:614876 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcornea, Cataract |
ORPHA:2528 |
Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
Cataract 43 |
|
Posterior subcapsular cataract |
OMIM:616279 |
Coach Syndrome 2 |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce... |
OMIM:619111 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Cornea Guttata With Anterior Polar Cataracts |
|
Anterior polar cataract |
OMIM:121390 |
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Cataract |
ORPHA:1373 |
Vitreoretinal Degeneration, Snowflake Type |
|
Cataract, Corneal guttata |
OMIM:193230 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cataract |
ORPHA:2489 |
Leber Congenital Amaurosis 16 |
|
Cataract |
OMIM:614186 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Xeroderma Pigmentosum, Complementation Group G |
|
Cataract |
OMIM:278780 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
X-Linked Immunoneurologic Disorder |
|
Cataract |
ORPHA:2571 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract |
OMIM:116300 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Cataract 24 |
|
Anterior polar cataract |
OMIM:601202 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Wagner Vitreoretinopathy |
|
Cataract |
OMIM:143200 |
Galactose Epimerase Deficiency |
|
Cataract |
ORPHA:79238 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
Cardiomyopathy, Dilated, 1Ii |
|
Cataract |
OMIM:615184 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Cataract |
ORPHA:1875 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Peroxisome Biogenesis Disorder 11B |
|
Cataract |
OMIM:614885 |
Cataract 6, Multiple Types |
|
Posterior polar cataract, Developmental cataract |
OMIM:116600 |
Galactose Mutarotase Deficiency |
|
Cataract |
ORPHA:570422 |
Morm Syndrome |
|
Cataract |
ORPHA:75858 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Aggressive b... |
OMIM:612736 |
Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
Usher Syndrome Type 3 |
|
Cataract, Astigmatism, Iris hypopigmentation |
ORPHA:231183 |
Retinitis Pigmentosa 84 |
|
Cataract |
OMIM:618220 |
Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma |
ORPHA:1473 |
Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
Cataract 40 |
|
Nuclear cataract, Sutural cataract |
OMIM:302200 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Cataract |
OMIM:618392 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Aplasia/Hypoplasia of the lens, Cataract |
ORPHA:1381 |
Stickler Syndrome, Type V |
|
Cataract |
OMIM:614284 |
Supernumerary Nostril |
|
Microcornea, Developmental cataract |
ORPHA:141096 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hyperactivity, Hypertriglyceridemia |
OMIM:615924 |
Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
Retinitis Pigmentosa 4 |
|
Cataract |
OMIM:613731 |
Intestinal Dysmotility Syndrome |
|
Cataract |
OMIM:620045 |
Martsolf Syndrome 2 |
|
Cataract, Developmental cataract |
OMIM:619420 |
Achromatopsia 3 |
|
Cataract |
OMIM:262300 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea |
OMIM:251750 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Cataract |
OMIM:615352 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Cataract |
OMIM:619338 |
Dermatitis, Atopic |
|
Keratoconus, Cataract, Conjunctivitis |
OMIM:603165 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia, Elevated circulating creatinine concentration |
OMIM:619468 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Cataract |
OMIM:204100 |
Isolated Ectopia Lentis |
|
Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
3-Methylglutaconic Aciduria Type 4 |
|
Cataract, Iris hypopigmentation |
ORPHA:67048 |
Cataract 16, Multiple Types |
|
Posterior polar cataract, Lenticonus, Developmental cataract |
OMIM:613763 |
Cone-Rod Dystrophy 16 |
|
Cataract |
OMIM:614500 |
Interstitial Nephritis, Karyomegalic |
|
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Increased blood ure... |
OMIM:614817 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... |
OMIM:604229 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Cataract |
ORPHA:1069 |
Phenylketonuria |
|
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Hyperphenylalaninemia, Attent... |
OMIM:261600 |
Morning Glory Disc Anomaly |
|
Cataract |
ORPHA:35737 |
Coloboma, Ocular, Autosomal Recessive |
|
Iris coloboma, Cataract, Lens subluxation |
OMIM:216820 |
Preeclampsia |
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Elevated hepatic transaminase, Elevated circulating creatinine concentration, Abnormality of the ... |
ORPHA:275555 |
Leber Congenital Amaurosis |
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Keratoconus, Cataract |
ORPHA:65 |
Genetic Hyperferritinemia Without Iron Overload |
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Cataract |
ORPHA:254704 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... |
ORPHA:3077 |
Weill-Marchesani Syndrome 4 |
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Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... |
OMIM:613195 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
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Cataract |
OMIM:616108 |
Microphthalmia, Isolated 5 |
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Cataract |
OMIM:611040 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
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Cataract |
ORPHA:1366 |
Stiff Skin Syndrome |
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Cataract |
OMIM:184900 |
Leber Congenital Amaurosis 8 |
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Keratoconus, Cataract |
OMIM:613835 |
Usher Syndrome Type 1 |
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Cataract, Iris hypopigmentation |
ORPHA:231169 |
Weill-Marchesani Syndrome |
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Cataract, Ectopia lentis |
ORPHA:3449 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
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Cataract |
ORPHA:1345 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
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Cataract |
ORPHA:2410 |
Woolly Hair |
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Abnormal pupil morphology, Cataract |
ORPHA:170 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
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Cataract |
OMIM:132450 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
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Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Argininemia |
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Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Hyperammonemia, Cholestasis, Diami... |
OMIM:207800 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
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Cataract |
OMIM:601794 |
Cahmr Syndrome |
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Lamellar cataract |
OMIM:211770 |
Cataract 23, Multiple Types |
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Lamellar cataract |
OMIM:610425 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
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Cataract |
ORPHA:523 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
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Decreased serum creatinine |
ORPHA:289601 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
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Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Jaundice, Elevated circulatin... |
OMIM:613095 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
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Cataract |
ORPHA:363741 |
Citrullinemia Type Ii |
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Elevated hepatic transaminase, Restlessness, Hyperactivity, Decreased HDL cholesterol concentrati... |
ORPHA:247585 |
Wagr Syndrome |
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Aplasia/Hypoplasia of the iris, Cataract |
ORPHA:893 |
Female Restricted Epilepsy With Intellectual Disability |
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Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
Leukodystrophy, Hypomyelinating, 24 |
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Cataract |
OMIM:619851 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
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Buphthalmos, Cataract, Iris coloboma, Corneal scarring |
OMIM:212550 |
Monilethrix |
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Cataract |
ORPHA:573 |
Joubert Syndrome 9 |
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Cataract, Astigmatism |
OMIM:612285 |
8p23.1 deletion syndrome |
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Hyperactivity |
DECIPHER:39 |
Peroxisome Biogenesis Disorder 10B |
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Cataract |
OMIM:617370 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
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Cataract, Band keratopathy |
OMIM:604278 |
Retinitis Pigmentosa 2 |
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Cataract |
OMIM:312600 |
Cystinosis, Adult Nonnephropathic |
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Elevated circulating creatinine concentration |
OMIM:219750 |
Thrombotic Thrombocytopenic Purpura |
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Decreased serum creatinine |
ORPHA:54057 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
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Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:617056 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
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Hyperactivity, Transient hyperphenylalaninemia, Aggressive behavior |
OMIM:612716 |
Norrie Disease |
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Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
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Cataract |
OMIM:302950 |
Premature Aging Syndrome, Okamoto Type |
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Cataract |
OMIM:601811 |
Gyrate Atrophy Of Choroid And Retina |
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Cataract, Subcapsular cataract |
ORPHA:414 |
Renal Tubular Acidosis, Distal, 1 |
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Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Hypoparathyroidism, Familial Isolated, 1 |
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Cataract |
OMIM:146200 |
Congenital Disorder Of Glycosylation, Type Ih |
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Hepatomegaly, Elevated circulating creatinine concentration, Cholestasis, Hypoalbuminemia, Decrea... |
OMIM:608104 |
Sickle Cell Anemia |
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Pigment gallstones, Abnormality of the spleen, Elevated circulating creatinine concentration, Cho... |
ORPHA:232 |
Ifap Syndrome 2 |
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Keratitis, Keratoconjunctivitis sicca, Cataract |
OMIM:619016 |
Idiopathic Non-Lupus Full-House Nephropathy |
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Elevated circulating creatinine concentration |
ORPHA:567544 |
Fanconi Renotubular Syndrome 3 |
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Aminoaciduria, Elevated circulating creatinine concentration |
OMIM:615605 |
Chromosome 16Q12 Duplication Syndrome |
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Anisocoria, Cataract |
OMIM:619649 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
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Corneal erosion, Cataract |
OMIM:614878 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
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Elevated hepatic transaminase, Elevated circulating creatinine concentration, Elevated circulatin... |
OMIM:620138 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
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Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Cataract 49 |
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Posterior cortical cataract |
OMIM:619593 |
Nance-Horan Syndrome |
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Microcornea, Cataract |
ORPHA:627 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
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Subcapsular cataract, Cataract |
OMIM:612674 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration |
OMIM:616733 |
Alport Syndrome 2, Autosomal Recessive |
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Corneal erosion, Cataract, Anterior lenticonus |
OMIM:203780 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
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Hyperuricemia, Elevated circulating creatinine concentration, Self-mutilation |
ORPHA:79233 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:608836 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... |
OMIM:221900 |
Familial Isolated Hypoparathyroidism |
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Cataract |
ORPHA:2238 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
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Keratitis, Cataract, Conjunctivitis |
OMIM:612843 |
Hereditary Mucoepithelial Dysplasia |
|
Cataract, Corneal dystrophy |
ORPHA:1839 |
Relapsing Fever |
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Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Jaundice, E... |
ORPHA:91547 |
Ectodermal Dysplasia-Blindness Syndrome |
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Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca |
ORPHA:1806 |
Vogt-Koyanagi-Harada Disease |
|
Cataract |
ORPHA:3437 |
Adenine Phosphoribosyltransferase Deficiency |
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Elevated circulating creatinine concentration |
OMIM:614723 |
Enhanced S-Cone Syndrome |
|
Cataract |
OMIM:268100 |
Fuchs Heterochromic Iridocyclitis |
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Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... |
ORPHA:263479 |
Aniridia 1 |
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Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
Microphthalmia With Brain And Digit Anomalies |
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Microcornea, Cataract, Iris coloboma, Sclerocornea |
ORPHA:139471 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
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Hypomagnesemia, Hyperactivity, Hypokalemia, Self-biting |
OMIM:618314 |
Osteopetrosis, Autosomal Recessive 9 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
Oligoarticular Juvenile Idiopathic Arthritis |
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Cataract, Anterior chamber synechiae, Band keratopathy |
ORPHA:85410 |
Exudative Vitreoretinopathy 6 |
|
Nuclear cataract, Cataract, Cortical cataract |
OMIM:616468 |
C3 Glomerulopathy |
|
Elevated circulating creatinine concentration |
ORPHA:329918 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
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Hepatomegaly, Elevated circulating creatinine concentration |
OMIM:614376 |
Hypouricemia, Renal, 1 |
|
Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia |
OMIM:618885 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Prolonged neonatal jaundice, Elevated circulating creatinine concentration, Jaundice, Increased b... |
OMIM:274150 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Autoimmune Polyendocrinopathy Type 1 |
|
Cataract, Opacification of the corneal stroma |
ORPHA:3453 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
Senior-Loken Syndrome 1 |
|
Polydipsia, Elevated circulating creatinine concentration |
OMIM:266900 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... |
OMIM:612109 |
Idiopathic Panuveitis |
|
Conjunctival hyperemia, Cataract, Posterior synechiae of the anterior chamber |
ORPHA:280921 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... |
OMIM:601552 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Corneal neovascularization |
OMIM:278730 |
Intermediate Uveitis |
|
Posterior synechiae of the anterior chamber, Cataract, Band keratopathy |
ORPHA:279914 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal fear-induced behavior, Agitation, Restlessness, Depression |
ORPHA:100924 |
Microphthalmia, Syndromic 5 |
|
Microcornea, Cataract |
OMIM:610125 |
Autosomal Dominant Polycystic Kidney Disease |
|
Pancreatic cysts, Polycystic liver disease, Elevated circulating creatinine concentration, Hepati... |
ORPHA:730 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Elevated circulating creatinine concentration, Abnormality of the hepatic vasculature, Nodular re... |
ORPHA:247691 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Aminoaciduria, Hypokal... |
ORPHA:411634 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration |
ORPHA:79126 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior |
ORPHA:309246 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microcornea, Ectopia pupillae, Cataract, Sclerocornea |
OMIM:615877 |
Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration |
ORPHA:90060 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Peritonitis, Elevated circulating creatinine ... |
ORPHA:36234 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Cataract |
OMIM:118650 |
Aapoaiv Amyloidosis |
|
Hyperlipidemia, Elevated circulating creatinine concentration |
ORPHA:439232 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Peritonitis, Elevated circulating creatinine concentration, Hypokalemia, Unconjugat... |
ORPHA:90038 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulean cataract, Anterior... |
ORPHA:67036 |
Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Biliary tract abnor... |
OMIM:137920 |
Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:49041 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
ORPHA:230 |
Oligomeganephronia |
|
Polydipsia, Elevated circulating creatinine concentration |
ORPHA:2260 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:174000 |
Multiple Myeloma |
|
Splenomegaly, Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
Marburg Hemorrhagic Fever |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hyperamylasemi... |
ORPHA:99826 |
Papillorenal Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:120330 |
Hemorrhagic Fever-Renal Syndrome |
|
Elevated hepatic transaminase, Hyperkalemia, Elevated circulating creatinine concentration, Hyper... |
ORPHA:340 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619534 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Retroperitoneal fibrosis, Abnormal mesente... |
ORPHA:449395 |
Yellow Fever |
|
Acute pancreatitis, Elevated circulating aspartate aminotransferase concentration, Elevated circu... |
ORPHA:99829 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration |
ORPHA:97292 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:617478 |
Pauci-Immune Glomerulonephritis |
|
Elevated circulating creatinine concentration, Pancreatitis |
ORPHA:93126 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Aminoaciduria, Elevated circulating C-reactive protein concentration, Elevated circulating creati... |
ORPHA:91500 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353281 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353277 |